psui3905/ncbi_genes_summary huggingface dataset:
SEL1L, Official Symbol SEL1Lprovided by HGNC Official Full Name SEL1L adaptor subunit of SYVN1 ubiquitin ligaseprovided by HGNC Primary source HGNC:HGNC:10717 See related Ensembl:ENSG00000071537 MIM:602329; AllianceGenome:HGNC:10717 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 Hrd3; SEL1L1; PRO1063; SEL1-LIKE Summary The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in pancreas (RPKM 48.9), thyroid (RPKM 38.9) and 25 other tissues See more Orthologs mouse all
SEL1L2, Official Symbol SEL1L2provided by HGNC Official Full Name SEL1L2 adaptor subunit of SYVN1 ubiquitin ligaseprovided by HGNC Primary source HGNC:HGNC:15897 See related Ensembl:ENSG00000101251 MIM:614289; AllianceGenome:HGNC:15897 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 sel-1L2; C20orf50 Summary Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in ubiquitin-dependent ERAD pathway. Predicted to be integral component of membrane. Predicted to be part of Hrd1p ubiquitin ligase ERAD-L complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 3.8) See more Orthologs mouse all
SEL1L3, Official Symbol SEL1L3provided by HGNC Official Full Name SEL1L family member 3provided by HGNC Primary source HGNC:HGNC:29108 See related Ensembl:ENSG00000091490 MIM:619914; AllianceGenome:HGNC:29108 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 Sel-1L3 Summary Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 28.3), stomach (RPKM 23.4) and 20 other tissues See more Orthologs mouse all
SELE, Official Symbol SELEprovided by HGNC Official Full Name selectin Eprovided by HGNC Primary source HGNC:HGNC:10718 See related Ensembl:ENSG00000007908 MIM:131210; AllianceGenome:HGNC:10718 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 ELAM; ESEL; CD62E; ELAM1; LECAM2; selectin-e Summary The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008] Expression Biased expression in prostate (RPKM 16.5), urinary bladder (RPKM 15.5) and 12 other tissues See more Orthologs mouse all
SELENBP1, Official Symbol SELENBP1provided by HGNC Official Full Name selenium binding protein 1provided by HGNC Primary source HGNC:HGNC:10719 See related Ensembl:ENSG00000143416 MIM:604188; AllianceGenome:HGNC:10719 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 MTO; LPSB; SP56; hSBP; EHMTO; SBP56; HEL-S-134P Summary This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012] Expression Broad expression in colon (RPKM 232.0), lung (RPKM 124.7) and 17 other tissues See more Orthologs all
SELENOF, Official Symbol SELENOFprovided by HGNC Official Full Name selenoprotein Fprovided by HGNC Primary source HGNC:HGNC:17705 See related Ensembl:ENSG00000183291 MIM:606254; AllianceGenome:HGNC:17705 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 SEP15 Summary The protein encoded by this gene belongs to the SEP15/selenoprotein M family. The exact function of this protein is not known; however, it has been found to associate with UDP-glucose:glycoprotein glucosyltransferase (UGTR), an endoplasmic reticulum(ER)-resident protein, which is involved in the quality control of protein folding. The association with UGTR retains this protein in the ER, where it may play a role in protein folding. It has also been suggested to have a role in cancer etiology. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2016] Expression Ubiquitous expression in thyroid (RPKM 119.6), urinary bladder (RPKM 69.9) and 25 other tissues See more Orthologs mouse all
SELENOH, Official Symbol SELENOHprovided by HGNC Official Full Name selenoprotein Hprovided by HGNC Primary source HGNC:HGNC:18251 See related Ensembl:ENSG00000211450 MIM:607914; AllianceGenome:HGNC:18251 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 SELH; C11orf31; C17orf10 Summary This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016] Expression Ubiquitous expression in adrenal (RPKM 17.7), spleen (RPKM 16.5) and 25 other tissues See more Orthologs mouse all
SELENOI, Official Symbol SELENOIprovided by HGNC Official Full Name selenoprotein Iprovided by HGNC Primary source HGNC:HGNC:29361 See related Ensembl:ENSG00000138018 MIM:607915; AllianceGenome:HGNC:29361 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 EPT1; SELI; SEPI; SPG81 Summary The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in brain (RPKM 12.3), small intestine (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
SELENOK, Official Symbol SELENOKprovided by HGNC Official Full Name selenoprotein Kprovided by HGNC Primary source HGNC:HGNC:30394 See related Ensembl:ENSG00000113811 MIM:607916; AllianceGenome:HGNC:30394 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 SELK; HSPC030; HSPC297 Summary The protein encoded by this gene belongs to the selenoprotein K family. It is a transmembrane protein that is localized in the endoplasmic reticulum (ER), and is involved in ER-associated degradation (ERAD) of misfolded, glycosylated proteins. It also has a role in the protection of cells from ER stress-induced apoptosis. Knockout studies in mice show the importance of this gene in promoting Ca(2+) flux in immune cells and mounting effective immune response. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Pseudogenes of this locus have been identified on chromosomes 6 and 19.[provided by RefSeq, Aug 2017] Expression Ubiquitous expression in adrenal (RPKM 48.3), thyroid (RPKM 43.1) and 25 other tissues See more Orthologs mouse all
SELENOM, Official Symbol SELENOMprovided by HGNC Official Full Name selenoprotein Mprovided by HGNC Primary source HGNC:HGNC:30397 See related Ensembl:ENSG00000198832 MIM:610918; AllianceGenome:HGNC:30397 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 SELM; SEPM Summary The protein encoded by this gene belongs to the selenoprotein M/SEP15 family. The exact function of this protein is not known. It is localized in the perinuclear region, is highly expressed in the brain, and may be involved in neurodegenerative disorders. Transgenic mice with targeted deletion of this gene exhibit increased weight gain, suggesting a role for this gene in the regulation of body weight and energy metabolism. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in prostate (RPKM 54.6), endometrium (RPKM 49.8) and 23 other tissues See more Orthologs mouse all
SELENON, Official Symbol SELENONprovided by HGNC Official Full Name selenoprotein Nprovided by HGNC Primary source HGNC:HGNC:15999 See related Ensembl:ENSG00000162430 MIM:606210; AllianceGenome:HGNC:15999 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 RSS; CFTD; SELN; CMYP3; MDRS1; RSMD1; SEPN1 Summary This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in prostate (RPKM 28.6), lung (RPKM 27.8) and 25 other tissues See more Orthologs mouse all
SELENOO, Official Symbol SELENOOprovided by HGNC Official Full Name selenoprotein Oprovided by HGNC Primary source HGNC:HGNC:30395 See related Ensembl:ENSG00000073169 MIM:607917; AllianceGenome:HGNC:30395 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 SELO Summary This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in bone marrow (RPKM 10.3), liver (RPKM 10.3) and 25 other tissues See more Orthologs mouse all
SELENOP, Official Symbol SELENOPprovided by HGNC Official Full Name selenoprotein Pprovided by HGNC Primary source HGNC:HGNC:10751 See related Ensembl:ENSG00000250722 MIM:601484; AllianceGenome:HGNC:10751 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 SeP; SELP; SEPP; SEPP1 Summary This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in human), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. The use of alternative polyadenylation sites, one located in between the two SECIS elements, results in two populations of mRNAs containing either both (predominant) or just the upstream SECIS element (PMID:27881738). Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Oct 2018] Expression Broad expression in liver (RPKM 1192.8), small intestine (RPKM 1057.6) and 22 other tissues See more Orthologs mouse all
SELENOS, Official Symbol SELENOSprovided by HGNC Official Full Name selenoprotein Sprovided by HGNC Primary source HGNC:HGNC:30396 See related Ensembl:ENSG00000131871 MIM:607918; AllianceGenome:HGNC:30396 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 SELS; VIMP; ADO15; SBBI8; SEPS1; AD-015 Summary This gene encodes a transmembrane protein that is localized in the endoplasmic reticulum (ER). It is involved in the degradation process of misfolded proteins in the ER, and may also have a role in inflammation control. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Two additional phylogenetically conserved stem-loop structures (Stem-loop 1 and Stem-loop 2) in the 3' UTR of this mRNA have been shown to function as modulators of Sec insertion. An alternatively spliced transcript variant, lacking the SECIS element and encoding a non-Sec containing shorter isoform, has been described for this gene (PMID:23614019). [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in testis (RPKM 27.4), colon (RPKM 26.5) and 25 other tissues See more Orthologs mouse all
SELENOT, Official Symbol SELENOTprovided by HGNC Official Full Name selenoprotein Tprovided by HGNC Primary source HGNC:HGNC:18136 See related Ensembl:ENSG00000198843 MIM:607912; AllianceGenome:HGNC:18136 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 SELT Summary This gene encodes a selenoprotein, containing a selenocysteine (Sec) residue at the active site. Sec is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is localized in the endoplasmic reticulum. It belongs to the SelWTH family that possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif found in several redox active proteins. Studies in mice indicate a crucial role for this gene in the protection of dopaminergic neurons against oxidative stress in Parkinson's disease, and in the control of glucose homeostasis in pancreatic beta-cells. Pseudogenes of this locus have been identified on chromosomes 9 and 5. [provided by RefSeq, Sep 2017] Expression Ubiquitous expression in brain (RPKM 31.9), adrenal (RPKM 30.5) and 25 other tissues See more Orthologs mouse all
SELENOTP1, Official Symbol SELENOTP1provided by HGNC Official Full Name selenoprotein T pseudogene 1provided by HGNC Primary source HGNC:HGNC:53722 See related AllianceGenome:HGNC:53722 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SELENOTP2, Official Symbol SELENOTP2provided by HGNC Official Full Name selenoprotein T pseudogene 2provided by HGNC Primary source HGNC:HGNC:53723 See related Ensembl:ENSG00000271585 AllianceGenome:HGNC:53723 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SELENOV, Official Symbol SELENOVprovided by HGNC Official Full Name selenoprotein Vprovided by HGNC Primary source HGNC:HGNC:30399 See related Ensembl:ENSG00000186838 MIM:607919; AllianceGenome:HGNC:30399 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 SELV Summary This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is specifically expressed in the testis. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2017] Expression Restricted expression toward testis (RPKM 2.7) See more Orthologs mouse all
SELENOW, Official Symbol SELENOWprovided by HGNC Official Full Name selenoprotein Wprovided by HGNC Primary source HGNC:HGNC:10752 See related Ensembl:ENSG00000178980 MIM:603235; AllianceGenome:HGNC:10752 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 selW; SEPW1 Summary This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is highly expressed in skeletal muscle, heart and brain. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Studies in mouse show that this selenoprotein is involved in muscle growth and differentiation, and in the protection of neurons from oxidative stress during neuronal development. A retroprocessed pseudogene of this locus has been identified on chromosome 1. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in heart (RPKM 246.5), brain (RPKM 150.5) and 23 other tissues See more Orthologs mouse all
SELL, Official Symbol SELLprovided by HGNC Official Full Name selectin Lprovided by HGNC Primary source HGNC:HGNC:10720 See related Ensembl:ENSG00000188404 MIM:153240; AllianceGenome:HGNC:10720 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 TQ1; LAM1; LEU8; LNHR; LSEL; CD62L; LYAM1; PLNHR; LECAM1 Summary This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009] Expression Biased expression in lymph node (RPKM 120.3), spleen (RPKM 87.6) and 5 other tissues See more Orthologs mouse all
SELP, Official Symbol SELPprovided by HGNC Official Full Name selectin Pprovided by HGNC Primary source HGNC:HGNC:10721 See related Ensembl:ENSG00000174175 MIM:173610; AllianceGenome:HGNC:10721 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 CD62; GRMP; PSEL; CD62P; GMP140; LECAM3; PADGEM Summary This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008] Expression Broad expression in urinary bladder (RPKM 9.3), appendix (RPKM 7.3) and 20 other tissues See more Orthologs mouse all
SELPLG, Official Symbol SELPLGprovided by HGNC Official Full Name selectin P ligandprovided by HGNC Primary source HGNC:HGNC:10722 See related Ensembl:ENSG00000110876 MIM:600738; AllianceGenome:HGNC:10722 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 CLA; CD162; PSGL1; PSGL-1 Summary This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011] Expression Broad expression in spleen (RPKM 29.0), lymph node (RPKM 26.4) and 22 other tissues See more Orthologs mouse all
SEM1, Official Symbol SEM1provided by HGNC Official Full Name SEM1 26S proteasome subunitprovided by HGNC Primary source HGNC:HGNC:10845 See related Ensembl:ENSG00000127922 MIM:601285; AllianceGenome:HGNC:10845 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 ECD; DSS1; SHFD1; SHFM1; SHSF1; PSMD15; Shfdg1; C7orf76 Summary The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 89.9), colon (RPKM 83.9) and 25 other tissues See more Orthologs mouse all
SEM1P1, Official Symbol SEM1P1provided by HGNC Official Full Name SEM1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:24454 See related AllianceGenome:HGNC:24454 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 DSS1P1; SHFM1P; SHFM1P1
SEMA3A, Official Symbol SEMA3Aprovided by HGNC Official Full Name semaphorin 3Aprovided by HGNC Primary source HGNC:HGNC:10723 See related Ensembl:ENSG00000075213 MIM:603961; AllianceGenome:HGNC:10723 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 HH16; SemD; COLL1; SEMA1; SEMAD; SEMAL; coll-1; Hsema-I; SEMAIII; Hsema-III Summary This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 2.5), gall bladder (RPKM 2.0) and 19 other tissues See more Orthologs mouse all
SEMA3B, Official Symbol SEMA3Bprovided by HGNC Official Full Name semaphorin 3Bprovided by HGNC Primary source HGNC:HGNC:10724 See related Ensembl:ENSG00000012171 MIM:601281; AllianceGenome:HGNC:10724 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 SemA; SEMA5; SEMAA; semaV; LUCA-1 Summary The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Broad expression in placenta (RPKM 31.6), small intestine (RPKM 29.6) and 20 other tissues See more Orthologs mouse all
SEMA3C, Official Symbol SEMA3Cprovided by HGNC Official Full Name semaphorin 3Cprovided by HGNC Primary source HGNC:HGNC:10725 See related Ensembl:ENSG00000075223 MIM:602645; AllianceGenome:HGNC:10725 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 SemE; SEMAE Summary This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017] Expression Broad expression in prostate (RPKM 41.1), urinary bladder (RPKM 40.3) and 20 other tissues See more Orthologs mouse all
SEMA3D, Official Symbol SEMA3Dprovided by HGNC Official Full Name semaphorin 3Dprovided by HGNC Primary source HGNC:HGNC:10726 See related Ensembl:ENSG00000153993 MIM:609907; AllianceGenome:HGNC:10726 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 coll-2; Sema-Z2 Summary This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016] Expression Biased expression in spleen (RPKM 23.4), thyroid (RPKM 18.9) and 13 other tissues See more Orthologs mouse all
SEMA3E, Official Symbol SEMA3Eprovided by HGNC Official Full Name semaphorin 3Eprovided by HGNC Primary source HGNC:HGNC:10727 See related Ensembl:ENSG00000170381 MIM:608166; AllianceGenome:HGNC:10727 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 SEMAH; coll-5; M-SEMAH; M-SemaK Summary Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] Expression Biased expression in brain (RPKM 3.1), gall bladder (RPKM 2.2) and 13 other tissues See more Orthologs mouse all
SEMA3F, Official Symbol SEMA3Fprovided by HGNC Official Full Name semaphorin 3Fprovided by HGNC Primary source HGNC:HGNC:10728 See related Ensembl:ENSG00000001617 MIM:601124; AllianceGenome:HGNC:10728 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 SEMA4; SEMAK; SEMA-IV Summary This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Expression Broad expression in skin (RPKM 21.7), esophagus (RPKM 16.4) and 19 other tissues See more Orthologs mouse all
SEMA3F-AS1, Official Symbol SEMA3F-AS1provided by HGNC Official Full Name SEMA3F antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40518 See related Ensembl:ENSG00000235016 AllianceGenome:HGNC:40518 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 RBM5-AS1 Expression Ubiquitous expression in bone marrow (RPKM 9.8), skin (RPKM 7.3) and 25 other tissues See more
SEMA3G, Official Symbol SEMA3Gprovided by HGNC Official Full Name semaphorin 3Gprovided by HGNC Primary source HGNC:HGNC:30400 See related Ensembl:ENSG00000010319 AllianceGenome:HGNC:30400 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 sem2 Summary The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016] Expression Biased expression in fat (RPKM 51.5), placenta (RPKM 13.3) and 10 other tissues See more Orthologs mouse all
SEMA4A, Official Symbol SEMA4Aprovided by HGNC Official Full Name semaphorin 4Aprovided by HGNC Primary source HGNC:HGNC:10729 See related Ensembl:ENSG00000196189 MIM:607292; AllianceGenome:HGNC:10729 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 RP35; SEMB; SEMAB; CORD10 Summary This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] Expression Broad expression in skin (RPKM 12.9), lymph node (RPKM 12.8) and 20 other tissues See more Orthologs mouse all
SEMA4B, Official Symbol SEMA4Bprovided by HGNC Official Full Name semaphorin 4Bprovided by HGNC Primary source HGNC:HGNC:10730 See related Ensembl:ENSG00000185033 MIM:617029; AllianceGenome:HGNC:10730 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 SemC; SEMAC Summary Predicted to enable chemorepellent activity and semaphorin receptor binding activity. Predicted to be involved in several processes, including generation of neurons; neural crest cell migration; and semaphorin-plexin signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in extracellular space. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 24.0), skin (RPKM 20.0) and 25 other tissues See more Orthologs mouse all
SEMA4C, Official Symbol SEMA4Cprovided by HGNC Official Full Name semaphorin 4Cprovided by HGNC Primary source HGNC:HGNC:10731 See related Ensembl:ENSG00000168758 MIM:604462; AllianceGenome:HGNC:10731 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 SEMAF; SEMAI; SEMACL1; M-SEMA-F Summary Predicted to enable chemorepellent activity and semaphorin receptor binding activity. Involved in muscle cell differentiation and positive regulation of stress-activated MAPK cascade. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 20.2), endometrium (RPKM 13.1) and 24 other tissues See more Orthologs mouse all
SEMA4D, Official Symbol SEMA4Dprovided by HGNC Official Full Name semaphorin 4Dprovided by HGNC Primary source HGNC:HGNC:10732 See related Ensembl:ENSG00000187764 MIM:601866; AllianceGenome:HGNC:10732 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 A8; GR3; BB18; CD100; COLL4; SEMAJ; coll-4; C9orf164; M-sema-G Summary Enables identical protein binding activity; semaphorin receptor binding activity; and transmembrane signaling receptor activity. Involved in several processes, including positive regulation of phosphatidylinositol 3-kinase signaling; regulation of neuron projection development; and regulation of phosphate metabolic process. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 12.0), appendix (RPKM 8.6) and 22 other tissues See more Orthologs mouse all
SEMA4F, Official Symbol SEMA4Fprovided by HGNC Official Full Name ssemaphorin 4Fprovided by HGNC Primary source HGNC:HGNC:10734 See related Ensembl:ENSG00000135622 MIM:603706; AllianceGenome:HGNC:10734 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 S4F; SEMAM; SEMAW; M-SEMA; PRO2353; m-Sema-M Summary This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] Expression Broad expression in brain (RPKM 2.1), testis (RPKM 1.1) and 22 other tissues See more Orthologs mouse all
SEMA4G, Official Symbol SEMA4Gprovided by HGNC Official Full Name semaphorin 4Gprovided by HGNC Primary source HGNC:HGNC:10735 See related Ensembl:ENSG00000095539 MIM:618991; AllianceGenome:HGNC:10735 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 Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] Expression Broad expression in duodenum (RPKM 18.5), small intestine (RPKM 15.9) and 20 other tissues See more Orthologs mouse all
SEMA5A, Official Symbol SEMA5Aprovided by HGNC Official Full Name semaphorin 5Aprovided by HGNC Primary source HGNC:HGNC:10736 See related Ensembl:ENSG00000112902 MIM:609297; AllianceGenome:HGNC:10736 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 semF; SEMAF Summary This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010] Expression Broad expression in lung (RPKM 6.9), kidney (RPKM 6.5) and 24 other tissues See more Orthologs mouse all
SEMA5A-AS1, Official Symbol SEMA5A-AS1provided by HGNC Official Full Name SEMA5A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:52973 See related Ensembl:ENSG00000251370 AllianceGenome:HGNC:52973 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 CTD-2201E9.1 Expression Low expression observed in reference dataset See more
SEMA5B, Official Symbol SEMA5Bprovided by HGNC Official Full Name semaphorin 5Bprovided by HGNC Primary source HGNC:HGNC:10737 See related Ensembl:ENSG00000082684 MIM:609298; AllianceGenome:HGNC:10737 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 SemG; SEMAG Summary This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in brain (RPKM 2.8), heart (RPKM 1.3) and 16 other tissues See more Orthologs mouse all
SEMA6A, Official Symbol SEMA6Aprovided by HGNC Official Full Name semaphorin 6Aprovided by HGNC Primary source HGNC:HGNC:10738 See related Ensembl:ENSG00000092421 MIM:605885; AllianceGenome:HGNC:10738 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 VIA; SEMA; HT018; SEMAQ; SEMA6A1 Summary Predicted to enable identical protein binding activity; signaling receptor binding activity; and transmembrane signaling receptor activity. Involved in cellular response to vascular endothelial growth factor stimulus; negative regulation of cell adhesion involved in sprouting angiogenesis; and negative regulation of signal transduction. Predicted to be integral component of membrane. Predicted to be active in extracellular space. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in adrenal (RPKM 13.5), placenta (RPKM 11.0) and 24 other tissues See more Orthologs mouse all