psui3905/ncbi_genes_summary huggingface dataset:
SMIM43, Official Symbol SMIM43provided by HGNC Official Full Name small integral membrane protein 43provided by HGNC Primary source HGNC:HGNC:55077 See related Ensembl:ENSG00000164112 AllianceGenome:HGNC:55077 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 TMEM155 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 10.6), placenta (RPKM 2.0) and 1 other tissue See more Orthologs mouse all
SMIM5, Official Symbol SMIM5provided by HGNC Official Full Name small integral membrane protein 5provided by HGNC Primary source HGNC:HGNC:40030 See related Ensembl:ENSG00000204323 AllianceGenome:HGNC:40030 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 PP12104; C17orf109 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in stomach (RPKM 3.8), kidney (RPKM 3.7) and 19 other tissues See more Orthologs mouse all
SMIM6, Official Symbol SMIM6provided by HGNC Official Full Name small integral membrane protein 6provided by HGNC Primary source HGNC:HGNC:40032 See related Ensembl:ENSG00000259120 AllianceGenome:HGNC:40032 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 ELN; C17orf110 Summary Predicted to act upstream of or within negative regulation of ATPase-coupled calcium transmembrane transporter activity and negative regulation of calcium ion binding activity. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in stomach (RPKM 5.0), testis (RPKM 3.1) and 8 other tissues See more Orthologs mouse all
SMIM7, Official Symbol SMIM7provided by HGNC Official Full Name small integral membrane protein 7provided by HGNC Primary source HGNC:HGNC:28419 See related Ensembl:ENSG00000214046 AllianceGenome:HGNC:28419 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 C19orf42 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 16.9), prostate (RPKM 16.3) and 25 other tissues See more Orthologs mouse all
SMIM8, Official Symbol SMIM8provided by HGNC Official Full Name small integral membrane protein 8provided by HGNC Primary source HGNC:HGNC:21401 See related Ensembl:ENSG00000111850 AllianceGenome:HGNC:21401 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 C6orf162; dJ102H19.2 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 4.3), endometrium (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
SMIM9, Official Symbol SMIM9provided by HGNC Official Full Name small integral membrane protein 9provided by HGNC Primary source HGNC:HGNC:41915 See related Ensembl:ENSG00000203870 AllianceGenome:HGNC:41915 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 CXorf68 Summary Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SMKR1, Official Symbol SMKR1provided by HGNC Official Full Name small lysine rich protein 1provided by HGNC Primary source HGNC:HGNC:43561 See related Ensembl:ENSG00000240204 AllianceGenome:HGNC:43561 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 Restricted expression toward testis (RPKM 44.7) See more Orthologs all
SMLR1, Official Symbol SMLR1provided by HGNC Official Full Name small leucine rich protein 1provided by HGNC Primary source HGNC:HGNC:44670 See related Ensembl:ENSG00000256162 AllianceGenome:HGNC:44670 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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 12.7), duodenum (RPKM 6.5) and 2 other tissues See more Orthologs mouse all
SMN1, Official Symbol SMN1provided by HGNC Official Full Name survival of motor neuron 1, telomericprovided by HGNC Primary source HGNC:HGNC:11117 See related Ensembl:ENSG00000172062 MIM:600354; AllianceGenome:HGNC:11117 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 SMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; GEMIN1; TDRD16A; T-BCD541 Summary This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in bone marrow (RPKM 24.8), testis (RPKM 21.9) and 25 other tissues See more Orthologs all
SMN2, Official Symbol SMN2provided by HGNC Official Full Name survival of motor neuron 2, centromericprovided by HGNC Primary source HGNC:HGNC:11118 See related Ensembl:ENSG00000205571 MIM:601627; AllianceGenome:HGNC:11118 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 SMNC; BCD541; GEMIN1; TDRD16B; C-BCD541 Summary This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] Expression Ubiquitous expression in bone marrow (RPKM 24.2), testis (RPKM 21.9) and 25 other tissues See more Orthologs all
SMNDC1, Official Symbol SMNDC1provided by HGNC Official Full Name survival motor neuron domain containing 1provided by HGNC Primary source HGNC:HGNC:16900 See related Ensembl:ENSG00000119953 MIM:603519; AllianceGenome:HGNC:16900 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 SMNR; SPF30; TDRD16C Summary This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 20.9), lymph node (RPKM 13.0) and 25 other tissues See more Orthologs mouse all
SMO, Official Symbol SMOprovided by HGNC Official Full Name smoothened, frizzled class receptorprovided by HGNC Primary source HGNC:HGNC:11119 See related Ensembl:ENSG00000128602 MIM:601500; AllianceGenome:HGNC:11119 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 Gx; CRJS; PHLS; SMOH; FZD11 Summary The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010] Expression Broad expression in ovary (RPKM 15.6), endometrium (RPKM 13.9) and 24 other tissues See more Orthologs mouse all
SMOC1, Official Symbol SMOC1provided by HGNC Official Full Name SPARC related modular calcium binding 1provided by HGNC Primary source HGNC:HGNC:20318 See related Ensembl:ENSG00000198732 MIM:608488; AllianceGenome:HGNC:20318 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 OAS Summary This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] Expression Biased expression in brain (RPKM 47.3), testis (RPKM 23.8) and 6 other tissues See more Orthologs mouse all
SMOC2, Official Symbol SMOC2provided by HGNC Official Full Name SPARC related modular calcium binding 2provided by HGNC Primary source HGNC:HGNC:20323 See related Ensembl:ENSG00000112562 MIM:607223; AllianceGenome:HGNC:20323 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 DTDP1; SMAP2; MST117; MSTP117; MSTP140; bA37D8.1; bA270C4A.1; dJ421D16.1 Summary This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Broad expression in endometrium (RPKM 68.7), gall bladder (RPKM 54.9) and 18 other tissues See more Orthologs mouse all
SMOX, Official Symbol SMOXprovided by HGNC Official Full Name spermine oxidaseprovided by HGNC Primary source HGNC:HGNC:15862 See related Ensembl:ENSG00000088826 MIM:615854; AllianceGenome:HGNC:15862 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 PAO; SMO; PAO1; PAOH; PAO-1; PAOH1; C20orf16 Summary Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in brain (RPKM 15.8), bone marrow (RPKM 10.0) and 25 other tissues See more Orthologs mouse all
SMPD1, Official Symbol SMPD1provided by HGNC Official Full Name sphingomyelin phosphodiesterase 1provided by HGNC Primary source HGNC:HGNC:11120 See related Ensembl:ENSG00000166311 MIM:607608; AllianceGenome:HGNC:11120 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 ASM; NPD; ASMASE Summary The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in kidney (RPKM 23.5), thyroid (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
SMPD2, Official Symbol SMPD2provided by HGNC Official Full Name sphingomyelin phosphodiesterase 2provided by HGNC Primary source HGNC:HGNC:11121 See related Ensembl:ENSG00000135587 MIM:603498; AllianceGenome:HGNC:11121 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 ISC1; NSMASE; NSMASE1 Summary This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009] Expression Broad expression in testis (RPKM 17.9), skin (RPKM 6.8) and 24 other tissues See more Orthologs mouse all
SMPD3, Official Symbol SMPD3provided by HGNC Official Full Name sphingomyelin phosphodiesterase 3provided by HGNC Primary source HGNC:HGNC:14240 See related Ensembl:ENSG00000103056 MIM:605777; AllianceGenome:HGNC:14240 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 NSMASE2 Summary Predicted to enable phosphatidic acid binding activity; phosphatidylserine binding activity; and sphingomyelin phosphodiesterase activity. Predicted to be involved in positive regulation of exosomal secretion and sphingomyelin metabolic process. Predicted to act upstream of or within several processes, including animal organ development; enzyme linked receptor protein signaling pathway; and sphingolipid metabolic process. Predicted to be located in Golgi apparatus and plasma membrane. Predicted to be active in cytoplasm. Biomarker of pulmonary emphysema. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 22.0), small intestine (RPKM 21.4) and 11 other tissues See more Orthologs mouse all
SMPD4, Official Symbol SMPD4provided by HGNC Official Full Name sphingomyelin phosphodiesterase 4provided by HGNC Primary source HGNC:HGNC:32949 See related Ensembl:ENSG00000136699 MIM:610457; AllianceGenome:HGNC:32949 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 SKNY; NET13; NEDMABA; NEDMEBA; NSMASE3; NSMASE-3 Summary The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in bone marrow (RPKM 16.4), testis (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
SMPD4BP, Official Symbol SMPD4BPprovided by HGNC Official Full Name sphingomyelin phosphodiesterase 4B, pseudogeneprovided by HGNC Primary source HGNC:HGNC:24761 See related Ensembl:ENSG00000152117 AllianceGenome:HGNC:24761 Gene type pseudo 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 bone marrow (RPKM 21.0), testis (RPKM 12.4) and 25 other tissues See more
SMPD4P1, Official Symbol SMPD4P1provided by HGNC Official Full Name sphingomyelin phosphodiesterase 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39673 See related Ensembl:ENSG00000223553 AllianceGenome:HGNC:39673 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SMPD4P2, Official Symbol SMPD4P2provided by HGNC Official Full Name sphingomyelin phosphodiesterase 4 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39674 See related Ensembl:ENSG00000229147 AllianceGenome:HGNC:39674 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SMPDL3A, Official Symbol SMPDL3Aprovided by HGNC Official Full Name sphingomyelin phosphodiesterase acid like 3Aprovided by HGNC Primary source HGNC:HGNC:17389 See related Ensembl:ENSG00000172594 MIM:610728; AllianceGenome:HGNC:17389 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 ASM3A; ASML3a; yR36GH4.1 Summary Enables phosphoric diester hydrolase activity and zinc ion binding activity. Involved in nucleoside triphosphate catabolic process. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 18.5), small intestine (RPKM 18.4) and 25 other tissues See more Orthologs mouse all
SMPDL3B, Official Symbol SMPDL3Bprovided by HGNC Official Full Name sphingomyelin phosphodiesterase acid like 3Bprovided by HGNC Primary source HGNC:HGNC:21416 See related Ensembl:ENSG00000130768 MIM:617737; AllianceGenome:HGNC:21416 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 ASML3B Summary Enables phosphoric diester hydrolase activity. Predicted to be involved in membrane lipid catabolic process; negative regulation of inflammatory response; and negative regulation of toll-like receptor signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 6.3), colon (RPKM 6.3) and 13 other tissues See more Orthologs mouse all
SMPX, Official Symbol SMPXprovided by HGNC Official Full Name small muscle protein X-linkedprovided by HGNC Primary source HGNC:HGNC:11122 See related Ensembl:ENSG00000091482 MIM:300226; AllianceGenome:HGNC:11122 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 Csl; DFN6; MPD7; DFNX4; Chisel Summary This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Restricted expression toward heart (RPKM 174.8) See more Orthologs mouse all
SMR3A, Official Symbol SMR3Aprovided by HGNC Official Full Name submaxillary gland androgen regulated protein 3Aprovided by HGNC Primary source HGNC:HGNC:19216 See related Ensembl:ENSG00000109208 MIM:618340; AllianceGenome:HGNC:19216 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 PBI; P-B1; PRL5; PROL5 Summary Predicted to enable endopeptidase inhibitor activity. Predicted to be involved in regulation of sensory perception of pain. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward salivary gland (RPKM 1417.1) See more Orthologs all
SMR3B, Official Symbol SMR3Bprovided by HGNC Official Full Name submaxillary gland androgen regulated protein 3Bprovided by HGNC Primary source HGNC:HGNC:17326 See related Ensembl:ENSG00000171201 MIM:611593; AllianceGenome:HGNC:17326 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 P-B; PBII; PRL3; PROL3; SMR1B Summary Predicted to enable endopeptidase inhibitor activity. Predicted to be involved in cellular response to lipopolysaccharide; negative regulation of peptidase activity; and regulation of sensory perception of pain. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward salivary gland (RPKM 36850.2) See more Orthologs all
SMS, Official Symbol SMSprovided by HGNC Official Full Name spermine synthaseprovided by HGNC Primary source HGNC:HGNC:11123 See related Ensembl:ENSG00000102172 MIM:300105; AllianceGenome:HGNC:11123 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 SRS; SpS; MRSR; SPMSY; MRXSSR Summary This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in prostate (RPKM 40.6), placenta (RPKM 32.9) and 24 other tissues See more Orthologs mouse all
SMTN, Official Symbol SMTNprovided by HGNC Official Full Name smoothelinprovided by HGNC Primary source HGNC:HGNC:11126 See related Ensembl:ENSG00000183963 MIM:602127; AllianceGenome:HGNC:11126 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 a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011] Expression Broad expression in prostate (RPKM 39.0), endometrium (RPKM 30.0) and 20 other tissues See more Orthologs mouse all
SMTNL1, Official Symbol SMTNL1provided by HGNC Official Full Name smoothelin like 1provided by HGNC Primary source HGNC:HGNC:32394 See related Ensembl:ENSG00000214872 MIM:613664; AllianceGenome:HGNC:32394 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 CHASM Summary The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [provided by RefSeq, Jul 2016] Expression Biased expression in esophagus (RPKM 3.0), prostate (RPKM 1.5) and 7 other tissues See more Orthologs mouse all
SMTNL2, Official Symbol SMTNL2provided by HGNC Official Full Name smoothelin like 2provided by HGNC Primary source HGNC:HGNC:24764 See related Ensembl:ENSG00000188176 AllianceGenome:HGNC:24764 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 protein phosphatase 1 binding activity and tropomyosin binding activity. Predicted to be involved in actin cytoskeleton organization and positive regulation of vasoconstriction. Predicted to be part of filamentous actin. Predicted to be active in I band; M band; and microtubule organizing center. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 11.1), prostate (RPKM 2.3) and 8 other tissues See more Orthologs mouse all
SMU1, Official Symbol SMU1provided by HGNC Official Full Name SMU1 DNA replication regulator and spliceosomal factorprovided by HGNC Primary source HGNC:HGNC:18247 See related Ensembl:ENSG00000122692 MIM:617811; AllianceGenome:HGNC:18247 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 BWD; SMU-1; fSAP57 Summary Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.9), thyroid (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
SMUG1, Official Symbol SMUG1provided by HGNC Official Full Name single-strand-selective monofunctional uracil-DNA glycosylase 1provided by HGNC Primary source HGNC:HGNC:17148 See related Ensembl:ENSG00000123415 MIM:607753; AllianceGenome:HGNC:17148 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 FDG; UNG3; HMUDG Summary This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in skin (RPKM 3.7), placenta (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
SMUG1P1, Official Symbol SMUG1P1provided by HGNC Official Full Name single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49401 See related Ensembl:ENSG00000267444 AllianceGenome:HGNC:49401 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SMURF1, Official Symbol SMURF1provided by HGNC Official Full Name SMAD specific E3 ubiquitin protein ligase 1provided by HGNC Primary source HGNC:HGNC:16807 See related Ensembl:ENSG00000198742 MIM:605568; AllianceGenome:HGNC:16807 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 a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010] Expression Ubiquitous expression in testis (RPKM 21.9), stomach (RPKM 11.7) and 25 other tissues See more Orthologs mouse all
SMURF2, Official Symbol SMURF2provided by HGNC Official Full Name SMAD specific E3 ubiquitin protein ligase 2provided by HGNC Primary source HGNC:HGNC:16809 See related Ensembl:ENSG00000108854 MIM:605532; AllianceGenome:HGNC:16809 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 SMAD binding activity; identical protein binding activity; and ubiquitin-protein transferase activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of trophoblast cell migration; and ubiquitin-dependent SMAD protein catabolic process. Located in nuclear speck. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 7.9), testis (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
SMURF2P1, Official Symbol SMURF2P1provided by HGNC Official Full Name SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44402 See related AllianceGenome:HGNC:44402 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SMYD1, Official Symbol SMYD1provided by HGNC Official Full Name SET and MYND domain containing 1provided by HGNC Primary source HGNC:HGNC:20986 See related Ensembl:ENSG00000115593 MIM:606846; AllianceGenome:HGNC:20986 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 BOP; KMT3D; ZMYND18; ZMYND22 Summary Predicted to enable histone-lysine N-methyltransferase activity. Involved in positive regulation of myoblast differentiation and positive regulation of myotube differentiation. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward heart (RPKM 63.9) See more Orthologs mouse all
SMYD2, Official Symbol SMYD2provided by HGNC Official Full Name SET and MYND domain containing 2provided by HGNC Primary source HGNC:HGNC:20982 See related Ensembl:ENSG00000143499 MIM:610663; AllianceGenome:HGNC:20982 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 KMT3C; HSKM-B; ZMYND14 Summary SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008] Expression Broad expression in heart (RPKM 86.3), testis (RPKM 19.8) and 22 other tissues See more Orthologs mouse all
SMYD3, Official Symbol SMYD3provided by HGNC Official Full Name SET and MYND domain containing 3provided by HGNC Primary source HGNC:HGNC:15513 See related Ensembl:ENSG00000185420 MIM:608783; AllianceGenome:HGNC:15513 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 KMT3E; ZMYND1; ZNFN3A1; bA74P14.1 Summary This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in thyroid (RPKM 1.8), brain (RPKM 1.2) and 25 other tissues See more Orthologs mouse all
SMYD3-AS1, Official Symbol SMYD3-AS1provided by HGNC Official Full Name SMYD3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40708 See related Ensembl:ENSG00000226876 AllianceGenome:HGNC:40708 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
SMYD3-IT1, Official Symbol SMYD3-IT1provided by HGNC Official Full Name SMYD3 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41406 See related AllianceGenome:HGNC:41406 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
SMYD4, Official Symbol SMYD4provided by HGNC Official Full Name SET and MYND domain containing 4provided by HGNC Primary source HGNC:HGNC:21067 See related Ensembl:ENSG00000186532 MIM:619134; AllianceGenome:HGNC:21067 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 ZMYND21 Summary Predicted to enable metal ion binding activity and methyltransferase activity. Involved in heart development. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 3.5), fat (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
SMYD5, Official Symbol SMYD5provided by HGNC Official Full Name SMYD family member 5provided by HGNC Primary source HGNC:HGNC:16258 See related Ensembl:ENSG00000135632 MIM:619114; AllianceGenome:HGNC:16258 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 RRG1; RAI15; NN8-4AG; ZMYND23 Summary Predicted to enable histone methyltransferase activity (H4-K20 specific). Involved in negative regulation of transposition and regulation of stem cell differentiation. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 8.4), testis (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
SNAI1, Official Symbol SNAI1provided by HGNC Official Full Name snail family transcriptional repressor 1provided by HGNC Primary source HGNC:HGNC:11128 See related Ensembl:ENSG00000124216 MIM:604238; AllianceGenome:HGNC:11128 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 SNA; SNAH; SNAIL; SLUGH2; SNAIL1; dJ710H13.1 Summary The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008] Expression Broad expression in gall bladder (RPKM 10.2), thyroid (RPKM 5.1) and 21 other tissues See more Orthologs mouse all
SNAI2, Official Symbol SNAI2provided by HGNC Official Full Name snail family transcriptional repressor 2provided by HGNC Primary source HGNC:HGNC:11094 See related Ensembl:ENSG00000019549 MIM:602150; AllianceGenome:HGNC:11094 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 SLUG; WS2D; SLUGH; SLUGH1; SNAIL2 Summary This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 22.8), ovary (RPKM 21.9) and 22 other tissues See more Orthologs mouse all
SNAI3, Official Symbol SNAI3provided by HGNC Official Full Name snail family transcriptional repressor 3provided by HGNC Primary source HGNC:HGNC:18411 See related Ensembl:ENSG00000185669 MIM:612741; AllianceGenome:HGNC:18411 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 SMUC; SNAIL3; ZNF293; Zfp293 Summary SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM, Apr 2009] Expression Broad expression in lymph node (RPKM 1.8), spleen (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
SNAI3-AS1, Official Symbol SNAI3-AS1provided by HGNC Official Full Name SNAI3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:28327 See related Ensembl:ENSG00000260630 AllianceGenome:HGNC:28327 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 brain (RPKM 1.7), testis (RPKM 1.0) and 24 other tissues See more
SNAP23, Official Symbol SNAP23provided by HGNC Official Full Name synaptosome associated protein 23provided by HGNC Primary source HGNC:HGNC:11131 See related Ensembl:ENSG00000092531 MIM:602534; AllianceGenome:HGNC:11131 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 SNAP-23; SNAP23A; SNAP23B; HsT17016 Summary Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 25.6), appendix (RPKM 23.5) and 25 other tissues See more Orthologs mouse all
SNAP23P1, Official Symbol SNAP23P1provided by HGNC Official Full Name synaptosome associated protein 23 pseudogene 1provided by HGNC Primary source HGNC:HGNC:16561 See related Ensembl:ENSG00000230758 AllianceGenome:HGNC:16561 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 SNAP23P; dJ155G6.3
SNAP25, Official Symbol SNAP25provided by HGNC Official Full Name synaptosome associated protein 25provided by HGNC Primary source HGNC:HGNC:11132 See related Ensembl:ENSG00000132639 MIM:600322; AllianceGenome:HGNC:11132 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 SUP; RIC4; SEC9; SNAP; CMS18; RIC-4; SNAP-25; bA416N4.2; dJ1068F16.2 Summary Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward brain (RPKM 418.5) See more Orthologs mouse all
SNAP25-AS1, Official Symbol SNAP25-AS1provided by HGNC Official Full Name SNAP25 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44312 See related Ensembl:ENSG00000227906 AllianceGenome:HGNC:44312 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 brain (RPKM 1.6), adrenal (RPKM 0.3) and 2 other tissues See more