psui3905/ncbi_genes_summary huggingface dataset:
SGSH, Official Symbol SGSHprovided by HGNC Official Full Name N-sulfoglucosamine sulfohydrolaseprovided by HGNC Primary source HGNC:HGNC:10818 See related Ensembl:ENSG00000181523 MIM:605270; AllianceGenome:HGNC:10818 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSS; SFMD; MPS3A Summary This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017] Expression Ubiquitous expression in spleen (RPKM 9.6), adrenal (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
SGSM1, Official Symbol SGSM1provided by HGNC Official Full Name small G protein signaling modulator 1provided by HGNC Primary source HGNC:HGNC:29410 See related Ensembl:ENSG00000167037 MIM:611417; AllianceGenome:HGNC:29410 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RUTBC2 Summary Enables GTPase activator activity and small GTPase binding activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in cytoplasmic vesicle membrane and cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 6.6), heart (RPKM 5.6) and 15 other tissues See more Orthologs mouse all
SGSM2, Official Symbol SGSM2provided by HGNC Official Full Name small G protein signaling modulator 2provided by HGNC Primary source HGNC:HGNC:29026 See related Ensembl:ENSG00000141258 MIM:611418; AllianceGenome:HGNC:29026 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RUTBC1 Summary The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in brain (RPKM 17.5), prostate (RPKM 14.3) and 25 other tissues See more Orthologs mouse all
SGSM3, Official Symbol SGSM3provided by HGNC Official Full Name small G protein signaling modulator 3provided by HGNC Primary source HGNC:HGNC:25228 See related Ensembl:ENSG00000100359 MIM:610440; AllianceGenome:HGNC:25228 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MAP; CIP85; RUSC3; RUTBC3; RABGAP5; RabGAP-5; rabGAPLP Summary Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including Rap protein signal transduction; positive regulation of GTPase activity; and regulation of Rab protein signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in stomach (RPKM 33.5), prostate (RPKM 23.3) and 25 other tissues See more Orthologs mouse all
SGTA, Official Symbol SGTAprovided by HGNC Official Full Name small glutamine rich tetratricopeptide repeat co-chaperone alphaprovided by HGNC Primary source HGNC:HGNC:10819 See related Ensembl:ENSG00000104969 MIM:603419; AllianceGenome:HGNC:10819 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SGT; Vpu; SGT1; hSGT; alphaSGT Summary This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 22.5), brain (RPKM 21.2) and 25 other tissues See more Orthologs mouse all
SGTB, Official Symbol SGTBprovided by HGNC Official Full Name small glutamine rich tetratricopeptide repeat co-chaperone betaprovided by HGNC Primary source HGNC:HGNC:23567 See related Ensembl:ENSG00000197860 AllianceGenome:HGNC:23567 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SGT2 Summary Predicted to enable molecular adaptor activity. Predicted to be involved in positive regulation of chaperone-mediated protein folding; posttranslational protein targeting to endoplasmic reticulum membrane; and ubiquitin-dependent ERAD pathway. Predicted to be part of TRC complex. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 18.1), appendix (RPKM 4.3) and 19 other tissues See more Orthologs mouse all
SH2B1, Official Symbol SH2B1provided by HGNC Official Full Name SH2B adaptor protein 1provided by HGNC Primary source HGNC:HGNC:30417 See related Ensembl:ENSG00000178188 MIM:608937; AllianceGenome:HGNC:30417 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PSM; SH2B Summary This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in ovary (RPKM 12.3), spleen (RPKM 12.2) and 25 other tissues See more Orthologs mouse all
SH2B2, Official Symbol SH2B2provided by HGNC Official Full Name SH2B adaptor protein 2provided by HGNC Primary source HGNC:HGNC:17381 See related Ensembl:ENSG00000160999 MIM:605300; AllianceGenome:HGNC:17381 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APS Summary The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009] Expression Broad expression in lymph node (RPKM 2.3), spleen (RPKM 2.2) and 22 other tissues See more Orthologs mouse all
SH2B3, Official Symbol SH2B3provided by HGNC Official Full Name SH2B adaptor protein 3provided by HGNC Primary source HGNC:HGNC:29605 See related Ensembl:ENSG00000111252 MIM:605093; AllianceGenome:HGNC:29605 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LNK; IDDM20 Summary This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014] Expression Ubiquitous expression in bone marrow (RPKM 12.8), spleen (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
SH2D1A, Official Symbol SH2D1Aprovided by HGNC Official Full Name SH2 domain containing 1Aprovided by HGNC Primary source HGNC:HGNC:10820 See related Ensembl:ENSG00000183918 MIM:300490; AllianceGenome:HGNC:10820 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LYP; SAP; XLP; DSHP; EBVS; IMD5; XLPD; MTCP1; XLPD1; SAP/SH2D1A Summary This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in lymph node (RPKM 17.0), spleen (RPKM 6.1) and 7 other tissues See more Orthologs mouse all
SH2D1B, Official Symbol SH2D1Bprovided by HGNC Official Full Name SH2 domain containing 1Bprovided by HGNC Primary source HGNC:HGNC:30416 See related Ensembl:ENSG00000198574 MIM:608510; AllianceGenome:HGNC:30416 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EAT2 Summary By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008] Expression Broad expression in spleen (RPKM 4.0), bone marrow (RPKM 1.8) and 14 other tissues See more Orthologs all
SH2D2A, Official Symbol SH2D2Aprovided by HGNC Official Full Name SH2 domain containing 2Aprovided by HGNC Primary source HGNC:HGNC:10821 See related Ensembl:ENSG00000027869 MIM:604514; AllianceGenome:HGNC:10821 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCAP; TSAD; VRAP; F2771 Summary This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Expression Broad expression in appendix (RPKM 5.2), lymph node (RPKM 3.5) and 17 other tissues See more Orthologs mouse all
SH2D3A, Official Symbol SH2D3Aprovided by HGNC Official Full Name SH2 domain containing 3Aprovided by HGNC Primary source HGNC:HGNC:16885 See related Ensembl:ENSG00000125731 MIM:604721; AllianceGenome:HGNC:16885 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NSP1 Summary Predicted to enable guanyl-nucleotide exchange factor activity and phosphotyrosine residue binding activity. Predicted to be involved in positive regulation of peptidyl-serine phosphorylation. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in stomach (RPKM 5.1), colon (RPKM 4.9) and 20 other tissues See more Orthologs mouse all
SH2D3C, Official Symbol SH2D3Cprovided by HGNC Official Full Name SH2 domain containing 3Cprovided by HGNC Primary source HGNC:HGNC:16884 See related Ensembl:ENSG00000095370 MIM:604722; AllianceGenome:HGNC:16884 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CHAT; NSP3; SHEP1; PRO34088 Summary This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Expression Broad expression in spleen (RPKM 12.4), lung (RPKM 10.5) and 22 other tissues See more Orthologs mouse all
SH2D4A, Official Symbol SH2D4Aprovided by HGNC Official Full Name SH2 domain containing 4Aprovided by HGNC Primary source HGNC:HGNC:26102 See related Ensembl:ENSG00000104611 MIM:614968; AllianceGenome:HGNC:26102 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SH2A; PPP1R38 Summary Enables phosphatase binding activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 11.6), stomach (RPKM 9.2) and 22 other tissues See more Orthologs mouse all
SH2D4B, Official Symbol SH2D4Bprovided by HGNC Official Full Name SH2 domain containing 4Bprovided by HGNC Primary source HGNC:HGNC:31440 See related Ensembl:ENSG00000178217 AllianceGenome:HGNC:31440 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SH2D5, Official Symbol SH2D5provided by HGNC Official Full Name SH2 domain containing 5provided by HGNC Primary source HGNC:HGNC:28819 See related Ensembl:ENSG00000189410 AllianceGenome:HGNC:28819 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to be active in postsynaptic density. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 4.0), testis (RPKM 2.1) and 3 other tissues See more Orthologs mouse all
SH2D6, Official Symbol SH2D6provided by HGNC Official Full Name SH2 domain containing 6provided by HGNC Primary source HGNC:HGNC:30439 See related Ensembl:ENSG00000152292 AllianceGenome:HGNC:30439 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLNK Summary Predicted to be involved in intracellular signal transduction and transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.1), duodenum (RPKM 0.9) and 9 other tissues See more Orthologs mouse all
SH2D7, Official Symbol SH2D7provided by HGNC Official Full Name SH2 domain containing 7provided by HGNC Primary source HGNC:HGNC:34549 See related Ensembl:ENSG00000183476 AllianceGenome:HGNC:34549 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more Orthologs mouse all
SH3BGR, Official Symbol SH3BGRprovided by HGNC Official Full Name SH3 domain binding glutamate rich proteinprovided by HGNC Primary source HGNC:HGNC:10822 See related Ensembl:ENSG00000185437 MIM:602230; AllianceGenome:HGNC:10822 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 21-GARP Summary Predicted to enable SH3 domain binding activity. Predicted to be involved in protein-containing complex assembly. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 36.2), prostate (RPKM 11.6) and 10 other tissues See more Orthologs mouse all
SH3BGRL, Official Symbol SH3BGRLprovided by HGNC Official Full Name SH3 domain binding glutamate rich protein likeprovided by HGNC Primary source HGNC:HGNC:10823 See related Ensembl:ENSG00000131171 MIM:300190; AllianceGenome:HGNC:10823 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SH3BGR; HEL-S-115 Summary Predicted to enable SH3 domain binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 90.2), urinary bladder (RPKM 79.0) and 25 other tissues See more Orthologs mouse all
SH3BGRL2, Official Symbol SH3BGRL2provided by HGNC Official Full Name SH3 domain binding glutamate rich protein like 2provided by HGNC Primary source HGNC:HGNC:15567 See related Ensembl:ENSG00000198478 MIM:615678; AllianceGenome:HGNC:15567 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable SH3 domain binding activity. Located in nuclear membrane and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in salivary gland (RPKM 15.4), thyroid (RPKM 15.2) and 23 other tissues See more Orthologs mouse all
SH3BGRL3, Official Symbol SH3BGRL3provided by HGNC Official Full Name SH3 domain binding glutamate rich protein like 3provided by HGNC Primary source HGNC:HGNC:15568 See related Ensembl:ENSG00000142669 MIM:615679; AllianceGenome:HGNC:15568 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TIP-B1; SH3BP-1; HEL-S-297 Summary Located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 140.1), colon (RPKM 114.4) and 25 other tissues See more Orthologs mouse all
SH3BP1, Official Symbol SH3BP1provided by HGNC Official Full Name SH3 domain binding protein 1provided by HGNC Primary source HGNC:HGNC:10824 See related Ensembl:ENSG00000100092 MIM:617368; AllianceGenome:HGNC:10824 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARHGAP43 Summary This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues. [provided by RefSeq, Mar 2017] Expression Broad expression in spleen (RPKM 13.4), appendix (RPKM 12.6) and 23 other tissues See more Orthologs mouse all
SH3BP2, Official Symbol SH3BP2provided by HGNC Official Full Name SH3 domain binding protein 2provided by HGNC Primary source HGNC:HGNC:10825 See related Ensembl:ENSG00000087266 MIM:602104; AllianceGenome:HGNC:10825 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 3BP2; CRBM; CRPM; 3BP-2; RES4-23 Summary The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in spleen (RPKM 16.5), skin (RPKM 14.5) and 25 other tissues See more Orthologs mouse all
SH3BP4, Official Symbol SH3BP4provided by HGNC Official Full Name SH3 domain binding protein 4provided by HGNC Primary source HGNC:HGNC:10826 See related Ensembl:ENSG00000130147 MIM:605611; AllianceGenome:HGNC:10826 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TTP; BOG25 Summary This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in salivary gland (RPKM 12.0), gall bladder (RPKM 8.4) and 24 other tissues See more Orthologs mouse all
SH3BP5, Official Symbol SH3BP5provided by HGNC Official Full Name SH3 domain binding protein 5provided by HGNC Primary source HGNC:HGNC:10827 See related Ensembl:ENSG00000131370 MIM:605612; AllianceGenome:HGNC:10827 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SAB; SH3BP-5 Summary Enables guanyl-nucleotide exchange factor activity and protein kinase inhibitor activity. Acts upstream of or within intracellular signal transduction. Located in cytoplasmic vesicle membrane and nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 64.1), fat (RPKM 35.1) and 24 other tissues See more Orthologs mouse all
SH3BP5-AS1, Official Symbol SH3BP5-AS1provided by HGNC Official Full Name SH3BP5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44501 See related Ensembl:ENSG00000224660 AllianceGenome:HGNC:44501 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in adrenal (RPKM 45.6), fat (RPKM 24.4) and 24 other tissues See more
SH3BP5L, Official Symbol SH3BP5Lprovided by HGNC Official Full Name SH3 binding domain protein 5 likeprovided by HGNC Primary source HGNC:HGNC:29360 See related Ensembl:ENSG00000175137 AllianceGenome:HGNC:29360 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in intracellular signal transduction and negative regulation of protein tyrosine kinase activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 5.3), brain (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
SH3D19, Official Symbol SH3D19provided by HGNC Official Full Name SH3 domain containing 19provided by HGNC Primary source HGNC:HGNC:30418 See related Ensembl:ENSG00000109686 MIM:608674; AllianceGenome:HGNC:30418 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EBP; EVE1; Kryn; Eve-1; SH3P19 Summary This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in fat (RPKM 43.0), gall bladder (RPKM 40.6) and 23 other tissues See more Orthologs mouse all
SH3D21, Official Symbol SH3D21provided by HGNC Official Full Name SH3 domain containing 21provided by HGNC Primary source HGNC:HGNC:26236 See related Ensembl:ENSG00000214193 AllianceGenome:HGNC:26236 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C1orf113 Summary Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 7.0), skin (RPKM 5.6) and 23 other tissues See more Orthologs mouse all
SH3GL1, Official Symbol SH3GL1provided by HGNC Official Full Name SH3 domain containing GRB2 like 1, endophilin A2provided by HGNC Primary source HGNC:HGNC:10830 See related Ensembl:ENSG00000141985 MIM:601768; AllianceGenome:HGNC:10830 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EEN; CNSA1; SH3P8; SH3D2B Summary This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in esophagus (RPKM 47.4), placenta (RPKM 27.1) and 25 other tissues See more Orthologs mouse all
SH3GL2, Official Symbol SH3GL2provided by HGNC Official Full Name SH3 domain containing GRB2 like 2, endophilin A1provided by HGNC Primary source HGNC:HGNC:10831 See related Ensembl:ENSG00000107295 MIM:604465; AllianceGenome:HGNC:10831 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CNSA2; SH3P4; EEN-B1; SH3D2A Summary Enables identical protein binding activity. Involved in negative regulation of blood-brain barrier permeability; negative regulation of gene expression; and negative regulation of protein phosphorylation. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 24.2), kidney (RPKM 2.6) and 1 other tissue See more Orthologs mouse all
SH3GL3, Official Symbol SH3GL3provided by HGNC Official Full Name SH3 domain containing GRB2 like 3, endophilin A3provided by HGNC Primary source HGNC:HGNC:10832 See related Ensembl:ENSG00000140600 MIM:603362; AllianceGenome:HGNC:10832 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CNSA3; EEN-B2; SH3D2C; SH3P13; HsT19371 Summary Enables identical protein binding activity. Predicted to be involved in synaptic vesicle uncoating. Predicted to be located in acrosomal vesicle; early endosome membrane; and presynapse. Predicted to be part of early endosome. Predicted to be active in glutamatergic synapse; postsynaptic density, intracellular component; and postsynaptic endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 8.3), brain (RPKM 5.2) and 1 other tissue See more Orthologs mouse all
SH3GLB1, Official Symbol SH3GLB1provided by HGNC Official Full Name SH3 domain containing GRB2 like, endophilin B1provided by HGNC Primary source HGNC:HGNC:10833 See related Ensembl:ENSG00000097033 MIM:609287; AllianceGenome:HGNC:10833 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Bif-1; CGI-61; PPP1R70; dJ612B15.2 Summary This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in fat (RPKM 36.8), testis (RPKM 20.8) and 25 other tissues See more Orthologs mouse all
SH3GLB2, Official Symbol SH3GLB2provided by HGNC Official Full Name SH3 domain containing GRB2 like, endophilin B2provided by HGNC Primary source HGNC:HGNC:10834 See related Ensembl:ENSG00000148341 MIM:609288; AllianceGenome:HGNC:10834 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RRIG1; PP6569; PP9455 Summary Enables identical protein binding activity. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 45.1), prostate (RPKM 29.7) and 25 other tissues See more Orthologs mouse all
SH3KBP1, Official Symbol SH3KBP1provided by HGNC Official Full Name SH3 domain containing kinase binding protein 1provided by HGNC Primary source HGNC:HGNC:13867 See related Ensembl:ENSG00000147010 MIM:300374; AllianceGenome:HGNC:13867 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSB1; AGMX2; CIN85; GIG10; HSB-1; IMD61; MIG18; CD2BP3 Summary This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in lymph node (RPKM 19.2), fat (RPKM 15.0) and 24 other tissues See more Orthologs mouse all
SH3PXD2A, Official Symbol SH3PXD2Aprovided by HGNC Official Full Name SH3 and PX domains 2Aprovided by HGNC Primary source HGNC:HGNC:23664 See related Ensembl:ENSG00000107957 MIM:619455; AllianceGenome:HGNC:23664 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FISH; TKS5; SH3MD1 Summary Predicted to enable superoxide-generating NADPH oxidase activator activity. Involved in osteoclast fusion and superoxide metabolic process. Located in podosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 4.2), ovary (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
SH3PXD2A-AS1, Official Symbol SH3PXD2A-AS1provided by HGNC Official Full Name SH3PXD2A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:45242 See related Ensembl:ENSG00000280693 AllianceGenome:HGNC:45242 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in esophagus (RPKM 6.9) and skin (RPKM 2.8) See more
SH3PXD2B, Official Symbol SH3PXD2Bprovided by HGNC Official Full Name SH3 and PX domains 2Bprovided by HGNC Primary source HGNC:HGNC:29242 See related Ensembl:ENSG00000174705 MIM:613293; AllianceGenome:HGNC:29242 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FTHS; HOFI; TKS4; TSK4; FAD49; KIAA1295 Summary This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Ubiquitous expression in gall bladder (RPKM 13.5), endometrium (RPKM 11.8) and 23 other tissues See more Orthologs mouse all
SH3RF1, Official Symbol SH3RF1provided by HGNC Official Full Name SH3 domain containing ring finger 1provided by HGNC Primary source HGNC:HGNC:17650 See related Ensembl:ENSG00000154447 MIM:618642; AllianceGenome:HGNC:17650 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as POSH; RNF142; SH3MD2 Summary This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 11.9), stomach (RPKM 11.2) and 24 other tissues See more Orthologs mouse all
SH3RF2, Official Symbol SH3RF2provided by HGNC Official Full Name SH3 domain containing ring finger 2provided by HGNC Primary source HGNC:HGNC:26299 See related Ensembl:ENSG00000156463 MIM:613377; AllianceGenome:HGNC:26299 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HEPP1; POSHER; RNF158; PPP1R39 Summary Enables protein phosphatase 1 binding activity and ubiquitin protein ligase activity. Involved in several processes, including positive regulation of JNK cascade; protein autoubiquitination; and regulation of cellular protein metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 22.7), testis (RPKM 19.4) and 12 other tissues See more Orthologs mouse all
SH3RF3, Official Symbol SH3RF3provided by HGNC Official Full Name SH3 domain containing ring finger 3provided by HGNC Primary source HGNC:HGNC:24699 See related Ensembl:ENSG00000172985 MIM:618933; AllianceGenome:HGNC:24699 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as POSH2; SH3MD4 Summary Enables ubiquitin protein ligase activity. Involved in positive regulation of JNK cascade and protein autoubiquitination. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 1.9), gall bladder (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
SH3RF3-AS1, Official Symbol SH3RF3-AS1provided by HGNC Official Full Name SH3RF3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44168 See related AllianceGenome:HGNC:44168 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SH3TC1, Official Symbol SH3TC1provided by HGNC Official Full Name SH3 domain and tetratricopeptide repeats 1provided by HGNC Primary source HGNC:HGNC:26009 See related Ensembl:ENSG00000125089 AllianceGenome:HGNC:26009 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in spleen (RPKM 7.5), kidney (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
SH3TC2, Official Symbol SH3TC2provided by HGNC Official Full Name SH3 domain and tetratricopeptide repeats 2provided by HGNC Primary source HGNC:HGNC:29427 See related Ensembl:ENSG00000169247 MIM:608206; AllianceGenome:HGNC:29427 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MNMN; CMT4C Summary This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 1.4), brain (RPKM 0.6) and 6 other tissues See more Orthologs mouse all
SH3TC2-DT, Official Symbol SH3TC2-DTprovided by HGNC Official Full Name SH3TC2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:52905 See related Ensembl:ENSG00000250072 AllianceGenome:HGNC:52905 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
SH3YL1, Official Symbol SH3YL1provided by HGNC Official Full Name SH3 and SYLF domain containing 1provided by HGNC Primary source HGNC:HGNC:29546 See related Ensembl:ENSG00000035115 MIM:617314; AllianceGenome:HGNC:29546 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RAY Summary Enables phosphatase binding activity and phosphatidylinositol binding activity. Predicted to act upstream of or within phosphatidylinositol biosynthetic process and regulation of ruffle assembly. Located in ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 16.8), thyroid (RPKM 9.9) and 24 other tissues See more Orthologs mouse all
SHANK1, Official Symbol SHANK1provided by HGNC Official Full Name SH3 and multiple ankyrin repeat domains 1provided by HGNC Primary source HGNC:HGNC:15474 See related Ensembl:ENSG00000161681 MIM:604999; AllianceGenome:HGNC:15474 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SSTRIP; SPANK-1; synamon Summary This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016] Expression Biased expression in brain (RPKM 17.7) and adrenal (RPKM 0.7) See more Orthologs mouse all
SHANK2, Official Symbol SHANK2provided by HGNC Official Full Name SH3 and multiple ankyrin repeat domains 2provided by HGNC Primary source HGNC:HGNC:14295 See related Ensembl:ENSG00000162105 MIM:603290; AllianceGenome:HGNC:14295 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SHANK; AUTS17; CORTBP1; CTTNBP1; ProSAP1; SPANK-3 Summary This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Broad expression in brain (RPKM 4.2), kidney (RPKM 2.6) and 18 other tissues See more Orthologs mouse all
SHANK2-AS1, Official Symbol SHANK2-AS1provided by HGNC Official Full Name SHANK2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40014 See related Ensembl:ENSG00000226627 AllianceGenome:HGNC:40014 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
SHANK2-AS2, Official Symbol SHANK2-AS2provided by HGNC Official Full Name SHANK2 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40015 See related AllianceGenome:HGNC:40015 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
SHANK2-AS3, Official Symbol SHANK2-AS3provided by HGNC Official Full Name SHANK2 antisense RNA 3provided by HGNC Primary source HGNC:HGNC:25098 See related Ensembl:ENSG00000171671 AllianceGenome:HGNC:25098 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C11orf76 Expression Low expression observed in reference dataset See more
SHANK3, Official Symbol SHANK3provided by HGNC Official Full Name SH3 and multiple ankyrin repeat domains 3provided by HGNC Primary source HGNC:HGNC:14294 See related Ensembl:ENSG00000251322 MIM:606230; AllianceGenome:HGNC:14294 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PSAP2; SCZD15; PROSAP2; SPANK-2; DEL22q13.3 Summary This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012] Annotation information Annotation category: suggests misassembly Annotation category: partial on reference assembly Expression Broad expression in spleen (RPKM 33.0), fat (RPKM 32.0) and 15 other tissues See more Orthologs mouse all