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Browse Products By Gene


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.

  1. Choose your species of interest first: Human, Mouse, Rat, Rhesus Macaque or Fruit Fly.
  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.
  3. Select the Product Line(s) that you would like to search.
  4. Click 'Submit'.
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: 693 gene(s) found matching 'COMP'
Gene Symbol: COMP (Human)Other Aliases: EDM1, EPD1, MED, PSACH, THBS5
Refseq IDs: NM_000095, XM_005259744, ENST00000222271, ENST00000425807, ENST00000542601, ENST00000546510
Description: Cartilage oligomeric matrix protein
The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED).
Products:
 RT≤ Profilerô PCR Array4 products

Gene Symbol: XRCC6P5 (Human)Other Aliases: XRCC6P5
Refseq IDs: ENST00000399535, ENST00000435236, NR_024608
Description: X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 5
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XRCC6P4 (Human)Other Aliases: XRCC6P4
Refseq IDs: ENST00000518193
Description: X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 4 [Source:HGNC Symbol;Acc:45186]
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XRCC6P3 (Human)Other Aliases: XRCC6P3
Refseq IDs: ENST00000422187
Description: X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 3 [Source:HGNC Symbol;Acc:45185]
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XRCC6P2 (Human)Other Aliases:
Refseq IDs: XM_001721068, XM_001732856, XM_001732857
Description: X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 2
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XRCC6P1 (Human)Other Aliases: XRCC6P1
Refseq IDs: ENST00000420392
Description: X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 1 [Source:HGNC Symbol;Acc:45183]
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XRCC6 (Human)Other Aliases: CTC75, CTCBF, G22P1, KU70, ML8, TLAA
Refseq IDs: NM_001469, NM_001288976, NM_001288977, NM_001288978, XM_005261487, XM_005261488, XM_005261489, ENST00000359308, ENST00000360079, ENST00000402580, ENST00000405506, ENST00000405878, ENST00000428575, ENST00000464116, ENST00000478914
Description: X-ray repair complementing defective repair in Chinese hamster cells 6
The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus.
Products:
 RT≤ Profilerô PCR Array3 products

Gene Symbol: XRCC5 (Human)Other Aliases: KARP-1, KARP1, KU80, KUB2, Ku86, NFIV
Refseq IDs: NM_021141, XM_005246836, XM_005246837, ENST00000392132, ENST00000392133, ENST00000417391, ENST00000429133, ENST00000451695, ENST00000460284, ENST00000471649, ENST00000476360, ENST00000485763, ENST00000493706
Description: X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity.
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 RT≤ Profilerô PCR Array4 products

Gene Symbol: XRCC4 (Human)Other Aliases:
Refseq IDs: NM_003401, NM_022406, NM_022550, XM_005248595, ENST00000282268, ENST00000338635, ENST00000396027, ENST00000509268, ENST00000511817, ENST00000542685
Description: X-ray repair complementing defective repair in Chinese hamster cells 4
The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. The non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced by ionizing radiation and restriction enzymes. This gene contains 8 exons, and alternative transcription initiation and alternative splicing generates several transcript variants.
Products:
 RT≤ Profilerô PCR Array1 products

Gene Symbol: XRCC3 (Human)Other Aliases: CMM6
Refseq IDs: NM_005432, NM_001100118, NM_001100119, XM_005268045, XM_005268046, XM_005268047, XM_005268048, ENST00000352127, ENST00000445556, ENST00000553264, ENST00000553332, ENST00000553361, ENST00000553807, ENST00000554170, ENST00000554774, ENST00000554811, ENST00000554913, ENST00000554974, ENST00000555055, ENST00000555231, ENST00000555451, ENST00000555832, ENST00000555964, ENST00000556682, ENST00000556980, ENST00000557439
Description: X-ray repair complementing defective repair in Chinese hamster cells 3
This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity.
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: XRCC2 (Human)Other Aliases:
Refseq IDs: NM_005431, ENST00000359321, ENST00000495707
Description: X-ray repair complementing defective repair in Chinese hamster cells 2
This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents.
Products:
 RT≤ Profilerô PCR Array2 products

Gene Symbol: XRCC1 (Human)Other Aliases: RCC
Refseq IDs: NM_006297, ENST00000262887, ENST00000543982, ENST00000594107, ENST00000594511, ENST00000595789, ENST00000597811, ENST00000598165, ENST00000598422, ENST00000599693
Description: X-ray repair complementing defective repair in Chinese hamster cells 1
The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity.
Products:
 RT≤ Profilerô PCR Array4 products

Gene Symbol: XPC (Human)Other Aliases: RAD4, XP3, XPCC
Refseq IDs: NM_004628, NM_001145769, NR_027299, ENST00000285021, ENST00000427795, ENST00000449060, ENST00000452172, ENST00000455144, ENST00000476581, ENST00000477324, ENST00000511155
Description: Xeroderma pigmentosum, complementation group C
Products:
 RT≤ Profilerô PCR Array5 products

Gene Symbol: XPA (Human)Other Aliases: XP1, XPAC
Refseq IDs: NM_000380, NR_027302, ENST00000375128, ENST00000462523, ENST00000485042, ENST00000496104
Description: Xeroderma pigmentosum, complementation group A
Products:
 RT≤ Profilerô PCR Array4 products

Gene Symbol: XKRYP6 (Human)Other Aliases: XKRYP6
Refseq IDs: ENST00000440468
Description: XK, Kell blood group complex subunit-related, Y-linked pseudogene 6 [Source:HGNC Symbol;Acc:23913]
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XKRYP5 (Human)Other Aliases: XKRYP5
Refseq IDs: ENST00000449659
Description: XK, Kell blood group complex subunit-related, Y-linked pseudogene 5 [Source:HGNC Symbol;Acc:23912]
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XKRYP4 (Human)Other Aliases: XKRYP4
Refseq IDs: ENST00000414395
Description: XK, Kell blood group complex subunit-related, Y-linked pseudogene 4 [Source:HGNC Symbol;Acc:23911]
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XKRYP3 (Human)Other Aliases: XKRYP3
Refseq IDs: ENST00000442113
Description: XK, Kell blood group complex subunit-related, Y-linked pseudogene 3 [Source:HGNC Symbol;Acc:23910]
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XKRYP2 (Human)Other Aliases: XKRYP2
Refseq IDs: ENST00000432915
Description: XK, Kell blood group complex subunit-related, Y-linked pseudogene 2 [Source:HGNC Symbol;Acc:23909]
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XKRYP1 (Human)Other Aliases: XKRYP1
Refseq IDs: ENST00000423438
Description: XK, Kell blood group complex subunit-related, Y-linked pseudogene 1 [Source:HGNC Symbol;Acc:23908]
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XKRY2 (Human)Other Aliases: AC024183.3, XKRYP7
Refseq IDs: NM_001002906, ENST00000442362, ENST00000535771
Description: XK, Kell blood group complex subunit-related, Y-linked 2
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XKRY (Human)Other Aliases: AC007742.7, XKRY1
Refseq IDs: NM_004677, ENST00000354494, ENST00000510392
Description: XK, Kell blood group complex subunit-related, Y-linked
This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XKRX (Human)Other Aliases: XKR2, XPLAC, XRG2
Refseq IDs: NM_212559, XM_005262130
Description: XK, Kell blood group complex subunit-related, X-linked
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: XKR9 (Human)Other Aliases: XRG9
Refseq IDs: NM_001011720, NM_001287258, NM_001287259, NM_001287260, ENST00000408926, ENST00000519350, ENST00000520030, ENST00000520092, ENST00000520273
Description: XK, Kell blood group complex subunit-related family, member 9
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Gene Symbol: XKR8 (Human)Other Aliases: RP11-460I13.3, XRG8, hXkr8
Refseq IDs: NM_018053, ENST00000373884, ENST00000481387
Description: XK, Kell blood group complex subunit-related family, member 8
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Gene Symbol: XKR7 (Human)Other Aliases: C20orf159, dJ310O13.4
Refseq IDs: NM_001011718
Description: XK, Kell blood group complex subunit-related family, member 7
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Gene Symbol: XKR6 (Human)Other Aliases: C8orf21, C8orf5, C8orf7, XRG6
Refseq IDs: NM_173683
Description: XK, Kell blood group complex subunit-related family, member 6
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Gene Symbol: XKR5 (Human)Other Aliases: HARL2754, UNQ2754, XRG5A, XRG5BM
Refseq IDs: NM_207411, ENST00000405979, ENST00000409172, ENST00000518724
Description: XK, Kell blood group complex subunit-related family, member 5
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Gene Symbol: XKR4 (Human)Other Aliases: XRG4
Refseq IDs: NM_052898, ENST00000327381, ENST00000518261
Description: XK, Kell blood group complex subunit-related family, member 4
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Gene Symbol: XKR3 (Human)Other Aliases: XRG3, XTES
Refseq IDs: NM_175878
Description: XK, Kell blood group complex subunit-related family, member 3
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Gene Symbol: VKORC1L1 (Human)Other Aliases:
Refseq IDs: NM_173517, NM_001284342, XM_005250159
Description: Vitamin K epoxide reductase complex, subunit 1-like 1
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: VKORC1 (Human)Other Aliases: EDTP308, IMAGE3455200, MST134, MST576, VKCFD2, VKOR
Refseq IDs: NM_024006, NM_206824, XM_005255568, XR_243303, ENST00000300851, ENST00000319788, ENST00000354895, ENST00000394971, ENST00000394975, ENST00000420057, ENST00000472468, ENST00000498155
Description: Vitamin K epoxide reductase complex, subunit 1
Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described.
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: VCPIP1 (Human)Other Aliases: DUBA3, VCIP135
Refseq IDs: NM_025054
Description: Valosin containing protein (p97)/p47 complex interacting protein 1
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 RT≤ Profilerô PCR ArrayInquire

Gene Symbol: UTP6 (Human)Other Aliases: C17orf40, HCA66
Refseq IDs: NM_018428, XM_005258012, XR_243780, ENST00000261708, ENST00000477128, ENST00000477860, ENST00000484661, ENST00000490218, ENST00000579459, ENST00000579878, ENST00000581012, ENST00000583408
Description: UTP6, small subunit (SSU) processome component, homolog (yeast)
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Gene Symbol: UTP3 (Human)Other Aliases: CRL1, CRLZ1, SAS10
Refseq IDs: NM_020368
Description: UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)
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Gene Symbol: UTP23 (Human)Other Aliases: C8orf53
Refseq IDs: NM_032334, XM_005251080, ENST00000309822, ENST00000357148, ENST00000517814, ENST00000517820, ENST00000519443, ENST00000520733, ENST00000521071, ENST00000521703, ENST00000521974, ENST00000524128
Description: UTP23, small subunit (SSU) processome component, homolog (yeast)
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Gene Symbol: UTP20 (Human)Other Aliases: DRIM
Refseq IDs: NM_014503, ENST00000261637, ENST00000551345, ENST00000551825, ENST00000551998
Description: UTP20, small subunit (SSU) processome component, homolog (yeast)
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Gene Symbol: UTP18 (Human)Other Aliases: CGI-48, WDR50
Refseq IDs: NM_016001, ENST00000225298, ENST00000508506, ENST00000579261, ENST00000582150, ENST00000582832, ENST00000583205, ENST00000583725
Description: UTP18, small subunit (SSU) processome component, homolog (yeast)
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Gene Symbol: UQCRQ (Human)Other Aliases: MC3DN4, QCR8, QP-C, QPC, UQCR7
Refseq IDs: NM_014402, ENST00000378665, ENST00000378667, ENST00000378670, ENST00000480372, ENST00000496429, ENST00000498309
Description: Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain.
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 RT≤ Profilerô PCR Array2 products

Gene Symbol: UQCR11 (Human)Other Aliases: 0710008D09Rik, QCR10, UQCR
Refseq IDs: NM_006830, ENST00000585671, ENST00000589880, ENST00000591899, ENST00000593029, ENST00000593264
Description: Ubiquinol-cytochrome c reductase, complex III subunit XI
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 RT≤ Profilerô PCR Array3 products

Gene Symbol: UQCR10 (Human)Other Aliases: HSPC051, HSPC151, QCR9, UCCR7.2, UCRC
Refseq IDs: NM_013387, NM_001003684
Description: Ubiquinol-cytochrome c reductase, complex III subunit X
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Gene Symbol: UQCC1 (Human)Other Aliases: BFZB, C20orf44, CBP3, UQCC
Refseq IDs: NM_199487, NM_018244, NM_001184977, XM_005260440, XM_005260441, XM_005260442, XM_005260443, XM_005260444, ENST00000349714, ENST00000359226, ENST00000374377, ENST00000374380, ENST00000374384, ENST00000374385, ENST00000374394, ENST00000397553, ENST00000397554, ENST00000397556, ENST00000407996, ENST00000424405, ENST00000438533, ENST00000443429, ENST00000453855, ENST00000457259, ENST00000472559, ENST00000473982, ENST00000482440, ENST00000491040, ENST00000491125, ENST00000495752, ENST00000496812, ENST00000497717, ENST00000498651, ENST00000540457, ENST00000542501
Description: Ubiquinol-cytochrome c reductase complex chaperone
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Gene Symbol: UGT2A1 (Human)Other Aliases:
Refseq IDs: NM_006798, NM_001252274, NM_001252275, ENST00000286604, ENST00000502343, ENST00000503640, ENST00000505512, ENST00000512704, ENST00000514341
Description: UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus
The olfactory neuroepithelium, which lines the posterior nasal cavity, is exposed to a wide range of odorants and airborne toxic compounds. Odorants, which are mostly small lipophilic molecules, enter the mucus flow and reach the odorant receptors on sensory neurons. Odorant sensing is generally a transient process, requiring an effective signal termination, which could be provided by biotransformation of the odorant in the epithelial supporting cells. Xenobiotic-metabolizing enzymes in the olfactory epithelium have been suggested to catalyze inactivation and facilitate elimination of odorants.[supplied by OMIM]
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 RT≤ Profilerô PCR Array2 products

Gene Symbol: UBR7 (Human)Other Aliases: C14orf130
Refseq IDs: NM_175748, NM_001100417, NR_038150, ENST00000013070, ENST00000416753, ENST00000553674, ENST00000553857, ENST00000554232, ENST00000555113, ENST00000555329, ENST00000556871
Description: Ubiquitin protein ligase E3 component n-recognin 7 (putative)
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 RT≤ Profilerô PCR Array1 products

Gene Symbol: UBR5 (Human)Other Aliases: DD5, EDD, EDD1, HYD
Refseq IDs: NM_015902, NM_001282873, XM_005250956, XM_005250957, XM_005250958, XM_005250959, XM_005250960, XM_005250961, XM_005250962, XR_242392, ENST00000220959, ENST00000517465, ENST00000518145, ENST00000518205, ENST00000519365, ENST00000519528, ENST00000520539, ENST00000520898, ENST00000521312, ENST00000521566, ENST00000521767, ENST00000521922, ENST00000522327
Description: Ubiquitin protein ligase E3 component n-recognin 5
This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation.
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 RT≤ Profilerô PCR Array1 products

Gene Symbol: UBR4 (Human)Other Aliases: RBAF600, ZUBR1, p600
Refseq IDs: NM_020765, XM_005245798, XM_005245799, XM_005245800, XM_005245801, XM_005245802, XM_005245803, XM_005245804, XM_005245805, XM_005245806, XM_005245807, XM_005245808, ENST00000375217, ENST00000375218, ENST00000375224, ENST00000375225, ENST00000375226, ENST00000375254, ENST00000375267, ENST00000417040, ENST00000419533, ENST00000425413, ENST00000429347, ENST00000459947, ENST00000465036, ENST00000466969, ENST00000467272, ENST00000475973, ENST00000483922, ENST00000486515, ENST00000492606, ENST00000494503, ENST00000497018, ENST00000543981
Description: Ubiquitin protein ligase E3 component n-recognin 4
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 RT≤ Profilerô PCR Array1 products

Gene Symbol: UBR3 (Human)Other Aliases: ZNF650
Refseq IDs: NM_172070, XM_005246298, XM_005246299, XM_005246300, ENST00000272793, ENST00000392631, ENST00000392632, ENST00000418381, ENST00000430321, ENST00000439681, ENST00000444475, ENST00000465630, ENST00000474426, ENST00000477461, ENST00000484596, ENST00000487689
Description: Ubiquitin protein ligase E3 component n-recognin 3 (putative)
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Gene Symbol: UBR2 (Human)Other Aliases: C6orf133, RP3-392M17.3, bA49A4.1, dJ242G1.1, dJ392M17.3
Refseq IDs: NM_015255, NM_001184801, XM_005248965, XM_005248966
Description: Ubiquitin protein ligase E3 component n-recognin 2
Proteolysis by the ubiquitin-proteasome system controls the concentration of many regulatory proteins. The selectivity of ubiquitylation is determined by ubiquitin E3 ligases, which recognize the substrate's destabilization signal, or degron. The E3 ligase UBR2 participates in the N-end rule pathway, which targets proteins bearing an N-terminal degron, or N-degron (Kwon et al., 2003).[supplied by OMIM]
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Gene Symbol: UBR1 (Human)Other Aliases: JBS
Refseq IDs: NM_174916, XM_005254223, ENST00000290650, ENST00000382177, ENST00000546274, ENST00000562173, ENST00000563239, ENST00000564540, ENST00000566493, ENST00000568782, ENST00000569066, ENST00000569243, ENST00000569337, ENST00000569971
Description: Ubiquitin protein ligase E3 component n-recognin 1
The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome.
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 RT≤ Profilerô PCR Array2 products

Gene Symbol: TUBGCP6 (Human)Other Aliases: GCP-6, GCP6, MCCRP, MCPHCR
Refseq IDs: NM_020461, XM_005261954, XR_244458, ENST00000248846, ENST00000425018, ENST00000434349, ENST00000439308, ENST00000473946, ENST00000489511, ENST00000491449, ENST00000498611
Description: Tubulin, gamma complex associated protein 6
The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. Two transcript variants encoding different isoforms have been found for this gene.
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Gene Symbol: TUBGCP5 (Human)Other Aliases: GCP5
Refseq IDs: NM_052903, NM_001102610, XM_005272540, ENST00000283645, ENST00000453949, ENST00000558664, ENST00000558915, ENST00000559534, ENST00000559846, ENST00000561214
Description: Tubulin, gamma complex associated protein 5
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Gene Symbol: TUBGCP4 (Human)Other Aliases: 76P, GCP-4, GCP4, Grip76
Refseq IDs: NM_014444, NM_001286414, XM_005254307, XR_243092, ENST00000260383, ENST00000399460, ENST00000561691, ENST00000562053, ENST00000563147, ENST00000563412, ENST00000563517, ENST00000563963, ENST00000564079, ENST00000564511, ENST00000565548, ENST00000566251, ENST00000570081
Description: Tubulin, gamma complex associated protein 4
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Gene Symbol: TUBGCP3 (Human)Other Aliases: 104p, GCP3, Grip104, SPBC98, Spc98, Spc98p
Refseq IDs: NM_006322, NM_001286277, NM_001286278, NM_001286279, XM_005268291, XM_005268292, XM_005268293, XR_245841, ENST00000261965, ENST00000375669, ENST00000462580, ENST00000464139, ENST00000469302, ENST00000483532
Description: Tubulin, gamma complex associated protein 3
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Gene Symbol: TUBGCP2 (Human)Other Aliases: GCP-2, GCP2, Grip103, SPBC97, Spc97p, h103p, hGCP2, hSpc97
Refseq IDs: NM_006659, NM_001256617, NM_001256618, NR_046330, ENST00000252936, ENST00000368562, ENST00000368563, ENST00000417178, ENST00000470829, ENST00000477923, ENST00000480198, ENST00000482278, ENST00000487796, ENST00000543663
Description: Tubulin, gamma complex associated protein 2
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Gene Symbol: TRAPPC9 (Human)Other Aliases: IBP, IKBKBBP, MRT13, NIBP, TRS120
Refseq IDs: NM_031466, NM_001160372, XM_005251077, ENST00000389327, ENST00000389328, ENST00000438773, ENST00000517667, ENST00000518723, ENST00000518839, ENST00000519482, ENST00000520532, ENST00000520857, ENST00000521167, ENST00000521667, ENST00000521700, ENST00000521944, ENST00000522504, ENST00000523777, ENST00000524162
Description: Trafficking protein particle complex 9
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Gene Symbol: TRAPPC8 (Human)Other Aliases: GSG1, HsT2706, KIAA1012, TRS85
Refseq IDs: NM_014939, XM_005258233, XM_005258234, XM_005258235, ENST00000283351, ENST00000577426, ENST00000577474, ENST00000578252, ENST00000578658, ENST00000578886, ENST00000580104, ENST00000581057, ENST00000582509, ENST00000582513, ENST00000582539, ENST00000584604, ENST00000584876
Description: Trafficking protein particle complex 8
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Gene Symbol: TRAPPC6B (Human)Other Aliases: TPC6
Refseq IDs: NM_177452, NM_001079537, ENST00000330149, ENST00000347691, ENST00000469361, ENST00000554018, ENST00000555269, ENST00000556765, ENST00000557764
Description: Trafficking protein particle complex 6B
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Gene Symbol: TRAPPC6A (Human)Other Aliases: TRS33
Refseq IDs: NM_024108, NM_001270891, NM_001270892, NM_001270893, ENST00000006275, ENST00000585934, ENST00000587818, ENST00000588062, ENST00000592647
Description: Trafficking protein particle complex 6A
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Gene Symbol: TRAPPC5 (Human)Other Aliases: TRS31
Refseq IDs: NM_001042461, NM_001042462, NM_174894
Description: Trafficking protein particle complex 5
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Gene Symbol: TRAPPC4 (Human)Other Aliases: HSPC172, PTD009, SBDN, SYNBINDIN, TRS23
Refseq IDs: NM_016146, XM_005271590, XM_005271591, XM_005277715, XM_005277716, XR_246453, XR_254421, ENST00000359005, ENST00000434101, ENST00000447216, ENST00000524797, ENST00000525079, ENST00000525303, ENST00000526141, ENST00000527680, ENST00000528230, ENST00000531290, ENST00000533012, ENST00000533058, ENST00000533149, ENST00000533632
Description: Trafficking protein particle complex 4
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Gene Symbol: TRAPPC3 (Human)Other Aliases: BET3
Refseq IDs: NM_014408, NM_001270894, NM_001270895, NM_001270896, NM_001270897, NR_073097, NR_073098, ENST00000373159, ENST00000373162, ENST00000373163, ENST00000373166, ENST00000462715, ENST00000469757, ENST00000497251
Description: Trafficking protein particle complex 3
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Gene Symbol: TRAPPC2P9 (Human)Other Aliases: TRAPPC2P9
Refseq IDs: ENST00000434556
Description: Trafficking protein particle complex 2 pseudogene 9 [Source:HGNC Symbol;Acc:37733]
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Gene Symbol: TRAPPC2P8 (Human)Other Aliases: TRAPPC2P8
Refseq IDs: ENST00000440676
Description: Trafficking protein particle complex 2 pseudogene 8 [Source:HGNC Symbol;Acc:37731]
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Gene Symbol: TRAPPC2P7 (Human)Other Aliases: TRAPPC2P7
Refseq IDs: ENST00000509650
Description: Trafficking protein particle complex 2 pseudogene 7 [Source:HGNC Symbol;Acc:10716]
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Gene Symbol: TRAPPC2P5 (Human)Other Aliases: TRAPPC2P5
Refseq IDs: ENST00000426293
Description: Trafficking protein particle complex 2 pseudogene 5 [Source:HGNC Symbol;Acc:10714]
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Gene Symbol: TRAPPC2P4 (Human)Other Aliases: TRAPPC2P4
Refseq IDs: ENST00000421750
Description: Trafficking protein particle complex 2 pseudogene 4 [Source:HGNC Symbol;Acc:10713]
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Gene Symbol: TRAPPC2P3 (Human)Other Aliases: TRAPPC2P3
Refseq IDs: ENST00000443200
Description: Trafficking protein particle complex 2 pseudogene 3 [Source:HGNC Symbol;Acc:10712]
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Gene Symbol: TRAPPC2P2 (Human)Other Aliases: TRAPPC2P2
Refseq IDs: ENST00000517589
Description: Trafficking protein particle complex 2 pseudogene 2 [Source:HGNC Symbol;Acc:10711]
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Gene Symbol: TRAPPC2P10 (Human)Other Aliases: TRAPPC2P10
Refseq IDs: ENST00000415662
Description: Trafficking protein particle complex 2 pseudogene 10 [Source:HGNC Symbol;Acc:37732]
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Gene Symbol: TRAPPC2L (Human)Other Aliases: HSPC176
Refseq IDs: NM_016209, XM_005256313, XM_005256314, XM_005256315, ENST00000301021, ENST00000561840, ENST00000562125, ENST00000562792, ENST00000563514, ENST00000564365, ENST00000564404, ENST00000564547, ENST00000565205, ENST00000565309, ENST00000565504, ENST00000567312, ENST00000567895, ENST00000568583
Description: Trafficking protein particle complex 2-like
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Gene Symbol: TRAPPC2 (Human)Other Aliases: MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334
Refseq IDs: NM_014563, NM_001011658, NM_001128835, ENST00000358231, ENST00000359680, ENST00000380578, ENST00000380579, ENST00000453655, ENST00000458511, ENST00000517553, ENST00000518847, ENST00000519382, ENST00000519885
Description: Trafficking protein particle complex 2
The protein encoded by this gene is thought to be part of a large multisubunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind MBP1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene.
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Gene Symbol: TRAPPC10 (Human)Other Aliases: EHOC-1, EHOC1, GT334, TMEM1, TRS130, TRS30
Refseq IDs: NM_003274, XM_005261168, XM_005261169, XR_244319, ENST00000291574, ENST00000380221, ENST00000422875, ENST00000459741, ENST00000461889, ENST00000465905, ENST00000468864, ENST00000469521, ENST00000481460, ENST00000483973, ENST00000485621, ENST00000486746
Description: Trafficking protein particle complex 10
The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. Two transcript variants encoding different isoforms have been found for this gene.
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Gene Symbol: TRAPPC1 (Human)Other Aliases: BET5, MUM2
Refseq IDs: NM_021210, NM_001166621, NR_030684, NR_030697, ENST00000303731, ENST00000540486, ENST00000571739, ENST00000571947, ENST00000572656, ENST00000573989, ENST00000575639
Description: Trafficking protein particle complex 1
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Gene Symbol: TNFR-NCD18 (Human)Other Aliases: TNFR-NCD18
Refseq IDs: L04489
Description: Homo sapiens (clone NCD18) tumor necrosis factor receptor related protein mRNA, complete exon and repeat region
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Gene Symbol: THOC7 (Human)Other Aliases: NIF3L1BP1, fSAP24, hTREX30
Refseq IDs: NM_025075, NM_001285387, NM_001285404, XM_005265494, ENST00000295899, ENST00000464327, ENST00000469153, ENST00000469584, ENST00000473141, ENST00000487570, ENST00000498422
Description: THO complex 7 homolog (Drosophila)
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Gene Symbol: THOC6 (Human)Other Aliases: BBIS, WDR58, fSAP35
Refseq IDs: NM_024339, NM_001142350, XM_005255573, XM_005255574, XM_005255575, ENST00000253952, ENST00000326266, ENST00000571046, ENST00000571057, ENST00000573704, ENST00000574498, ENST00000574549, ENST00000574957, ENST00000575576, ENST00000576143
Description: THO complex 6 homolog (Drosophila)
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Gene Symbol: THOC5 (Human)Other Aliases: C22orf19, Fmip, PK1.3, fSAP79
Refseq IDs: NM_001002877, NM_001002878, NM_001002879, NM_003678, XM_005261797, XM_005261798, XM_005261799, XM_005261800, XM_005261801, XR_244394, ENST00000358079, ENST00000397871, ENST00000397872, ENST00000397873, ENST00000414902, ENST00000418021, ENST00000428374, ENST00000440771, ENST00000442555, ENST00000443089, ENST00000455450, ENST00000472164, ENST00000475187, ENST00000484924, ENST00000488052, ENST00000490103, ENST00000492707
Description: THO complex 5
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Gene Symbol: THOC3 (Human)Other Aliases: THO3, hTREX45
Refseq IDs: NM_032361, ENST00000265097, ENST00000432305, ENST00000505969, ENST00000510300, ENST00000511062, ENST00000513006, ENST00000513118, ENST00000513482, ENST00000514250, ENST00000514861, ENST00000515016
Description: THO complex 3
TEX1 is part of the TREX (transcription/export) complex, which includes THO2 (MIM 300395), HPR1 (MIM 606930), ALY (MIM 604171), and UAP56 (MIM 606390).[supplied by OMIM]
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Gene Symbol: THOC2 (Human)Other Aliases: CXorf3, THO2, dJ506G2.1, hTREX120
Refseq IDs: NM_001081550, XM_005262447, XM_005262448, XM_005262449, XM_005262450, ENST00000245838, ENST00000355725, ENST00000416618, ENST00000419789, ENST00000432353, ENST00000433883, ENST00000438358, ENST00000441692, ENST00000448128, ENST00000455053, ENST00000459945, ENST00000464161, ENST00000464604, ENST00000464982, ENST00000464992, ENST00000491737, ENST00000492203, ENST00000496830, ENST00000497887
Description: THO complex 2
THO2 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), HPR1 (MIM 606930), ALY (MIM 604171), and UAP56 (MIM 606390).[supplied by OMIM]
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Gene Symbol: THOC1 (Human)Other Aliases: HPR1, P84, P84N5
Refseq IDs: NM_005131, ENST00000261600, ENST00000577429, ENST00000577552, ENST00000578224, ENST00000578529, ENST00000579232, ENST00000579891, ENST00000580038, ENST00000580544, ENST00000580870, ENST00000581116, ENST00000581269, ENST00000581576, ENST00000582313, ENST00000583228, ENST00000584470, ENST00000584642, ENST00000585307
Description: THO complex 1
HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 606390).[supplied by OMIM]
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Gene Symbol: TERC (Human)Other Aliases: TERC
Refseq IDs: ENST00000363312, ENST00000602385, NR_001566
Description: Telomerase RNA component
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Gene Symbol: TEN1 (Human)Other Aliases: C17orf106
Refseq IDs: NM_001113324, ENST00000397640, ENST00000416485, ENST00000585710, ENST00000586891, ENST00000588202, ENST00000590676
Description: TEN1 telomerase capping complex subunit homolog (S. cerevisiae)
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Gene Symbol: TCTE3 (Human)Other Aliases: TCTEX1D3
Refseq IDs: NM_174910
Description: T-complex-associated-testis-expressed 3
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Gene Symbol: TCTE1 (Human)Other Aliases: D6S46
Refseq IDs: NM_182539, XM_005248872, XM_005248873, XM_005248874
Description: T-complex-associated-testis-expressed 1
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Gene Symbol: TCP1P1 (Human)Other Aliases: TCP1P1
Refseq IDs: ENST00000412860
Description: T-complex 1 pseudogene 1 [Source:HGNC Symbol;Acc:11659]
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Gene Symbol: TCP11X3P (Human)Other Aliases: TCP11X3P
Refseq IDs: ENST00000508552, ENST00000514289
Description: T-complex 11 family, X-linked 3, pseudogene [Source:HGNC Symbol;Acc:48370]
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Gene Symbol: TCP11X2 (Human)Other Aliases:
Refseq IDs: XM_005262060, XM_005278121, NM_001277423, ENST00000429905, ENST00000453326, ENST00000462555
Description: T-complex 11 family, X-linked 2
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Gene Symbol: TCP11X1 (Human)Other Aliases:
Refseq IDs: XM_003846309, XM_003960071, ENST00000333110, ENST00000448512, ENST00000487514
Description: T-complex 11 family, X-linked 1
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Gene Symbol: TCP11L2 (Human)Other Aliases:
Refseq IDs: NM_152772, NM_001286262, XM_005268766, XM_005268767, XM_005268768, XM_005268769, XM_005268770, ENST00000299045, ENST00000546625, ENST00000547153, ENST00000548428, ENST00000549906, ENST00000551228, ENST00000551802, ENST00000552690, ENST00000553098, ENST00000553143
Description: T-complex 11 (mouse)-like 2
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Gene Symbol: TCP11L1 (Human)Other Aliases: dJ85M6.3
Refseq IDs: NM_018393, NM_001145541, ENST00000324357, ENST00000334274, ENST00000432887, ENST00000527661, ENST00000528107, ENST00000528898, ENST00000528962, ENST00000530171, ENST00000530419, ENST00000531632, ENST00000532687, ENST00000602733
Description: T-complex 11 (mouse)-like 1
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Gene Symbol: TCP11 (Human)Other Aliases: D6S230E, FPPR
Refseq IDs: NM_018679, NM_001093728, NM_001261817, NM_001261818, NM_001261819, NM_001261820, NM_001261821, XM_005249337, XM_005249338, XM_005249339, ENST00000244645, ENST00000311875, ENST00000373974, ENST00000373979, ENST00000394696, ENST00000412155, ENST00000418521, ENST00000427376, ENST00000444780, ENST00000445851, ENST00000455706, ENST00000469514, ENST00000479418, ENST00000486638, ENST00000492680, ENST00000502480, ENST00000503195, ENST00000503908, ENST00000504758, ENST00000505335, ENST00000505400, ENST00000505911, ENST00000507706, ENST00000509988, ENST00000510465, ENST00000512012, ENST00000514751
Description: T-complex 11 homolog (mouse)
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Gene Symbol: TCP10L2 (Human)Other Aliases: bA517H2.3
Refseq IDs: NM_001145121, ENST00000283507, ENST00000366832, ENST00000382669, ENST00000464222, ENST00000473271, ENST00000486697, ENST00000539001
Description: T-complex 10-like 2 (mouse)
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Gene Symbol: TCP10L (Human)Other Aliases: C21orf77, LINC00846, TCP10A-2
Refseq IDs: NM_144659, ENST00000334165
Description: T-complex 10 (mouse)-like
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Gene Symbol: TCP10 (Human)Other Aliases: TCP10A
Refseq IDs: NM_004610, ENST00000366827, ENST00000397829, ENST00000460930, ENST00000463894, ENST00000476779, ENST00000485157, ENST00000491085, ENST00000508373, ENST00000514083
Description: T-complex 10 homolog (mouse)
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Gene Symbol: TCP1 (Human)Other Aliases: CCT-alpha, CCT1, CCTa, D6S230E, TCP-1-alpha
Refseq IDs: NM_030752, NM_001008897, XM_005267115, XM_005267116, ENST00000321394, ENST00000392168, ENST00000420894, ENST00000467544, ENST00000536394, ENST00000536607, ENST00000536807, ENST00000537390, ENST00000538128, ENST00000538530, ENST00000539756, ENST00000539948, ENST00000543517, ENST00000543532, ENST00000544255, ENST00000545764, ENST00000546023, ENST00000546204
Description: T-complex 1
This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized.
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Gene Symbol: SYCP3 (Human)Other Aliases: COR1, SCP3, SPGF4
Refseq IDs: NM_153694, NM_001177948, NM_001177949, XM_005268922, XM_005268923, XM_005268924, XM_005268925, XM_005268926, XM_005268927, XM_005268928, ENST00000266743, ENST00000392924, ENST00000392927, ENST00000478139, ENST00000478238
Description: Synaptonemal complex protein 3
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Gene Symbol: SYCP2L (Human)Other Aliases: C6orf177, NO145, dJ62D2.1
Refseq IDs: NM_001040274, ENST00000283141, ENST00000341041, ENST00000465872, ENST00000474197, ENST00000487561, ENST00000488191, ENST00000543878
Description: Synaptonemal complex protein 2-like
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Gene Symbol: SYCP2 (Human)Other Aliases: SCP2
Refseq IDs: NM_014258, XM_005260247, XM_005260248, XM_005260249, ENST00000357552, ENST00000371001, ENST00000412613, ENST00000425931, ENST00000446834, ENST00000461538, ENST00000471331, ENST00000474749, ENST00000476314
Description: Synaptonemal complex protein 2
The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex.
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Gene Symbol: SYCP1 (Human)Other Aliases: CT8, HOM-TES-14, SCP-1, SCP1
Refseq IDs: NM_003176, NM_001282541, NM_001282542, NR_104211, XM_005271153, XM_005271154, XM_005271155, XM_005271156, XM_005271157, ENST00000369518, ENST00000369522, ENST00000455987, ENST00000468191, ENST00000477215, ENST00000477590, ENST00000482717, ENST00000493377
Description: Synaptonemal complex protein 1
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Gene Symbol: SYCE2 (Human)Other Aliases: CESC1
Refseq IDs: NM_001105578, XM_005259848, ENST00000293695, ENST00000591229, ENST00000592819
Description: Synaptonemal complex central element protein 2
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Gene Symbol: SYCE1L (Human)Other Aliases: MRP2
Refseq IDs: NM_001129979, ENST00000378644, ENST00000563157, ENST00000568925
Description: Synaptonemal complex central element protein 1-like
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Gene Symbol: SYCE1 (Human)Other Aliases: C10orf94, CT76
Refseq IDs: NM_130784, NM_001143763, NM_001143764, XM_005252699, XM_005252700, XM_005252701, ENST00000303903, ENST00000343131, ENST00000368517, ENST00000432597, ENST00000479535
Description: Synaptonemal complex central element protein 1
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Gene Symbol: SWAP70 (Human)Other Aliases: SWAP-70
Refseq IDs: NM_015055, XM_005252829, XM_005252830, ENST00000318950, ENST00000447399, ENST00000524817, ENST00000526358, ENST00000531814, ENST00000534562, ENST00000534662
Description: SWAP switching B-cell complex 70kDa subunit
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Gene Symbol: STT3B (Human)Other Aliases: SIMP, STT3-B
Refseq IDs: NM_178862, XM_005264941, ENST00000295770, ENST00000423527, ENST00000436236, ENST00000453168, ENST00000462235, ENST00000463044, ENST00000488151
Description: STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)
The SIMP protein contains a highly immunogenic minor histocompatibility antigen epitope of 9 amino acids, B6(dom1). Like ITM1 (MIM 601134), SIMP is homologous to yeast STT3, an oligosaccharyltransferase essential for cell proliferation (McBride et al., 2002).[supplied by OMIM]
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Gene Symbol: STT3A (Human)Other Aliases: ITM1, STT3-A, TMC
Refseq IDs: NM_152713, NM_001278503, NM_001278504, ENST00000392708, ENST00000524639, ENST00000525431, ENST00000525652, ENST00000525946, ENST00000526213, ENST00000526364, ENST00000526726, ENST00000527456, ENST00000527606, ENST00000529196, ENST00000529886, ENST00000531001, ENST00000531491, ENST00000531599, ENST00000534472
Description: STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)
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Gene Symbol: SPG7 (Human)Other Aliases: CAR, CMAR, PGN, SPG5C
Refseq IDs: NM_003119, NM_199367, XM_005256321, ENST00000268704, ENST00000341316, ENST00000561702, ENST00000561911, ENST00000561945, ENST00000562775, ENST00000563218, ENST00000563783, ENST00000564047, ENST00000564409, ENST00000565370, ENST00000565891, ENST00000566221, ENST00000566371, ENST00000566682, ENST00000567138, ENST00000568151, ENST00000568205, ENST00000568509, ENST00000569363, ENST00000569720, ENST00000569820
Description: Spastic paraplegia 7 (pure and complicated autosomal recessive)
This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7.
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Gene Symbol: SPEG (Human)Other Aliases: APEG-1, APEG1, BPEG, SPEGalpha, SPEGbeta
Refseq IDs: NM_005876, NM_001173476, XM_005246235, XM_005246236, XM_005246237, XM_005246238, XM_005246239, XM_005246240, XM_005246241, XM_005246242, ENST00000312358, ENST00000396686, ENST00000396688, ENST00000396689, ENST00000396695, ENST00000396698, ENST00000403148, ENST00000409595, ENST00000412982, ENST00000420132, ENST00000431523, ENST00000435853, ENST00000451076, ENST00000452101, ENST00000462545, ENST00000463218, ENST00000464989, ENST00000475104, ENST00000475921, ENST00000485069, ENST00000485813, ENST00000491248, ENST00000496786, ENST00000497065, ENST00000498378
Description: SPEG complex locus
Expression of this gene is thought to serve as a marker for differentiated vascular smooth muscle cells which may have a role in regulating growth and differentiation of this cell type. The encoded protein is highly similar to the corresponding rat and mouse proteins. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of only one variant has been defined.
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Gene Symbol: SPCS3 (Human)Other Aliases: 23, PRO3567, SPC22, SPC3, YLR066W
Refseq IDs: NM_021928, ENST00000503362, ENST00000507001, ENST00000507678, ENST00000513139
Description: Signal peptidase complex subunit 3 homolog (S. cerevisiae)
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Gene Symbol: SPCS2P4 (Human)Other Aliases: SPCS2P4
Refseq IDs: ENST00000436160, ENST00000543748
Description: Signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 4 [Source:HGNC Symbol;Acc:45237]
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Gene Symbol: SPCS2P3 (Human)Other Aliases: SPCS2P3
Refseq IDs: ENST00000500401
Description: Signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 3 [Source:HGNC Symbol;Acc:45236]
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Gene Symbol: SPCS2P1 (Human)Other Aliases: SPCS2P
Refseq IDs: XM_170777
Description: Signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 1
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Gene Symbol: SPCS2 (Human)Other Aliases:
Refseq IDs: NM_014752, ENST00000263672, ENST00000526361, ENST00000526883, ENST00000527225, ENST00000527290, ENST00000528265, ENST00000530257, ENST00000532972
Description: Signal peptidase complex subunit 2 homolog (S. cerevisiae)
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Gene Symbol: SPCS1 (Human)Other Aliases: SPC1, SPC12, YJR010C-A
Refseq IDs: NM_014041, XM_005265093, ENST00000233025, ENST00000423431, ENST00000448693, ENST00000474945, ENST00000602728
Description: Signal peptidase complex subunit 1 homolog (S. cerevisiae)
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Gene Symbol: SPC25 (Human)Other Aliases: SPBC25, hSpc25
Refseq IDs: NM_020675, XM_005246702, XM_005276750, ENST00000282074, ENST00000451987, ENST00000472216, ENST00000479309
Description: SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)
This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity.
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Gene Symbol: SPC24 (Human)Other Aliases: SPBC24
Refseq IDs: NM_182513, XM_005259753
Description: SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)
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Gene Symbol: SNTB2 (Human)Other Aliases: D16S2531E, EST25263, SNT2B2, SNT3, SNTL
Refseq IDs: NM_006750, XM_005256120, ENST00000336278, ENST00000360496, ENST00000467311, ENST00000524887, ENST00000525632, ENST00000528525
Description: Syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)
Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes.
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Gene Symbol: SNTB1 (Human)Other Aliases: 59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43
Refseq IDs: NM_021021, XM_005251031, XM_005251032, ENST00000395601, ENST00000517992, ENST00000519177, ENST00000519298, ENST00000520717
Description: Syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes.
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Gene Symbol: SNTA1 (Human)Other Aliases: LQT12, SNT1, TACIP1, dJ1187J4.5
Refseq IDs: NM_003098, XM_005260517, XM_005260518, XR_244147, ENST00000217381
Description: Syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)
Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes.
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Gene Symbol: SNF8 (Human)Other Aliases: Dot3, EAP30, VPS22
Refseq IDs: NM_007241, XM_005256979, ENST00000290330, ENST00000502492, ENST00000504000, ENST00000506104, ENST00000507302, ENST00000509989, ENST00000509995, ENST00000510195, ENST00000510558, ENST00000511214, ENST00000512243, ENST00000514089, ENST00000514929, ENST00000515174, ENST00000515572, ENST00000573795, ENST00000576353
Description: SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)
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Gene Symbol: SNCA (Human)Other Aliases: NACP, PARK1, PARK4, PD1
Refseq IDs: NM_000345, NM_007308, NM_001146054, NM_001146055, XM_005263182, XM_005263183, XM_005263184, XM_005263185, XM_005263186, XM_005263187, XM_005263188, XM_005263189
Description: Synuclein, alpha (non A4 component of amyloid precursor)
Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Two alternatively spliced transcripts of SNCA have been identified. Additional splicing may be present but the full-length nature of these variants has not been determined.
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Gene Symbol: SNAPC5P1 (Human)Other Aliases: SNAPC5P1
Refseq IDs: ENST00000403621
Description: Small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1 [Source:HGNC Symbol;Acc:38667]
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Gene Symbol: SNAPC5 (Human)Other Aliases: SNAP19
Refseq IDs: NM_006049
Description: Small nuclear RNA activating complex, polypeptide 5, 19kDa
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Gene Symbol: SNAPC4 (Human)Other Aliases: PTFalpha, SNAP190
Refseq IDs: NM_003086, XM_005266096, XM_005266097
Description: Small nuclear RNA activating complex, polypeptide 4, 190kDa
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Gene Symbol: SNAPC3 (Human)Other Aliases: PTFbeta, SNAP50
Refseq IDs: NM_001039697, XM_005251559, XM_005251560, ENST00000380799, ENST00000380821, ENST00000421710, ENST00000461041, ENST00000467062, ENST00000490969
Description: Small nuclear RNA activating complex, polypeptide 3, 50kDa
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Gene Symbol: SNAPC2 (Human)Other Aliases: PTFDELTA, SNAP45
Refseq IDs: NM_003083, NR_030717, ENST00000221573, ENST00000593598, ENST00000595035, ENST00000595637, ENST00000596520, ENST00000597584
Description: Small nuclear RNA activating complex, polypeptide 2, 45kDa
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