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Search the entire catalog of SABiosciences products by gene name, key word, or RefSeq number. To learn more about all of these products, visit our Send an Email to Technical Support.

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  2. Use Gene Symbols, key words, or RefSeq Accession Numbers for your gene of interest to find the catalog numbers for the corresponding products. To learn how to get RefSeq Accession Numbers, click here.
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Species:
Gene Name, symbol, description:      RefSeq Number:   
All Product Lines
RT≤ Profilerô PCR Array Pathway-Focused qRT-PCR Based Expression Profiling
RT≤ qPCR Primer Assay Gene-Specific Primers for qRT-PCR, Genome-Wide Availability
Cignalô Pathway Reporter Assays Cell-Based Assays for Rapidly Analyzing Pathway Signaling Activity
miScript miRNA PCR Array miScript miRNA PCR Array
Multi-Analyte Profiler ELISArray Kits Analyze 12 Cytokines or Chemokines Simultaneously Using ELISA
Single Analyte ELISArray Kits High Performance ELISA with the Best Possible Antibodies
EpiTect Methyl II PCR Arrays Pathway-Focused PCR Based DNA Methylation Analysis
EpiTect Methyl II PCR Primer Assay PCR Assays for DNA Methylation Analysis, Genome-Wide Availability
SureSilencingô shRNA Gene-Specific Plasmid-Based RNA Interference, Genome-Wide Availability
EpiTect ChIP qPCR Arrays Pathway-Focused qPCR Based Histone Modifications Analysis
        
Search Result: 5609 gene(s) found matching 'T'
Gene Symbol: T (Human)Other Aliases: TFT
Refseq IDs: NM_003181, NM_001270484
Description: T, brachyury homolog (mouse)
The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells.
Products:
 RT≤ Profilerô PCR Array4 products

Gene Symbol: AARS (Human)Other Aliases: CMT2N
Refseq IDs: NM_001605, XM_005255813, ENST00000261772, ENST00000564359, ENST00000565361, ENST00000566969, ENST00000567490, ENST00000569790, ENST00000569825
Description: Alanyl-tRNA synthetase
The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: AASDHPPT (Human)Other Aliases: AASD-PPT, LYS2, LYS5
Refseq IDs: NM_015423, ENST00000278618, ENST00000524411, ENST00000525660, ENST00000533423, ENST00000534152
Description: Aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia.
Products:
 RT≤ Profilerô PCR Array1 products

Gene Symbol: AATF (Human)Other Aliases: CHE-1, CHE1, DED
Refseq IDs: NM_012138, ENST00000225402, ENST00000586981, ENST00000587618, ENST00000588486, ENST00000589579, ENST00000590321, ENST00000592219, ENST00000592751, ENST00000593084
Description: Apoptosis antagonizing transcription factor
The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis.
Products:
 RT≤ Profilerô PCR Array1 products

Gene Symbol: AATK (Human)Other Aliases: AATYK, AATYK1, LMR1, LMTK1, p35BP
Refseq IDs: NM_001080395, NM_004920, XM_005257847, XM_005257848, XM_005257849, XM_005257850, XM_005257851, XM_005257852, XM_005257853, XM_005257854, XM_005257855, XM_005257856, XM_005257857, ENST00000326724, ENST00000374792, ENST00000417379, ENST00000570932, ENST00000572339, ENST00000572798, ENST00000573441, ENST00000573469, ENST00000575363, ENST00000576053
Description: Apoptosis-associated tyrosine kinase
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABCB10 (Human)Other Aliases: EST20237, M-ABC2, MTABC2
Refseq IDs: NM_012089, ENST00000344517, ENST00000486755, ENST00000498158
Description: ATP-binding cassette, sub-family B (MDR/TAP), member 10
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABCB5 (Human)Other Aliases: ABCB5alpha, ABCB5beta, EST422562
Refseq IDs: NM_178559, NM_001163941, NM_001163942, NM_001163993, XM_005249737, ENST00000404938, ENST00000258738, ENST00000477094, ENST00000443026, ENST00000441315, ENST00000406935
Description: ATP-binding cassette, sub-family B (MDR/TAP), member 5
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ABCB7 (Human)Other Aliases: ABC7, ASAT, Atm1p, EST140535
Refseq IDs: NM_004299, NM_001271696, NM_001271697, NM_001271698, NM_001271699, ENST00000253577, ENST00000339447, ENST00000373394, ENST00000469368, ENST00000490858, ENST00000526404, ENST00000529949, ENST00000534524, ENST00000534570
Description: ATP-binding cassette, sub-family B (MDR/TAP), member 7
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABCB8 (Human)Other Aliases: EST328128, M-ABC1, MABC1
Refseq IDs: NM_007188, NM_001282291, NM_001282292, NM_001282293, XM_005249935, XM_005249936, XM_005249937, XM_005249938, XM_005249939, XM_005249940, ENST00000297504, ENST00000356058, ENST00000358849, ENST00000461373, ENST00000462605, ENST00000466514, ENST00000466956, ENST00000469410, ENST00000470645, ENST00000471796, ENST00000472698, ENST00000477092, ENST00000477719, ENST00000482309, ENST00000482899, ENST00000488370, ENST00000488551, ENST00000488826, ENST00000489192, ENST00000491920, ENST00000493338, ENST00000498578, ENST00000542328
Description: ATP-binding cassette, sub-family B (MDR/TAP), member 8
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, it may involve the compartmentalization and transport of heme, as well as peptides, from the mitochondria to the nucleus and cytosol. This protein may also play a role in the transport of phospholipids into mitochondrial membranes.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABCB9 (Human)Other Aliases: EST122234, TAPL
Refseq IDs: NM_019625, NM_019624, NM_203444, NM_001243013, NM_001243014, XM_005253558, XM_005253559, ENST00000280560, ENST00000344275, ENST00000346530, ENST00000392439, ENST00000426173, ENST00000442028, ENST00000442833, ENST00000536976, ENST00000537276, ENST00000538895, ENST00000540285, ENST00000540971, ENST00000541424, ENST00000541983, ENST00000542448, ENST00000542678, ENST00000543935, ENST00000545373, ENST00000546077, ENST00000546289
Description: ATP-binding cassette, sub-family B (MDR/TAP), member 9
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, this protein may play a role in lysosomes. Alternative splicing of this gene results in three known products which are likely to have different substrate specifications.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABI3BP (Human)Other Aliases: NESHBP, TARSH
Refseq IDs: NM_015429, XM_005247281, XM_005247282, XM_005247283, XM_005247284, XM_005247285, XM_005247286, XM_005247287, XM_005247288, XM_005247289, XM_005247290, XM_005247291, XM_005247292, XM_005247293, XM_005247294, XM_005247295, XM_005247296, XM_005247297, XM_005247298, XM_005247299, XM_005247300, XM_005247301, XM_005247302, XM_005247303, XM_005247304, XM_005247305, XM_005247306, XM_005247307, XM_005247308, XM_005247309, XM_005247310, XM_005247311, XM_005247312, XM_005247313, XM_005247314, XM_005247315, XM_005247316, XM_005247317, XM_005247318, XM_005247319, ENST00000284322, ENST00000383691, ENST00000459682, ENST00000466947, ENST00000469764, ENST00000470336, ENST00000471714, ENST00000471901, ENST00000475896, ENST00000478235, ENST00000482765, ENST00000483129, ENST00000486770, ENST00000487012, ENST00000487249, ENST00000495063, ENST00000495591, ENST00000497021, ENST00000497395, ENST00000527258, ENST00000527943, ENST00000528305, ENST00000528490, ENST00000530236, ENST00000530539, ENST00000532144, ENST00000533795, ENST00000533855, ENST00000534256, ENST00000534413
Description: ABI family, member 3 (NESH) binding protein
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABL1 (Human)Other Aliases: ABL, JTK7, abl, bcr, c-ABL, c-ABL1, p150, v-abl
Refseq IDs: NM_005157, NM_007313, XM_005272177
Description: C-abl oncogene 1, non-receptor tyrosine kinase
The ABL1 protooncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of c-Abl protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR (MIM:151410) and ABL1 genes present in many cases of chronic myelogeneous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11.
Products:
 RT≤ Profilerô PCR Array13 products

Gene Symbol: ABO (Human)Other Aliases: A3GALNT, A3GALT1, GTB, NAGAT
Refseq IDs: NM_020469, XM_005276848, XM_005276849, XM_005276850, XM_005276851, XM_005276852, ENST00000453660, ENST00000538324
Description: ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABT1 (Human)Other Aliases: hABT1
Refseq IDs: NM_013375
Description: Activator of basal transcription 1
Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ABT1P1 (Human)Other Aliases: ABT1P1
Refseq IDs: ENST00000511060
Description: Activator of basal transcription 1 pseudogene 1 [Source:HGNC Symbol;Acc:39557]
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACAA1 (Human)Other Aliases: ACAA, PTHIO, THIO
Refseq IDs: NM_001607, NM_001130410, NR_024024, ENST00000301810, ENST00000333167, ENST00000411549, ENST00000418880, ENST00000421218, ENST00000423611, ENST00000440176, ENST00000444607, ENST00000447223, ENST00000450296, ENST00000451419, ENST00000452171, ENST00000460424, ENST00000465181, ENST00000469559, ENST00000469600, ENST00000480865, ENST00000484284, ENST00000489559, ENST00000544624
Description: Acetyl-CoA acyltransferase 1
Acetyl-Coenzyme A acyltransferase (ACAA1) is an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACAP2-IT1 (Human)Other Aliases: ACAP2-IT1
Refseq IDs: ENST00000419899
Description: ACAP2 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41426]
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACAT1 (Human)Other Aliases: ACAT, MAT, T2, THIL
Refseq IDs: NM_000019, ENST00000265838, ENST00000299355, ENST00000524833, ENST00000526119, ENST00000527942, ENST00000528370, ENST00000531813, ENST00000531853, ENST00000532792, ENST00000533597, ENST00000533610, ENST00000534773
Description: Acetyl-CoA acetyltransferase 1
This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. This gene spans approximately 27 kb and contains 12 exons interrupted by 11 introns. Defects in this gene are associated with the alpha-methylacetoaceticaciduria disorder, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone.
Products:
 RT≤ Profilerô PCR Array4 products

Gene Symbol: ACD (Human)Other Aliases: PIP1, PTOP, TINT1, TPP1
Refseq IDs: NM_022914, NM_001082486, NM_001082487, XM_005256115, ENST00000219251, ENST00000393919, ENST00000602320, ENST00000602382, ENST00000602423, ENST00000602519, ENST00000602622, ENST00000602656, ENST00000602780, ENST00000602821, ENST00000602850, ENST00000602860, ENST00000602945
Description: Adrenocortical dysplasia homolog (mouse)
Products:
 RT≤ Profilerô PCR Array1 products

Gene Symbol: ACOT1 (Human)Other Aliases: ACH2, CTE-1, LACH2
Refseq IDs: NM_001037161, XM_005267997
Description: Acyl-CoA thioesterase 1
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACOT11 (Human)Other Aliases: BFIT, STARD14, THEA, THEM1
Refseq IDs: NM_147161, NM_015547, XM_005270730, XM_005270731, XM_005270732, XM_005270733, XM_005270734, ENST00000343744, ENST00000371316, ENST00000479837, ENST00000481208, ENST00000498228
Description: Acyl-CoA thioesterase 11
This gene encodes a protein with acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Expression of a similar murine protein in brown adipose tissue is induced by cold exposure and repressed by warmth. Expression of the mouse protein has been associated with obesity, with higher expression found in obesity-resistant mice compared with obesity-prone mice. Alternative splicing results in two transcript variants encoding different isoforms.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACOT12 (Human)Other Aliases: CACH-1, Cach, STARD15, THEAL
Refseq IDs: NM_130767, XM_005248438, ENST00000307624, ENST00000506440, ENST00000508234, ENST00000513751
Description: Acyl-CoA thioesterase 12
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACOT13 (Human)Other Aliases: PNAS-27, THEM2
Refseq IDs: NM_018473, NM_001160094, ENST00000230048, ENST00000476436, ENST00000537591
Description: Acyl-CoA thioesterase 13
The protein encoded by this gene is a member of the thioesterase superfamily.
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACOT2 (Human)Other Aliases: CTE-IA, CTE1A, MTE1, PTE2, PTE2A, ZAP128
Refseq IDs: NM_006821, NR_046028, ENST00000238651, ENST00000538782, ENST00000557857
Description: Acyl-CoA thioesterase 2
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACOT4 (Human)Other Aliases: PTE-Ib, PTE1B, PTE2B
Refseq IDs: NM_152331
Description: Acyl-CoA thioesterase 4
Products:
 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACOT6 (Human)Other Aliases: C14orf42, c14_5530
Refseq IDs: NM_001037162
Description: Acyl-CoA thioesterase 6
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACOT7 (Human)Other Aliases: ACH1, ACT, BACH, CTE-II, LACH, LACH1, RP1-120G22.10, hBACH
Refseq IDs: NM_181866, NM_181865, NM_181864, NM_007274, XM_005263427, XR_244784, ENST00000361521, ENST00000377842, ENST00000377845, ENST00000377855, ENST00000377860, ENST00000418124, ENST00000473466, ENST00000481175, ENST00000541130, ENST00000545482, ENST00000608083
Description: Acyl-CoA thioesterase 7
This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized.
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACOT8 (Human)Other Aliases: HNAACTE, PTE-1, PTE-2, PTE1, PTE2, hACTE-III, hTE
Refseq IDs: NM_005469, XM_005260239, XM_005260240, XM_005260241, XM_005260242, XR_244130, ENST00000217455, ENST00000426915, ENST00000457981, ENST00000461272, ENST00000481938, ENST00000483141, ENST00000484783, ENST00000484975, ENST00000486165, ENST00000487205, ENST00000488679, ENST00000493118
Description: Acyl-CoA thioesterase 8
The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. Multiple transcript variants encoding several different isoforms have been found for this gene.
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACOT9 (Human)Other Aliases: ACATE2, MT-ACT48, MTACT48
Refseq IDs: NM_001033583, NM_001037171, XM_005274470, XM_005274471, XM_005274472, ENST00000336430, ENST00000379295, ENST00000379297, ENST00000379303, ENST00000449612, ENST00000473710, ENST00000492081, ENST00000494361
Description: Acyl-CoA thioesterase 9
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: ACP5 (Human)Other Aliases: SPENCDI, TRAP
Refseq IDs: NM_001611, NM_001111034, NM_001111035, NM_001111036, XM_005259938, XM_005259939, ENST00000218758, ENST00000412435, ENST00000433365, ENST00000588079, ENST00000588524, ENST00000588625, ENST00000589792, ENST00000590420, ENST00000590832, ENST00000591319, ENST00000592659, ENST00000592828
Description: Acid phosphatase 5, tartrate resistant
Acid phosphatase 5 is an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. ACP5 is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate.
Products:
 RT≤ Profilerô PCR Array1 products

Gene Symbol: ACPT (Human)Other Aliases:
Refseq IDs: NM_033068
Description: Acid phosphatase, testicular
Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. There are four alternatively spliced transcript variants that have been described for this gene. This gene has been found to have multiple polyadenylation sites.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACRBP (Human)Other Aliases: CT23, OY-TES-1, SP32
Refseq IDs: NM_032489, XM_005253801, XM_005253802, XR_242991, ENST00000229243, ENST00000414226, ENST00000535884, ENST00000536350, ENST00000538524, ENST00000540513, ENST00000542357, ENST00000544352, ENST00000546114
Description: Acrosin binding protein
The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon.
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Gene Symbol: ACTL7B (Human)Other Aliases: Tact1
Refseq IDs: NM_006686
Description: Actin-like 7B
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: ACVR1 (Human)Other Aliases: ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI
Refseq IDs: NM_001105, NM_001111067, XM_005246939, XM_005246940, ENST00000263640, ENST00000409283, ENST00000410057, ENST00000412025, ENST00000413751, ENST00000424669, ENST00000434821, ENST00000440523, ENST00000487456, ENST00000539637
Description: Activin A receptor, type I
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors.
Products:
 RT≤ Profilerô PCR Array5 products

Gene Symbol: ACVR1B (Human)Other Aliases: ACTRIB, ACVRLK4, ALK4, SKR2
Refseq IDs: NM_004302, NM_020327, NM_020328, ENST00000257963, ENST00000415850, ENST00000426655, ENST00000536420, ENST00000541224, ENST00000542485, ENST00000563121
Description: Activin A receptor, type IB
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with a cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling, and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type IB receptor, composed of 11 exons. Alternative splicing and alternative polyadenylation result in 3 fully described transcript variants. The mRNA expression of variants 1, 2, and 3 is confirmed, and a potential fourth variant contains an alternative exon 8 and lacks exons 9 through 11, but its mRNA expression has not been confirmed.
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 RT≤ Profilerô PCR Array4 products

Gene Symbol: ACVR2A (Human)Other Aliases: ACTRII, ACVR2
Refseq IDs: NM_001616, NM_001278579, NM_001278580, XM_005263843, ENST00000241416, ENST00000404590, ENST00000462659, ENST00000465329, ENST00000487959, ENST00000495775, ENST00000535787
Description: Activin A receptor, type IIA
This gene encodes activin A type II receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases.
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Gene Symbol: ACVR2B (Human)Other Aliases: ACTRIIB, ActR-IIB, HTX4
Refseq IDs: NM_001106, XM_005265583, ENST00000352511, ENST00000461232, ENST00000465020
Description: Activin A receptor, type IIB
Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor.
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Gene Symbol: ADAD1 (Human)Other Aliases: Tenr
Refseq IDs: NM_139243, NM_001159285, NM_001159295, XM_005262741, XM_005262742, XM_005262743, XM_005262744, XM_005262745, ENST00000296513, ENST00000388724, ENST00000388725, ENST00000439307, ENST00000446706, ENST00000464160, ENST00000492454
Description: Adenosine deaminase domain containing 1 (testis-specific)
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Gene Symbol: ADAD2 (Human)Other Aliases: TENRL
Refseq IDs: NM_139174, NM_001145400, XM_005255814, ENST00000268624, ENST00000315906, ENST00000563849, ENST00000564169, ENST00000564430, ENST00000566526, ENST00000567413, ENST00000567685, ENST00000569221
Description: Adenosine deaminase domain containing 2
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Gene Symbol: ADAM18 (Human)Other Aliases: ADAM27, tMDCIII
Refseq IDs: NM_014237, NM_001190956, XM_005273667, XR_247133, ENST00000265707, ENST00000379866, ENST00000520001, ENST00000520087, ENST00000520559, ENST00000520772, ENST00000523755, ENST00000524117, ENST00000541111
Description: ADAM metallopeptidase domain 18
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a sperm surface protein.
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Gene Symbol: ADAMTS1 (Human)Other Aliases: C3-C5, METH1
Refseq IDs: NM_006988, ENST00000284984, ENST00000451462, ENST00000464589, ENST00000492656, ENST00000517452, ENST00000517777
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 1
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function.
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Gene Symbol: ADAMTS10 (Human)Other Aliases: ADAM-TS10, ADAMTS-10, WMS, WMS1
Refseq IDs: NM_030957, NM_001282352, XM_005272498, XM_005272499, XM_005272500, XM_005272501, XM_005277796, XM_005277797, XM_005277798, XM_005277799, ENST00000270328, ENST00000593534, ENST00000593826, ENST00000593913, ENST00000595838, ENST00000596236, ENST00000596466, ENST00000596709, ENST00000596851, ENST00000596911, ENST00000597188, ENST00000601163, ENST00000601872, ENST00000603221
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 10
This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome.
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Gene Symbol: ADAMTS12 (Human)Other Aliases: PRO4389
Refseq IDs: NM_030955, XM_005248381, ENST00000352040, ENST00000504582, ENST00000504830, ENST00000506952, ENST00000509762, ENST00000515401
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 12
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion.
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Gene Symbol: ADAMTS13 (Human)Other Aliases: ADAM-TS13, ADAMTS-13, C9orf8, VWFCP, vWF-CP
Refseq IDs: NM_139027, NM_139026, NM_139025, NR_024514, ENST00000355699, ENST00000356589, ENST00000371910, ENST00000371911, ENST00000371916, ENST00000371929, ENST00000474918, ENST00000485925, ENST00000495234, ENST00000536611
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 13
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene is the von Willebrand Factor (vWF)-cleaving protease, which is responsible for cleaving at the site of Tyr842-Met843 of the vWF molecule. A deficiency of this enzyme is associated with thrombotic thrombocytopenic purpura. Alternative splicing of this gene generates at least four transcript variants encoding different isoforms.
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Gene Symbol: ADAMTS14 (Human)Other Aliases:
Refseq IDs: NM_080722, NM_139155
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 14
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. This gene is highly similar to two family members, ADAMTS2 and ADAMTS3, in its sequence and gene structure, and the encoded protein shares the aminoprocollagen peptidase activity with the protein products encoded by ADAMTS2 and ADAMTS3. Various transcript variants of this gene have been identified. They result from the use of two different promoters and transcription initiation sites as well as alternative splicing sites. The full length nature of some transcripts has not been defined.
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Gene Symbol: ADAMTS15 (Human)Other Aliases:
Refseq IDs: NM_139055, XM_005271419
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 15
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the proteins encoded by ADAMTS1 and ADAMTS8.
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Gene Symbol: ADAMTS16 (Human)Other Aliases: ADAMTS16s
Refseq IDs: NM_139056, ENST00000274181, ENST00000433402, ENST00000511368, ENST00000513709
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 16
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS18, another family member.
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Gene Symbol: ADAMTS17 (Human)Other Aliases:
Refseq IDs: NM_139057, XM_005254872, XM_005254873, ENST00000268070, ENST00000378898, ENST00000557896, ENST00000558930, ENST00000558960, ENST00000559976, ENST00000560486, ENST00000561355, ENST00000568565
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 17
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined.
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Gene Symbol: ADAMTS18 (Human)Other Aliases: ADAMTS21, KNO2, MMCAT
Refseq IDs: NM_199355, ENST00000282849, ENST00000449265, ENST00000562332, ENST00000562345, ENST00000564369, ENST00000567121, ENST00000567914, ENST00000568393, ENST00000569309
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 18
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by gene ADAMTS16, another family member. Alternative splicing results in two transcript variants encoding distinct isoforms.
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Gene Symbol: ADAMTS19 (Human)Other Aliases:
Refseq IDs: NM_133638, ENST00000274487, ENST00000502709, ENST00000505791, ENST00000509467
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 19
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member.
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Gene Symbol: ADAMTS2 (Human)Other Aliases: ADAM-TS2, ADAMTS-2, ADAMTS-3, NPI, PC I-NP, PCI-NP, PCINP, PCPNI, PNPI
Refseq IDs: NM_014244, NM_021599, ENST00000251582, ENST00000274609, ENST00000518335, ENST00000522937, ENST00000523450
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 2
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in two transcript variants. The short transcript encodes a protein which has no significant procollagen N-peptidase activity.
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Gene Symbol: ADAMTS20 (Human)Other Aliases: ADAM-TS20, ADAMTS-20, GON-1
Refseq IDs: NM_025003
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 20
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Gene Symbol: ADAMTS3 (Human)Other Aliases: ADAMTS-4
Refseq IDs: NM_014243, ENST00000286657, ENST00000505193, ENST00000511274
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 3
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene is the major procollagen II N-propeptidase. A deficiency of this protein may be responsible for dermatosparaxis, a genetic defect of connective tissues.
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Gene Symbol: ADAMTS4 (Human)Other Aliases: ADAMTS-2, ADAMTS-4, ADMP-1
Refseq IDs: NM_005099, ENST00000367995, ENST00000367996, ENST00000478394
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 4
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. It is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The cleavage of aggrecan and brevican suggests key roles of this enzyme in arthritic disease and in the central nervous system, potentially, in the progression of glioma.
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Gene Symbol: ADAMTS5 (Human)Other Aliases: ADAM-TS 11, ADAM-TS 5, ADAM-TS5, ADAMTS-11, ADAMTS-5, ADAMTS11, ADMP-2
Refseq IDs: NM_007038
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 5
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs and functions as aggrecanase to cleave aggrecan, a major proteoglycan of cartilage.
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Gene Symbol: ADAMTS6 (Human)Other Aliases: ADAM-TS 6, ADAM-TS6, ADAMTS-6
Refseq IDs: NM_197941, ENST00000314351, ENST00000381052, ENST00000381055, ENST00000417396, ENST00000464680, ENST00000470597, ENST00000502886, ENST00000504282, ENST00000536360
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 6
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains.
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Gene Symbol: ADAMTS7 (Human)Other Aliases: ADAM-TS 7, ADAM-TS7, ADAMTS-7
Refseq IDs: NM_014272, XM_005254137, XM_005254138, ENST00000388820, ENST00000565793, ENST00000566303, ENST00000568712, ENST00000569934
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 7
The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two C-terminal TS motifs.
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Gene Symbol: ADAMTS8 (Human)Other Aliases: ADAM-TS8, METH2
Refseq IDs: NM_007037, XM_005271397, ENST00000257359, ENST00000531752
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 8
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms.
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Gene Symbol: ADAMTS9 (Human)Other Aliases:
Refseq IDs: NM_182920, XM_005265329, XR_245151, ENST00000295903, ENST00000459780, ENST00000467119, ENST00000467257, ENST00000475557, ENST00000477180, ENST00000481060, ENST00000482490, ENST00000494004, ENST00000498707
Description: ADAM metallopeptidase with thrombospondin type 1 motif, 9
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors.
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Gene Symbol: ADAMTSL4 (Human)Other Aliases: ADAMTSL-4, ECTOL2, TSRC1
Refseq IDs: NM_025008, NM_019032, NM_001288607, NM_001288608, XM_005245269, XR_241087, ENST00000271643, ENST00000369038, ENST00000369039, ENST00000369041, ENST00000483335, ENST00000489159
Description: ADAMTS-like 4
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
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Gene Symbol: ADAMTSL5 (Human)Other Aliases: THSD6
Refseq IDs: NM_213604, XM_005259549, XM_005259550, ENST00000330475, ENST00000395467, ENST00000413997, ENST00000585700, ENST00000585804, ENST00000586272, ENST00000587828, ENST00000589839, ENST00000590090, ENST00000590440, ENST00000590562, ENST00000590682, ENST00000591077
Description: ADAMTS-like 5
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Gene Symbol: ADAT1 (Human)Other Aliases: HADAT1
Refseq IDs: NM_012091, NR_036460, XM_005255875, XM_005255876, XM_005255877, XM_005255878, XM_005255879, ENST00000307921, ENST00000562374, ENST00000564657, ENST00000565109, ENST00000566445, ENST00000566450, ENST00000567281, ENST00000568001, ENST00000568478, ENST00000568510
Description: Adenosine deaminase, tRNA-specific 1
This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA.
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Gene Symbol: ADAT2 (Human)Other Aliases: DEADC1, TAD2, dJ20N2, dJ20N2.1
Refseq IDs: NM_182503, NM_001286259, XM_005266820, XM_005266821, ENST00000237283, ENST00000367593, ENST00000606514
Description: Adenosine deaminase, tRNA-specific 2
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Gene Symbol: ADAT3 (Human)Other Aliases: FWP005, MRT36, MST121, MSTP121, S863-5, TAD3
Refseq IDs: XM_005259484, NM_138422
Description: Adenosine deaminase, tRNA-specific 3
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Gene Symbol: ADTRP (Human)Other Aliases: AIG1L, C6orf105, dJ413H6.1
Refseq IDs: NM_032744, NM_001143948, XM_005249453, XM_005249454, XM_005249455, ENST00000229583, ENST00000379413, ENST00000379415, ENST00000414691, ENST00000485323, ENST00000503285, ENST00000505099, ENST00000506810, ENST00000512139, ENST00000513651, ENST00000514824
Description: Androgen-dependent TFPI-regulating protein
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Gene Symbol: AFF2-IT1 (Human)Other Aliases: AFF2-IT1
Refseq IDs: ENST00000435346
Description: AFF2 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41334]
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Gene Symbol: AGAP1-IT1 (Human)Other Aliases: AGAP1-IT1
Refseq IDs: ENST00000440498, XR_108380
Description: AGAP1 intronic transcript 1 (non-protein coding)
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Gene Symbol: AGBL4-IT1 (Human)Other Aliases: AGBL4-IT1
Refseq IDs: ENST00000457061
Description: AGBL4 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41482]
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Gene Symbol: AGBL5-IT1 (Human)Other Aliases: AGBL5-IT1
Refseq IDs: ENST00000411862
Description: AGBL5 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41484]
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Gene Symbol: AGMO (Human)Other Aliases: TMEM195
Refseq IDs: NM_001004320, ENST00000342526, ENST00000407277, ENST00000418075, ENST00000498264
Description: Alkylglycerol monooxygenase
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Gene Symbol: AGPAT4-IT1 (Human)Other Aliases: AGPAT4-IT1
Refseq IDs: NR_024277
Description: AGPAT4 intronic transcript 1 (non-protein coding)
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Gene Symbol: AGPAT6 (Human)Other Aliases: 1-AGPAT 6, LPAAT-zeta, LPAATZ, TSARG7
Refseq IDs: NM_178819, XM_005273402, XM_005273403, ENST00000396987, ENST00000518628, ENST00000519853, ENST00000519921, ENST00000520223, ENST00000520258, ENST00000521121, ENST00000521184, ENST00000521349, ENST00000521806, ENST00000523906
Description: 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)
Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM]
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Gene Symbol: AGPAT9 (Human)Other Aliases: AGPAT 10, AGPAT8, GPAT3, LPAAT-theta, MAG1
Refseq IDs: NM_032717, NM_001256421, NM_001256422, XM_005263314, ENST00000264409, ENST00000395226, ENST00000506766, ENST00000509044, ENST00000509412, ENST00000513683, ENST00000514309
Description: 1-acylglycerol-3-phosphate O-acyltransferase 9
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Gene Symbol: AGTR1 (Human)Other Aliases: AG2S, AGTR1A, AGTR1B, AT1, AT1AR, AT1B, AT1BR, AT1R, AT2R1, AT2R1A, AT2R1B, HAT1R
Refseq IDs: NM_031850, NM_000685, NM_004835, NM_009585, NM_032049, ENST00000349243, ENST00000402260, ENST00000404754, ENST00000418473, ENST00000461609, ENST00000474935, ENST00000475166, ENST00000475347, ENST00000497524, ENST00000542281
Description: Angiotensin II receptor, type 1
Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. AGTR1 may play role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene AGTR1B exists; however, it is now believed that there is only one AGTR1 gene. The gene expresses at least four transcript variants; additional variants have been described but their full length nature has not been determined. Exon 5 contains the entire coding sequence and is present in all transcript variants.
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Gene Symbol: AGTR2 (Human)Other Aliases: AT2, ATGR2, MRX88
Refseq IDs: NM_000686, XM_005268342, XM_005278221
Description: Angiotensin II receptor, type 2
Angiotensin II is a potent pressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors termed AT1 and AT2. AGTR2 belongs to a family 1 of G-protein coupled receptors. It is an intergral membrane protein. It plays a role in the central nervous system and cardiovascular functions that are mediated by the renin-angiotensin system. This receptor mediates programmed cell death (apoptosis). In adults, it is highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. It is highly expressed in fetal kidney and intestine. The human AGTR2 gene is composed of three exons and spans at least 5 kb. Exons 1 and 2 encode for 5' untranslated mRNA sequence and exon 3 harbors the entire uninterrupted open reading frame.
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Gene Symbol: AGXT (Human)Other Aliases: AGT, AGT1, AGXT1, PH1, SPAT, SPT, TLH6
Refseq IDs: NM_000030, ENST00000307503, ENST00000470255, ENST00000472436, ENST00000476698
Description: Alanine-glyoxylate aminotransferase
The human AGXT protein product is normally localized in the peroxisomes of liver where it is involved in glyoxylate detoxification. Defects in the AGXT gene, some of which alter subcellular targetting, are the cause of Oxalosis I.
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Gene Symbol: AHCTF1 (Human)Other Aliases: ELYS, MST108, TMBS62
Refseq IDs: NM_015446, ENST00000326225, ENST00000366508, ENST00000391829, ENST00000470300, ENST00000477526, ENST00000478568, ENST00000483900, ENST00000498601
Description: AT hook containing transcription factor 1
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Gene Symbol: AHCTF1P1 (Human)Other Aliases: AHCTF1P1
Refseq IDs: ENST00000420969, ENST00000435109, NR_077058
Description: AT hook containing transcription factor 1 pseudogene 1
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Gene Symbol: AIMP2 (Human)Other Aliases: JTV-1, JTV1, P38
Refseq IDs: NM_006303, XM_005249847, XM_005249848, XM_005249849, XM_005249850
Description: Aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown.
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Gene Symbol: AKR1C6P (Human)Other Aliases: TAKR
Refseq IDs: NR_026743, ENST00000281339, ENST00000432950
Description: Aldo-keto reductase, truncated
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Gene Symbol: AKT1 (Human)Other Aliases: AKT, CWS6, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA
Refseq IDs: NM_005163, NM_001014431, NM_001014432, XM_005267401, XM_005267402, ENST00000349310, ENST00000402615, ENST00000407796, ENST00000544168, ENST00000553506, ENST00000553797, ENST00000554192, ENST00000554581, ENST00000554585, ENST00000554826, ENST00000554848, ENST00000555380, ENST00000555458, ENST00000555528, ENST00000555926, ENST00000556836, ENST00000557494, ENST00000557552
Description: V-akt murine thymoma viral oncogene homolog 1
The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Multiple alternatively spliced transcript variants have been found for this gene.
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Gene Symbol: AKT2 (Human)Other Aliases: HIHGHH, PKBB, PKBBETA, PRKBB, RAC-BETA
Refseq IDs: NM_001626, NM_001243027, NM_001243028, XM_005258645, XM_005258646, XM_005258647, XM_005258648, XM_005258649, XM_005258650, ENST00000311278, ENST00000358335, ENST00000391844, ENST00000391845, ENST00000392037, ENST00000392038, ENST00000416362, ENST00000416994, ENST00000423127, ENST00000424901, ENST00000427375, ENST00000441941, ENST00000452077, ENST00000456441, ENST00000476247, ENST00000476266, ENST00000480878, ENST00000483166, ENST00000486368, ENST00000486647, ENST00000487537, ENST00000489375, ENST00000491778, ENST00000492463, ENST00000496089, ENST00000497948, ENST00000498350, ENST00000537834, ENST00000578123, ENST00000578282, ENST00000578310, ENST00000578615, ENST00000578975, ENST00000579047, ENST00000579345, ENST00000580747, ENST00000580878, ENST00000581582, ENST00000583859, ENST00000584288, ENST00000596634, ENST00000601166
Description: V-akt murine thymoma viral oncogene homolog 2
AKT2 is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains. Furthermore, AKT2 was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression of AKT2 contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. AKT2 is a general protein kinase capable of phophorylating several known proteins.
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Gene Symbol: AKT3 (Human)Other Aliases: MPPH, PKB-GAMMA, PKBG, PRKBG, RAC-PK-gamma, RAC-gamma, STK-2
Refseq IDs: NM_005465, NM_181690, NM_001206729, XM_005272994, XM_005272995, XM_005272996, XM_005272997, ENST00000263826, ENST00000336199, ENST00000366539, ENST00000366540, ENST00000463991, ENST00000490018, ENST00000491219, ENST00000492957, ENST00000550388, ENST00000552631
Description: V-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)
The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described.
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Gene Symbol: AKT3-IT1 (Human)Other Aliases: AKT3-IT1
Refseq IDs: ENST00000417120
Description: AKT3 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41304]
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Gene Symbol: ALG9-IT1 (Human)Other Aliases: ALG9-IT1
Refseq IDs: ENST00000531305
Description: ALG9 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41409]
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Gene Symbol: ALK (Human)Other Aliases: CD246, NBLST3
Refseq IDs: NM_004304, ENST00000389048, ENST00000431873, ENST00000453137, ENST00000498037
Description: Anaplastic lymphoma receptor tyrosine kinase
The 2;5 chromosomal translocation is frequently associated with anaplastic large cell lymphomas (ALCLs). The translocation creates a fusion gene consisting of the ALK (anaplastic lymphoma kinase) gene and the nucleophosmin (NPM) gene: the 3' half of ALK, derived from chromosome 2, is fused to the 5' portion of NPM from chromosome 5. A recent study shows that the product of the NPM-ALK fusion gene is oncogenic. The deduced amino acid sequences reveal that ALK is a novel receptor protein-tyrosine kinase having a putative transmembrane domain and an extracellular domain. These sequences are absent in the product of the transforming NPM-ALK gene. ALK shows the greatest sequence similarity to LTK (leukocyte tyrosine kinase). ALK plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system.
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Gene Symbol: ALMS1-IT1 (Human)Other Aliases: ALMS1-IT1
Refseq IDs: ENST00000441587
Description: ALMS1 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41305]
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Gene Symbol: ALPL (Human)Other Aliases: AP-TNAP, APTNAP, HOPS, TNAP, TNSALP
Refseq IDs: NM_000478, NM_001127501, NM_001177520, XM_005245818, XM_005245819, XM_005245820, ENST00000374829, ENST00000374830, ENST00000374832, ENST00000374840, ENST00000425315, ENST00000468526, ENST00000539907, ENST00000540617
Description: Alkaline phosphatase, liver/bone/kidney
There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2 while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization, however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to a disorder known as hypophosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms.
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Gene Symbol: AMMECR1-IT1 (Human)Other Aliases: AMMECR1-IT1
Refseq IDs: ENST00000418848
Description: AMMECR1 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41306]
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Gene Symbol: ANKRD10-IT1 (Human)Other Aliases: ANKRD10-IT1
Refseq IDs: ENST00000426991
Description: ANKRD10 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:39891]
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Gene Symbol: ANKRD26 (Human)Other Aliases: THC2, bA145E8.1
Refseq IDs: NM_014915, NM_001256053, XM_005252409, XM_005252410, XM_005252411, XM_005252412, XM_005252413, XM_005252414, XM_005252415, ENST00000376070, ENST00000376087, ENST00000436985, ENST00000445828, ENST00000466890, ENST00000473304, ENST00000490015
Description: Ankyrin repeat domain 26
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Gene Symbol: ANKRD44-IT1 (Human)Other Aliases: ANKRD44-IT1
Refseq IDs: ENST00000428191, XR_241376
Description: ANKRD44 intronic transcript 1 (non-protein coding)
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Gene Symbol: ANKRD7 (Human)Other Aliases: TSA806
Refseq IDs: NM_019644, XM_005250499, XM_005250500, ENST00000265224, ENST00000357099, ENST00000417525, ENST00000433239, ENST00000477532, ENST00000486422, ENST00000490445
Description: Ankyrin repeat domain 7
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Gene Symbol: ANO10 (Human)Other Aliases: SCAR10, TMEM16K
Refseq IDs: NM_018075, NM_001204831, NM_001204832, NM_001204833, NM_001204834, XM_005265263, XM_005265264, XM_005265265, ENST00000292246, ENST00000350459, ENST00000396091, ENST00000413397, ENST00000414522, ENST00000427171, ENST00000428472, ENST00000428831, ENST00000436073, ENST00000439141, ENST00000444344, ENST00000448045, ENST00000451430, ENST00000456438, ENST00000466658, ENST00000486959, ENST00000495772
Description: Anoctamin 10
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Gene Symbol: ANO2 (Human)Other Aliases: C12orf3, TMEM16B
Refseq IDs: NM_020373, NM_001278596, NM_001278597, ENST00000327087, ENST00000356134, ENST00000536751, ENST00000538154, ENST00000540543, ENST00000541487, ENST00000541874, ENST00000542326, ENST00000544988, ENST00000545860, ENST00000546188
Description: Anoctamin 2
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Gene Symbol: ANO3 (Human)Other Aliases: C11orf25, DYT23, DYT24, TMEM16C
Refseq IDs: NM_031418, XM_005253063, XM_005253064, ENST00000256737, ENST00000525139, ENST00000529242, ENST00000531568, ENST00000531646, ENST00000537978
Description: Anoctamin 3
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Gene Symbol: ANO4 (Human)Other Aliases: TMEM16D
Refseq IDs: NM_178826, NM_001286615, NM_001286616, XM_005268648, XM_005268649, XM_005268650, ENST00000299222, ENST00000392977, ENST00000392979, ENST00000538618, ENST00000546991, ENST00000548940, ENST00000549155, ENST00000549234, ENST00000550015, ENST00000551148
Description: Anoctamin 4
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Gene Symbol: ANO6 (Human)Other Aliases: BDPLT7, SCTS, TMEM16F
Refseq IDs: NM_001025356, NM_001142678, NM_001142679, NM_001142680, NM_001204803, XM_005268706, XM_005268707, ENST00000320560, ENST00000423947, ENST00000425752, ENST00000426898, ENST00000435642, ENST00000441606, ENST00000550630, ENST00000551667
Description: Anoctamin 6
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Gene Symbol: ANO7 (Human)Other Aliases: D-TMPP, DTMPP, IPCA-5, IPCA5, NGEP, PCANAP5, PCANAP5L, TMEM16G
Refseq IDs: NM_001001666, NM_001001891, ENST00000274979, ENST00000402430, ENST00000402530, ENST00000451047, ENST00000459928, ENST00000471606, ENST00000475532, ENST00000481071, ENST00000487192
Description: Anoctamin 7
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Gene Symbol: ANO8 (Human)Other Aliases: KIAA1623, TMEM16H
Refseq IDs: NM_020959, ENST00000159087, ENST00000597643, ENST00000600711
Description: Anoctamin 8
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Gene Symbol: ANO9 (Human)Other Aliases: PIG5, TMEM16J, TP53I5
Refseq IDs: NM_001012302, XM_005252885, XM_005252886, XR_242796, XR_242797, XR_242798, XR_242799, XR_242800, ENST00000332826, ENST00000524802, ENST00000525804, ENST00000525857, ENST00000526142, ENST00000528927, ENST00000532094, ENST00000534161
Description: Anoctamin 9
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Gene Symbol: ANP32A-IT1 (Human)Other Aliases: ANP32A-IT1
Refseq IDs: NR_026808
Description: ANP32A intronic transcript 1 (non-protein coding)
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Gene Symbol: ANTXR1 (Human)Other Aliases: ATR, GAPO, TEM8
Refseq IDs: NM_018153, NM_032208, NM_053034, XM_005264595, ENST00000303714, ENST00000409349, ENST00000409829, ENST00000463335, ENST00000481119, ENST00000482235, ENST00000497197
Description: Anthrax toxin receptor 1
The protein encoded by this gene is a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. This protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants have been described.
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Gene Symbol: ANTXR2 (Human)Other Aliases: CMG-2, CMG2, HFS, ISH, JHF
Refseq IDs: NM_058172, NM_001145794, NM_001286780, NM_001286781, XM_005262727, XM_005262728, XM_005262729, ENST00000295465, ENST00000307333, ENST00000346652, ENST00000403729, ENST00000404191, ENST00000449651, ENST00000482406, ENST00000491345, ENST00000506286, ENST00000514959
Description: Anthrax toxin receptor 2
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Gene Symbol: ANTXRL (Human)Other Aliases:
Refseq IDs: NR_003601, NM_001278688, ENST00000424375, ENST00000434908, ENST00000441923, ENST00000447511, ENST00000537271, ENST00000564569
Description: Anthrax toxin receptor-like
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Gene Symbol: ANTXRLP1 (Human)Other Aliases: ANTXRLP1
Refseq IDs: ENST00000454837, ENST00000543148, ENST00000605038, NR_103827, NR_103828
Description: Anthrax toxin receptor-like pseudogene 1
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Gene Symbol: AOAH-IT1 (Human)Other Aliases: AOAH-IT1
Refseq IDs: ENST00000449672, NR_046764
Description: AOAH intronic transcript 1 (non-protein coding)
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Gene Symbol: APITD1 (Human)Other Aliases: APITD1-CORT, CENP-S, CENPS, FAAP16, MHF1
Refseq IDs: XM_005263453, XM_005263454, XM_005263455, NM_199294, NR_036462, ENST00000400900, ENST00000465026, ENST00000470413, ENST00000602446
Description: Apoptosis-inducing, TAF9-like domain 1
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Gene Symbol: APPBP2 (Human)Other Aliases: APP-BP2, HS.84084, PAT1
Refseq IDs: NM_006380, NM_001282476, ENST00000083182, ENST00000585368, ENST00000588668, ENST00000589341, ENST00000590244, ENST00000592995
Description: Amyloid beta precursor protein (cytoplasmic tail) binding protein 2
The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. This gene has been found to be highly expressed in breast cancer. Multiple polyadenylation sites have been found for this gene.
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Gene Symbol: AR (Human)Other Aliases: AIS, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM
Refseq IDs: NM_000044, NM_001011645, XM_005262263, XM_005262264, XR_244495, XR_244496, XR_244497, ENST00000374690, ENST00000396043, ENST00000396044, ENST00000504326, ENST00000513847, ENST00000514029
Description: Androgen receptor
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described.
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Gene Symbol: ARHGAP22-IT1 (Human)Other Aliases: ARHGAP22-IT1
Refseq IDs: ENST00000505718
Description: ARHGAP22 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:42944]
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Gene Symbol: ARHGAP26-IT1 (Human)Other Aliases: ARHGAP26-IT1
Refseq IDs: ENST00000433186
Description: ARHGAP26 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41429]
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Gene Symbol: ARHGEF17 (Human)Other Aliases: P164RHOGEF, TEM4, p164-RhoGEF
Refseq IDs: NM_014786, ENST00000263674, ENST00000536170, ENST00000536481, ENST00000537198, ENST00000543530, ENST00000544519
Description: Rho guanine nucleotide exchange factor (GEF) 17
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Gene Symbol: ARHGEF38-IT1 (Human)Other Aliases: ARHGEF38-IT1
Refseq IDs: ENST00000512262, NR_046840
Description: ARHGEF38 intronic transcript 1 (non-protein coding)
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Gene Symbol: ARHGEF7-IT1 (Human)Other Aliases: ARHGEF7-IT1
Refseq IDs: ENST00000423329
Description: ARHGEF7 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41408]
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Gene Symbol: ARHGEF9-IT1 (Human)Other Aliases: ARHGEF9-IT1
Refseq IDs: ENST00000420917
Description: ARHGEF9 intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41401]
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Gene Symbol: ARID4B-IT1 (Human)Other Aliases: ARID4B-IT1
Refseq IDs: ENST00000357671
Description: ARID4B intronic transcript 1 (non-protein coding) [Source:HGNC Symbol;Acc:41407]
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Gene Symbol: ARIH2 (Human)Other Aliases: ARI2, TRIAD1
Refseq IDs: NM_006321, XM_005264795, XM_005264796, XM_005264797, XM_005264798, XM_005264799, ENST00000356401, ENST00000420814, ENST00000430423, ENST00000433170, ENST00000449376, ENST00000449729, ENST00000452385, ENST00000452882, ENST00000459976, ENST00000463204, ENST00000463738, ENST00000465217, ENST00000466850, ENST00000469038, ENST00000470296, ENST00000472640, ENST00000474618, ENST00000474936, ENST00000478224, ENST00000482342, ENST00000482427, ENST00000483333, ENST00000484999, ENST00000486316, ENST00000487891, ENST00000488963, ENST00000490095, ENST00000492077, ENST00000495507, ENST00000495761, ENST00000498314
Description: Ariadne homolog 2 (Drosophila)
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Gene Symbol: ARNT (Human)Other Aliases: HIF-1-beta, HIF-1beta, HIF1-beta, HIF1B, HIF1BETA, TANGO, bHLHe2
Refseq IDs: NM_001668, NM_178427, NM_001197325, NM_001286035, NM_001286036, XM_005245151, XM_005245152, XM_005245153, XM_005245154, XM_005245155, XM_005245156, XM_005245157, XM_005245158, XM_005245159, XM_005245160, ENST00000354396, ENST00000358595, ENST00000468970, ENST00000471844, ENST00000478972, ENST00000497108, ENST00000504358, ENST00000505755, ENST00000505979, ENST00000510273, ENST00000512296, ENST00000515192
Description: Aryl hydrocarbon receptor nuclear translocator
The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes that participate in xenobiotic metabolism. The ligand-free, cytosolic form of the Ah receptor is complexed to heat shock protein 90. Binding of ligand, which includes dioxin and polycyclic aromatic hydrocarbons, results in translocation of the ligand-binding subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor, hypoxia-inducible factor 1 (HIF1). A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT fusion protein, is associated with acute myeloblastic leukemia. Three alternatively spliced variants encoding different isoforms have been described for this gene.
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Gene Symbol: ARNT2 (Human)Other Aliases: bHLHe1
Refseq IDs: NM_014862, XM_005254811, XM_005254812, XM_005254813, ENST00000303329, ENST00000525103, ENST00000525505, ENST00000527771, ENST00000529181, ENST00000531595, ENST00000533983, ENST00000558849
Description: Aryl-hydrocarbon receptor nuclear translocator 2
This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting addition roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively.
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Gene Symbol: ARNTL (Human)Other Aliases: BMAL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5
Refseq IDs: NM_001178, NM_001030272, NM_001030273, XM_005252928, XM_005252929, XM_005252930, ENST00000361003, ENST00000389707, ENST00000389708, ENST00000396441, ENST00000401424, ENST00000403290, ENST00000403482, ENST00000403510, ENST00000472842, ENST00000480685, ENST00000482049, ENST00000485918, ENST00000497429, ENST00000524392, ENST00000527998, ENST00000529050, ENST00000529388, ENST00000529390, ENST00000529825, ENST00000530357, ENST00000531665, ENST00000533520, ENST00000534102, ENST00000534544
Description: Aryl hydrocarbon receptor nuclear translocator-like
The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This complex binds an E-box upstream of the PER1 gene, activating this gene and possibly other circadian rhythym-associated genes. Three transcript variants encoding two different isoforms have been found for this gene.
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Gene Symbol: ARNTL2 (Human)Other Aliases: BMAL2, CLIF, MOP9, PASD9, bHLHe6
Refseq IDs: NM_020183, NM_001248002, NM_001248003, NM_001248004, NM_001248005, ENST00000261178, ENST00000266503, ENST00000311001, ENST00000395901, ENST00000457040, ENST00000539558, ENST00000542388, ENST00000544915, ENST00000546179
Description: Aryl hydrocarbon receptor nuclear translocator-like 2
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Gene Symbol: ARPC4-TTLL3 (Human)Other Aliases:
Refseq IDs: NM_001198793
Description: ARPC4-TTLL3 readthrough
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Gene Symbol: ARRDC3 (Human)Other Aliases: TLIMP
Refseq IDs: NM_020801, ENST00000265138, ENST00000503192, ENST00000505631, ENST00000507075, ENST00000508948, ENST00000511391, ENST00000514284
Description: Arrestin domain containing 3
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Gene Symbol: ARSK (Human)Other Aliases: TSULF
Refseq IDs: NM_198150, XM_005271904
Description: Arylsulfatase family, member K
Sulfatases, such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005).[supplied by OMIM]
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