psui3905/ncbi_genes_summary huggingface dataset:
SV2C, Official Symbol SV2Cprovided by HGNC Official Full Name synaptic vesicle glycoprotein 2Cprovided by HGNC Primary source HGNC:HGNC:30670 See related Ensembl:ENSG00000122012 MIM:610291; AllianceGenome:HGNC:30670 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 SLC22B3 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in chemical synaptic transmission; neurotransmitter transport; and transmembrane transport. Predicted to be located in plasma membrane and synaptic vesicle. Predicted to be active in neuron projection and synaptic vesicle membrane. Predicted to be integral component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 1.2), adrenal (RPKM 0.7) and 8 other tissues See more Orthologs mouse all
SVBP, Official Symbol SVBPprovided by HGNC Official Full Name small vasohibin binding proteinprovided by HGNC Primary source HGNC:HGNC:29204 See related Ensembl:ENSG00000177868 MIM:617853; AllianceGenome:HGNC:29204 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 CCDC23; NEDAHM Summary Enables microtubule binding activity. Involved in axon development; proteolysis; and regulation of metallopeptidase activity. Acts upstream of or within negative regulation of endothelial cell migration; negative regulation of protein ubiquitination; and protein secretion. Located in apical part of cell. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 21.3), fat (RPKM 15.7) and 24 other tissues See more Orthologs mouse all
SVEP1, Official Symbol SVEP1provided by HGNC Official Full Name sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1provided by HGNC Primary source HGNC:HGNC:15985 See related Ensembl:ENSG00000165124 MIM:611691; AllianceGenome:HGNC:15985 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 CCP22; SELOB; SEL-OB; C9orf13; POLYDOM Summary Predicted to enable calcium ion binding activity and chromatin binding activity. Predicted to be involved in epidermis development and lymph vessel morphogenesis. Predicted to act upstream of or within several processes, including Tie signaling pathway; lymph circulation; and lymph vessel development. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in placenta (RPKM 31.0), fat (RPKM 15.2) and 13 other tissues See more Orthologs mouse all
SVIL, Official Symbol SVILprovided by HGNC Official Full Name supervillinprovided by HGNC Primary source HGNC:HGNC:11480 See related Ensembl:ENSG00000197321 MIM:604126; AllianceGenome:HGNC:11480 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 MFM10 Summary This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016] Expression Broad expression in heart (RPKM 40.9), esophagus (RPKM 29.0) and 21 other tissues See more Orthologs mouse all
SVIL-AS1, Official Symbol SVIL-AS1provided by HGNC Official Full Name SVIL antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51219 See related Ensembl:ENSG00000291093 AllianceGenome:HGNC:51219 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 heart (RPKM 7.5), esophagus (RPKM 7.4) and 25 other tissues See more
SVIP, Official Symbol SVIPprovided by HGNC Official Full Name small VCP interacting proteinprovided by HGNC Primary source HGNC:HGNC:25238 See related Ensembl:ENSG00000198168 AllianceGenome:HGNC:25238 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 Summary Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in thyroid (RPKM 21.5), stomach (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
SVOP, Official Symbol SVOPprovided by HGNC Official Full Name SV2 related proteinprovided by HGNC Primary source HGNC:HGNC:25417 See related Ensembl:ENSG00000166111 MIM:611699; AllianceGenome:HGNC:25417 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 SLC22B4 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in synaptic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 14.1) and adrenal (RPKM 0.9) See more Orthologs mouse all
SVOPL, Official Symbol SVOPLprovided by HGNC Official Full Name SVOP likeprovided by HGNC Primary source HGNC:HGNC:27034 See related Ensembl:ENSG00000157703 MIM:611700; AllianceGenome:HGNC:27034 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 SLC22B5 Summary The protein encoded by this gene is thought to be a member of solute carrier family 22, which includes transmembrane proteins that transport toxins and drugs from the body. This gene is a paralog of the SVOP gene that encodes synaptic vesicle 2-related protein. [provided by RefSeq, Sep 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
SWAP70, Official Symbol SWAP70provided by HGNC Official Full Name switching B cell complex subunit SWAP70provided by HGNC Primary source HGNC:HGNC:17070 See related Ensembl:ENSG00000133789 MIM:604762; AllianceGenome:HGNC:17070 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 HSPC321; SWAP-70 Summary Enables cadherin binding activity. Predicted to be involved in regulation of actin polymerization or depolymerization. Predicted to act upstream of or within isotype switching. Located in actin cytoskeleton; cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 33.7), spleen (RPKM 30.6) and 24 other tissues See more Orthologs mouse all
SWI5, Official Symbol SWI5provided by HGNC Official Full Name SWI5 homologous recombination repair proteinprovided by HGNC Primary source HGNC:HGNC:31412 See related Ensembl:ENSG00000175854 MIM:616528; AllianceGenome:HGNC:31412 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 SAE3; C9orf119 Summary Involved in cellular response to ionizing radiation and double-strand break repair via homologous recombination. Part of Swi5-Sfr1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 16.4), thyroid (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
SWSAP1, Official Symbol SWSAP1provided by HGNC Official Full Name SWIM-type zinc finger 7 associated protein 1provided by HGNC Primary source HGNC:HGNC:26638 See related Ensembl:ENSG00000173928 MIM:614536; AllianceGenome:HGNC:26638 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 SWS1AP1; C19orf39; ZSWIM7AP1 Summary Enables single-stranded DNA binding activity. Involved in double-strand break repair via homologous recombination and protein stabilization. Part of Shu complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 1.9), testis (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
SWT1, Official Symbol SWT1provided by HGNC Official Full Name SWT1 RNA endoribonuclease homologprovided by HGNC Primary source HGNC:HGNC:16785 See related Ensembl:ENSG00000116668 MIM:619513; AllianceGenome:HGNC:16785 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 HsSwt1; C1orf26 Summary Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 13.8), bone marrow (RPKM 2.1) and 20 other tissues See more Orthologs mouse all
SYAP1, Official Symbol SYAP1provided by HGNC Official Full Name synapse associated protein 1provided by HGNC Primary source HGNC:HGNC:16273 See related Ensembl:ENSG00000169895 AllianceGenome:HGNC:16273 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 BSTA; PRO3113 Summary Involved in several processes, including TORC2 signaling; cellular response to growth factor stimulus; and cellular response to peptide hormone stimulus. Located in Golgi apparatus; cytosol; and nucleoplasm. Is extrinsic component of cytoplasmic side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 23.9), colon (RPKM 16.3) and 25 other tissues See more Orthologs mouse all
SYBU, Official Symbol SYBUprovided by HGNC Official Full Name syntabulinprovided by HGNC Primary source HGNC:HGNC:26011 See related Ensembl:ENSG00000147642 MIM:611568; AllianceGenome:HGNC:26011 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 OCSYN; SNPHL; GOLSYN Summary Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008] Expression Broad expression in brain (RPKM 10.5), fat (RPKM 7.9) and 21 other tissues See more Orthologs mouse all
SYCE1, Official Symbol SYCE1provided by HGNC Official Full Name synaptonemal complex central element protein 1provided by HGNC Primary source HGNC:HGNC:28852 See related Ensembl:ENSG00000171772 MIM:611486; AllianceGenome:HGNC:28852 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 CT76; POF12; SPGF15; C10orf94 Summary This gene encodes a member of the synaptonemal complex, which links homologous chromosomes during prophase I of meiosis. The tripartite structure of the complex is highly conserved amongst metazoans. It consists of two lateral elements and a central region formed by transverse elements and a central element. The protein encoded by this gene localizes to the central element and is required for initiation and elongation of the synapsis. Allelic variants of this gene have been associated with premature ovarian failure and spermatogenic failure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] Expression Biased expression in testis (RPKM 31.6), placenta (RPKM 4.3) and 1 other tissue See more Orthologs mouse all
SYCE1L, Official Symbol SYCE1Lprovided by HGNC Official Full Name synaptonemal complex central element protein 1 likeprovided by HGNC Primary source HGNC:HGNC:37236 See related Ensembl:ENSG00000205078 MIM:619954; AllianceGenome:HGNC:37236 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 MRP2 Summary Predicted to be involved in synaptonemal complex assembly. Located in intermediate filament cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 20.9), urinary bladder (RPKM 20.3) and 23 other tissues See more Orthologs mouse all
SYCE2, Official Symbol SYCE2provided by HGNC Official Full Name synaptonemal complex central element protein 2provided by HGNC Primary source HGNC:HGNC:27411 See related Ensembl:ENSG00000161860 MIM:611487; AllianceGenome:HGNC:27411 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 CESC1 Summary The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012] Expression Broad expression in testis (RPKM 7.5), liver (RPKM 2.0) and 18 other tissues See more Orthologs mouse all
SYCE3, Official Symbol SYCE3provided by HGNC Official Full Name synaptonemal complex central element protein 3provided by HGNC Primary source HGNC:HGNC:35245 See related Ensembl:ENSG00000217442 MIM:615775; AllianceGenome:HGNC:35245 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 THEG2; C22orf41 Summary Predicted to be involved in reciprocal meiotic recombination; spermatogenesis; and synaptonemal complex assembly. Predicted to act upstream of or within positive regulation of apoptotic process. Predicted to be located in chromosome and nucleus. Predicted to be active in central element. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 28.1) See more Orthologs mouse all
SYCN, Official Symbol SYCNprovided by HGNC Official Full Name syncollinprovided by HGNC Primary source HGNC:HGNC:18442 See related Ensembl:ENSG00000179751 MIM:620140; AllianceGenome:HGNC:18442 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 SYL; INSSA1 Summary Predicted to be involved in exocytosis. Predicted to be active in secretory granule membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward pancreas (RPKM 2575.3) See more Orthologs mouse all
SYCP1, Official Symbol SYCP1provided by HGNC Official Full Name synaptonemal complex protein 1provided by HGNC Primary source HGNC:HGNC:11487 See related Ensembl:ENSG00000198765 MIM:602162; AllianceGenome:HGNC:11487 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 CT8; SCP1; SCP-1; HOM-TES-14 Summary Enables double-stranded DNA binding activity. Involved in protein homotetramerization. Predicted to be located in synaptonemal complex. Predicted to be active in central element; male germ cell nucleus; and transverse filament. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 18.8) See more Orthologs mouse all
SYCP2, Official Symbol SYCP2provided by HGNC Official Full Name synaptonemal complex protein 2provided by HGNC Primary source HGNC:HGNC:11490 See related Ensembl:ENSG00000196074 MIM:604105; AllianceGenome:HGNC:11490 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 SCP2; SCP-2; SPGF1 Summary 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. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 17.7), stomach (RPKM 1.7) and 4 other tissues See more Orthologs mouse all
SYCP2L, Official Symbol SYCP2Lprovided by HGNC Official Full Name synaptonemal complex protein 2 likeprovided by HGNC Primary source HGNC:HGNC:21537 See related Ensembl:ENSG00000153157 MIM:616799; AllianceGenome:HGNC:21537 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 NO145; C6orf177; dJ62D2.1 Summary Predicted to be involved in meiotic nuclear division. Predicted to act upstream of or within negative regulation of cell death. Located in condensed chromosome, centromeric region and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 2.2), placenta (RPKM 0.6) and 16 other tissues See more Orthologs mouse all
SYCP3, Official Symbol SYCP3provided by HGNC Official Full Name synaptonemal complex protein 3provided by HGNC Primary source HGNC:HGNC:18130 See related Ensembl:ENSG00000139351 MIM:604759; AllianceGenome:HGNC:18130 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 COR1; SCP3; SPGF4; RPRGL4 Summary This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010] Expression Broad expression in testis (RPKM 35.2), duodenum (RPKM 4.0) and 14 other tissues See more Orthologs mouse all
SYDE1, Official Symbol SYDE1provided by HGNC Official Full Name synapse defective Rho GTPase homolog 1provided by HGNC Primary source HGNC:HGNC:25824 See related Ensembl:ENSG00000105137 MIM:617377; AllianceGenome:HGNC:25824 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 7h3; SYD1 Summary The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in fat (RPKM 9.3), placenta (RPKM 9.2) and 23 other tissues See more Orthologs mouse all
SYDE2, Official Symbol SYDE2provided by HGNC Official Full Name synapse defective Rho GTPase homolog 2provided by HGNC Primary source HGNC:HGNC:25841 See related Ensembl:ENSG00000097096 AllianceGenome:HGNC:25841 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 GTPase activator activity. Acts upstream of or within cell migration. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 2.4), placenta (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
SYF2, Official Symbol SYF2provided by HGNC Official Full Name SYF2 pre-mRNA splicing factorprovided by HGNC Primary source HGNC:HGNC:19824 See related Ensembl:ENSG00000117614 MIM:607090; AllianceGenome:HGNC:19824 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 P29; CBPIN; NTC31; fSAP29 Summary This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 39.9), ovary (RPKM 37.8) and 25 other tissues See more Orthologs mouse all
SYF2P1, Official Symbol SYF2P1provided by HGNC Official Full Name SYF2 pre-mRNA splicing factor pseudogene 1provided by HGNC Primary source HGNC:HGNC:19925 See related Ensembl:ENSG00000258350 AllianceGenome:HGNC:19925 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SYF2P; CBPINP
SYF2P2, Official Symbol SYF2P2provided by HGNC Official Full Name SYF2 pre-mRNA splicing factor pseudogene 2provided by HGNC Primary source HGNC:HGNC:38139 See related Ensembl:ENSG00000233148 AllianceGenome:HGNC:38139 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SYK, Official Symbol SYKprovided by HGNC Official Full Name spleen associated tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:11491 See related Ensembl:ENSG00000165025 MIM:600085; AllianceGenome:HGNC:11491 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 IMD82; p72-Syk Summary This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Expression Broad expression in lymph node (RPKM 32.4), appendix (RPKM 24.8) and 20 other tissues See more Orthologs mouse all
SYMPK, Official Symbol SYMPKprovided by HGNC Official Full Name symplekin scaffold proteinprovided by HGNC Primary source HGNC:HGNC:22935 See related Ensembl:ENSG00000125755 MIM:602388; AllianceGenome:HGNC:22935 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 SPK; SYM; Pta1 Summary This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 32.3), spleen (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
SYN1, Official Symbol SYN1provided by HGNC Official Full Name synapsin Iprovided by HGNC Primary source HGNC:HGNC:11494 See related Ensembl:ENSG00000008056 MIM:313440; AllianceGenome:HGNC:11494 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 SYNI; EPILX; MRX50; SYN1a; SYN1b; EPILX1 Summary This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 99.5) and adrenal (RPKM 5.6) See more Orthologs mouse all
SYN2, Official Symbol SYN2provided by HGNC Official Full Name synapsin IIprovided by HGNC Primary source HGNC:HGNC:11495 See related Ensembl:ENSG00000157152 MIM:600755; AllianceGenome:HGNC:11495 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 SYNII Summary This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014] Expression Biased expression in brain (RPKM 41.0) and fat (RPKM 5.3) See more Orthologs mouse all
SYN3, Official Symbol SYN3provided by HGNC Official Full Name synapsin IIIprovided by HGNC Primary source HGNC:HGNC:11496 See related Ensembl:ENSG00000185666 MIM:602705; AllianceGenome:HGNC:11496 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 Summary This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008] Expression Biased expression in brain (RPKM 2.3), testis (RPKM 0.7) and 6 other tissues See more Orthologs mouse all
SYN3-AS1, Official Symbol SYN3-AS1provided by HGNC Official Full Name SYN3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40569 See related AllianceGenome:HGNC:40569 Gene type ncRNA RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LL22NC03-104C7.1 Expression Low expression observed in reference dataset See more
SYNC, Official Symbol SYNCprovided by HGNC Official Full Name syncoilin, intermediate filament proteinprovided by HGNC Primary source HGNC:HGNC:28897 See related Ensembl:ENSG00000162520 MIM:611750; AllianceGenome:HGNC:28897 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 SYNC1; SYNCOILIN Summary This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009] Expression Ubiquitous expression in testis (RPKM 20.2), appendix (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
SYNCRIP, Official Symbol SYNCRIPprovided by HGNC Official Full Name synaptotagmin binding cytoplasmic RNA interacting proteinprovided by HGNC Primary source HGNC:HGNC:16918 See related Ensembl:ENSG00000135316 MIM:616686; AllianceGenome:HGNC:16918 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 PP68; NSAP1; GRYRBP; HNRNPQ; HNRPQ1; GRY-RBP; hnRNP-Q Summary This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in thyroid (RPKM 21.7), appendix (RPKM 18.1) and 25 other tissues See more Orthologs mouse all
SYNDIG1, Official Symbol SYNDIG1provided by HGNC Official Full Name synapse differentiation inducing 1provided by HGNC Primary source HGNC:HGNC:15885 See related Ensembl:ENSG00000101463 MIM:614311; AllianceGenome:HGNC:15885 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 DSPC2; IFITMD5; TMEM90B; C20orf39 Summary This gene encodes a protein that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013] Expression Biased expression in brain (RPKM 1.9), heart (RPKM 1.6) and 11 other tissues See more Orthologs mouse all
SYNDIG1L, Official Symbol SYNDIG1Lprovided by HGNC Official Full Name synapse differentiation inducing 1 likeprovided by HGNC Primary source HGNC:HGNC:32388 See related Ensembl:ENSG00000183379 MIM:609999; AllianceGenome:HGNC:32388 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 DSPC1; CAPUCIN; IFITMD4; SynDIG2; TMEM90A Summary Predicted to be located in Golgi apparatus. Predicted to be integral component of membrane. Predicted to be active in intracellular membrane-bounded organelle and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SYNE1, Official Symbol SYNE1provided by HGNC Official Full Name spectrin repeat containing nuclear envelope protein 1provided by HGNC Primary source HGNC:HGNC:17089 See related Ensembl:ENSG00000131018 MIM:608441; AllianceGenome:HGNC:17089 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 8B; AMC3; AMCM; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2 Summary This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 11.9), bone marrow (RPKM 8.2) and 24 other tissues See more Orthologs mouse all
SYNE2, Official Symbol SYNE2provided by HGNC Official Full Name spectrin repeat containing nuclear envelope protein 2provided by HGNC Primary source HGNC:HGNC:17084 See related Ensembl:ENSG00000054654 MIM:608442; AllianceGenome:HGNC:17084 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 NUA; EDMD5; KASH2; Nesp2; TROPH; NUANCE; SYNE-2; Nesprin-2 Summary The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in skin (RPKM 13.7), kidney (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
SYNE3, Official Symbol SYNE3provided by HGNC Official Full Name spectrin repeat containing nuclear envelope family member 3provided by HGNC Primary source HGNC:HGNC:19861 See related Ensembl:ENSG00000176438 MIM:610861; AllianceGenome:HGNC:19861 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 KASH3; NET53; Nesp3; C14orf49; C14orf139; LINC00341; NCRNA00341 Summary Enables actin filament binding activity and cytoskeleton-nuclear membrane anchor activity. Involved in cytoskeleton organization; establishment of protein localization to membrane; and regulation of cell shape. Located in nuclear membrane. Part of meiotic nuclear membrane microtubule tethering complex. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 4.3), bone marrow (RPKM 3.9) and 24 other tissues See more Orthologs mouse all
SYNE4, Official Symbol SYNE4provided by HGNC Official Full Name spectrin repeat containing nuclear envelope family member 4provided by HGNC Primary source HGNC:HGNC:26703 See related Ensembl:ENSG00000181392 MIM:615535; AllianceGenome:HGNC:26703 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 KASH4; Nesp4; DFNB76; C19orf46 Summary This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and a kinesin-1 binding region. This protein localizes to the outer nuclear membrane, and is part of the linker of nucleoskeleton and cytoskeleton (LINC) complex in the nuclear envelope. LINC complexes are formed by SUN (Sad1, UNC-84)-KASH pairs, and are thought to mechanically couple nuclear components to the cytoskeleton. Mutations in this gene have been associated with progressive high-frequency hearing loss. The absence of this protein in mice also caused hearing loss, and changes in hair cell morphology in the ears. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Expression Broad expression in prostate (RPKM 6.3), thyroid (RPKM 3.5) and 15 other tissues See more Orthologs mouse all
SYNGAP1, Official Symbol SYNGAP1provided by HGNC Official Full Name synaptic Ras GTPase activating protein 1provided by HGNC Primary source HGNC:HGNC:11497 See related Ensembl:ENSG00000197283 MIM:603384; AllianceGenome:HGNC:11497 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 MRD5; RASA1; RASA5; SYNGAP Summary This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] Expression Ubiquitous expression in brain (RPKM 17.6), ovary (RPKM 8.3) and 23 other tissues See more Orthologs mouse all
SYNGAP1-AS1, Official Symbol SYNGAP1-AS1provided by HGNC Official Full Name SYNGAP1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53831 See related Ensembl:ENSG00000274259 AllianceGenome:HGNC:53831 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 SYNGAP1-AS
SYNGR1, Official Symbol SYNGR1provided by HGNC Official Full Name synaptogyrin 1provided by HGNC Primary source HGNC:HGNC:11498 See related Ensembl:ENSG00000100321 MIM:603925; AllianceGenome:HGNC:11498 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 Summary This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 53.1), ovary (RPKM 17.1) and 11 other tissues See more Orthologs mouse all
SYNGR2, Official Symbol SYNGR2provided by HGNC Official Full Name synaptogyrin 2provided by HGNC Primary source HGNC:HGNC:11499 See related Ensembl:ENSG00000108639 MIM:603926; AllianceGenome:HGNC:11499 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 Summary This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in prostate (RPKM 65.0), lung (RPKM 62.5) and 25 other tissues See more Orthologs mouse all
SYNGR3, Official Symbol SYNGR3provided by HGNC Official Full Name synaptogyrin 3provided by HGNC Primary source HGNC:HGNC:11501 See related Ensembl:ENSG00000127561 MIM:603927; AllianceGenome:HGNC:11501 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 Summary This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010] Expression Biased expression in brain (RPKM 26.0), adrenal (RPKM 4.5) and 2 other tissues See more Orthologs mouse all
SYNGR4, Official Symbol SYNGR4provided by HGNC Official Full Name synaptogyrin 4provided by HGNC Primary source HGNC:HGNC:11502 See related Ensembl:ENSG00000105467 MIM:608373; AllianceGenome:HGNC:11502 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 Summary This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 8.9) See more Orthologs mouse all
SYNJ1, Official Symbol SYNJ1provided by HGNC Official Full Name synaptojanin 1provided by HGNC Primary source HGNC:HGNC:11503 See related Ensembl:ENSG00000159082 MIM:604297; AllianceGenome:HGNC:11503 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 DEE53; EIEE53; INPP5G; PARK20 Summary This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Broad expression in brain (RPKM 21.4), bone marrow (RPKM 6.6) and 22 other tissues See more Orthologs mouse all
SYNJ2, Official Symbol SYNJ2provided by HGNC Official Full Name synaptojanin 2provided by HGNC Primary source HGNC:HGNC:11504 See related Ensembl:ENSG00000078269 MIM:609410; AllianceGenome:HGNC:11504 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 INPP5H Summary The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Expression Ubiquitous expression in brain (RPKM 8.6), colon (RPKM 3.7) and 25 other tissues See more Orthologs mouse all