psui3905/ncbi_genes_summary huggingface dataset:
SCGB3A2, Official Symbol SCGB3A2provided by HGNC Official Full Name secretoglobin family 3A member 2provided by HGNC Primary source HGNC:HGNC:18391 See related Ensembl:ENSG00000164265 MIM:606531; AllianceGenome:HGNC:18391 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 LU103; PNSP1; UGRP1; pnSP-1 Summary The protein encoded by this gene is a secreted lung surfactant protein and a downstream target of thyroid transcription factor. A single nucleotide polymorphism in the promoter of this gene results in susceptibility to asthma.[provided by RefSeq, Mar 2010] Expression Restricted expression toward lung (RPKM 220.9) See more Orthologs mouse all
SCGN, Official Symbol SCGNprovided by HGNC Official Full Name secretagogin, EF-hand calcium binding proteinprovided by HGNC Primary source HGNC:HGNC:16941 See related Ensembl:ENSG00000079689 MIM:609202; AllianceGenome:HGNC:16941 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 SEGN; CALBL; SECRET; setagin; DJ501N12.8 Summary The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 11.2), colon (RPKM 8.7) and 8 other tissues See more Orthologs mouse all
SCHIP1, Official Symbol SCHIP1provided by HGNC Official Full Name schwannomin interacting protein 1provided by HGNC Primary source HGNC:HGNC:15678 See related Ensembl:ENSG00000151967 MIM:619206; AllianceGenome:HGNC:15678 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 SCHIP-1 Summary Enables identical protein binding activity. Predicted to be involved in positive regulation of hippo signaling. Predicted to act upstream of or within several processes, including animal organ development; face morphogenesis; and fibroblast migration. Located in several cellular components, including cell junction; cytosol; and nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 38.6), heart (RPKM 21.8) and 13 other tissues See more Orthologs all
SCHLAP1, Official Symbol SCHLAP1provided by HGNC Official Full Name SWI/SNF complex antagonist associated with prostate cancer 1provided by HGNC Primary source HGNC:HGNC:48603 See related Ensembl:ENSG00000281131 MIM:615568; AllianceGenome:HGNC:48603 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 PCAT11; PCAT114; LINC00913 Expression Low expression observed in reference dataset See more
SCIMP, Official Symbol SCIMPprovided by HGNC Official Full Name SLP adaptor and CSK interacting membrane proteinprovided by HGNC Primary source HGNC:HGNC:33504 See related Ensembl:ENSG00000161929 MIM:614406; AllianceGenome:HGNC:33504 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 UNQ5783; C17orf87 Summary This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] Expression Biased expression in spleen (RPKM 11.9), lymph node (RPKM 9.3) and 13 other tissues See more Orthologs mouse all
SCIN, Official Symbol SCINprovided by HGNC Official Full Name scinderinprovided by HGNC Primary source HGNC:HGNC:21695 See related Ensembl:ENSG00000006747 MIM:613416; AllianceGenome:HGNC:21695 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 SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010] Expression Biased expression in small intestine (RPKM 29.7), kidney (RPKM 29.3) and 11 other tissues See more Orthologs mouse all
SCIRT, Official Symbol SCIRTprovided by HGNC Official Full Name stem cell inhibitory RNA transcriptprovided by HGNC Primary source HGNC:HGNC:55341 See related Ensembl:ENSG00000237686 AllianceGenome:HGNC:55341 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 DATOC-1 Expression Biased expression in thyroid (RPKM 1.7), lung (RPKM 1.0) and 10 other tissues See more
SCLT1, Official Symbol SCLT1provided by HGNC Official Full Name sodium channel and clathrin linker 1provided by HGNC Primary source HGNC:HGNC:26406 See related Ensembl:ENSG00000151466 MIM:611399; AllianceGenome:HGNC:26406 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 CAP1A; CAP-1A Summary This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in ovary (RPKM 5.4), spleen (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
SCLY, Official Symbol SCLYprovided by HGNC Official Full Name selenocysteine lyaseprovided by HGNC Primary source HGNC:HGNC:18161 See related Ensembl:ENSG00000132330 MIM:611056; AllianceGenome:HGNC:18161 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 SCL; hSCL Summary Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in kidney (RPKM 6.4), liver (RPKM 4.7) and 25 other tissues See more Orthologs mouse all
SCMH1, Official Symbol SCMH1provided by HGNC Official Full Name Scm polycomb group protein homolog 1provided by HGNC Primary source HGNC:HGNC:19003 See related Ensembl:ENSG00000010803 MIM:616396; AllianceGenome:HGNC:19003 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 Scml3 Summary Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within anterior/posterior pattern specification; chromatin remodeling; and spermatogenesis. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 14.6), ovary (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
SCML1, Official Symbol SCML1provided by HGNC Official Full Name Scm polycomb group protein like 1provided by HGNC Primary source HGNC:HGNC:10580 See related Ensembl:ENSG00000047634 MIM:300227; AllianceGenome:HGNC:10580 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 chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 14.0), ovary (RPKM 6.6) and 24 other tissues See more Orthologs mouse all
SCML2, Official Symbol SCML2provided by HGNC Official Full Name Scm polycomb group protein like 2provided by HGNC Primary source HGNC:HGNC:10581 See related Ensembl:ENSG00000102098 MIM:300208; AllianceGenome:HGNC:10581 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 member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development. [provided by RefSeq, Jun 2010] Expression Broad expression in testis (RPKM 5.8), adrenal (RPKM 1.8) and 19 other tissues See more Orthologs mouse all
SCML2P1, Official Symbol SCML2P1provided by HGNC Official Full Name SCML2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:44329 See related Ensembl:ENSG00000264127 AllianceGenome:HGNC:44329 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SCML4, Official Symbol SCML4provided by HGNC Official Full Name Scm polycomb group protein like 4provided by HGNC Primary source HGNC:HGNC:21397 See related Ensembl:ENSG00000146285 AllianceGenome:HGNC:21397 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 dJ47M23.1 Summary Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 2.2), appendix (RPKM 1.5) and 13 other tissues See more Orthologs mouse all
SCN10A, Official Symbol SCN10Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 10provided by HGNC Primary source HGNC:HGNC:10582 See related Ensembl:ENSG00000185313 MIM:604427; AllianceGenome:HGNC:10582 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 PN3; SNS; FEPS2; Nav1.8 Summary The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
SCN11A, Official Symbol SCN11Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 11provided by HGNC Primary source HGNC:HGNC:10583 See related Ensembl:ENSG00000168356 MIM:604385; AllianceGenome:HGNC:10583 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 NaN; PN5; FEPS3; HSAN7; SNS-2; NAV1.9; SCN12A Summary Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017] Expression Biased expression in spleen (RPKM 1.9), placenta (RPKM 0.6) and 13 other tissues See more Orthologs mouse all
SCN1A, Official Symbol SCN1Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 1provided by HGNC Primary source HGNC:HGNC:10585 See related Ensembl:ENSG00000144285 MIM:182389; AllianceGenome:HGNC:10585 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 DEE6; DRVT; FEB3; FHM3; NAC1; SCN1; SMEI; DEE6A; DEE6B; EIEE6; FEB3A; HBSCI; GEFSP2; Nav1.1 Summary Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015] Expression Biased expression in brain (RPKM 5.3), lung (RPKM 1.3) and 1 other tissue See more Orthologs mouse all
SCN1A-AS1, Official Symbol SCN1A-AS1provided by HGNC Official Full Name SCN1A and SCN9A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54069 See related Ensembl:ENSG00000236107 AllianceGenome:HGNC:54069 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 Broad expression in testis (RPKM 2.4), spleen (RPKM 1.4) and 23 other tissues See more
SCN1B, Official Symbol SCN1Bprovided by HGNC Official Full Name sodium voltage-gated channel beta subunit 1provided by HGNC Primary source HGNC:HGNC:10586 See related Ensembl:ENSG00000105711 MIM:600235; AllianceGenome:HGNC:10586 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 DEE52; ATFB13; BRGDA5; EIEE52; GEFSP1 Summary Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] Expression Broad expression in heart (RPKM 5.3), brain (RPKM 5.1) and 21 other tissues See more Orthologs mouse all
SCN2A, Official Symbol SCN2Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 2provided by HGNC Primary source HGNC:HGNC:10588 See related Ensembl:ENSG00000136531 MIM:182390; AllianceGenome:HGNC:10588 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 EA9; HBA; NAC2; BFIC3; BFIS3; BFNIS; DEE11; HBSCI; EIEE11; HBSCII; Nav1.2; SCN2A1; SCN2A2; Na(v)1.2 Summary Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] Expression Biased expression in brain (RPKM 20.5) and kidney (RPKM 1.1) See more Orthologs all
SCN2B, Official Symbol SCN2Bprovided by HGNC Official Full Name sodium voltage-gated channel beta subunit 2provided by HGNC Primary source HGNC:HGNC:10589 See related Ensembl:ENSG00000149575 MIM:601327; AllianceGenome:HGNC:10589 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 ATFB14 Summary The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015] Expression Biased expression in brain (RPKM 17.5), heart (RPKM 5.3) and 5 other tissues See more Orthologs mouse all
SCN3A, Official Symbol SCN3Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 3provided by HGNC Primary source HGNC:HGNC:10590 See related Ensembl:ENSG00000153253 MIM:182391; AllianceGenome:HGNC:10590 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 NAC3; DEE62; EIEE62; FFEVF4; Nav1.3 Summary Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 5.7), adrenal (RPKM 1.1) and 11 other tissues See more Orthologs mouse all
SCN3B, Official Symbol SCN3Bprovided by HGNC Official Full Name sodium voltage-gated channel beta subunit 3provided by HGNC Primary source HGNC:HGNC:20665 See related Ensembl:ENSG00000166257 MIM:608214; AllianceGenome:HGNC:20665 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 SCNB3; ATFB16; BRGDA7; HSA243396 Summary Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 50.6) and adrenal (RPKM 4.9) See more Orthologs mouse all
SCN4A, Official Symbol SCN4Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 4provided by HGNC Primary source HGNC:HGNC:10591 See related Ensembl:ENSG00000007314 MIM:603967; AllianceGenome:HGNC:10591 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 HYPP; SkM1; CMS16; HYKPP; NAC1A; HOKPP2; Nav1.4; CMYP22A; Na(V)1.4 Summary Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008] Expression Biased expression in fat (RPKM 9.2), thyroid (RPKM 1.5) and 3 other tissues See more Orthologs mouse all
SCN4B, Official Symbol SCN4Bprovided by HGNC Official Full Name sodium voltage-gated channel beta subunit 4provided by HGNC Primary source HGNC:HGNC:10592 See related Ensembl:ENSG00000177098 MIM:608256; AllianceGenome:HGNC:10592 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 LQT10; ATFB17; Navbeta4 Summary The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009] Expression Broad expression in fat (RPKM 19.5), brain (RPKM 8.6) and 18 other tissues See more Orthologs mouse all
SCN5A, Official Symbol SCN5Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 5provided by HGNC Primary source HGNC:HGNC:10593 See related Ensembl:ENSG00000183873 MIM:600163; AllianceGenome:HGNC:10593 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 HB1; HB2; HH1; IVF; VF1; HBBD; ICCD; LQT3; SSS1; CDCD2; CMD1E; CMPD2; PFHB1; Nav1.5 Summary The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022] Expression Restricted expression toward heart (RPKM 17.6) See more Orthologs mouse all
SCN7A, Official Symbol SCN7Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 7provided by HGNC Primary source HGNC:HGNC:10594 See related Ensembl:ENSG00000136546 MIM:182392; AllianceGenome:HGNC:10594 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 NaG; SCN6A; Nav2.1; Nav2.2 Summary This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011] Expression Broad expression in ovary (RPKM 21.8), lung (RPKM 14.7) and 15 other tissues See more Orthologs mouse all
SCN8A, Official Symbol SCN8Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 8provided by HGNC Primary source HGNC:HGNC:10596 See related Ensembl:ENSG00000196876 MIM:600702; AllianceGenome:HGNC:10596 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 MED; PN4; CIAT; BFIS5; DEE13; NaCh6; CERIII; EIEE13; MYOCL2; Nav1.6 Summary This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Expression Biased expression in brain (RPKM 8.0), testis (RPKM 1.0) and 2 other tissues See more Orthologs mouse all
SCN9A, Official Symbol SCN9Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 9provided by HGNC Primary source HGNC:HGNC:10597 See related Ensembl:ENSG00000169432 MIM:603415; AllianceGenome:HGNC:10597 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 PN1; ETHA; NENA; SFNP; FEB3B; NE-NA; GEFSP7; HSAN2D; Nav1.7 Summary This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009] Expression Broad expression in testis (RPKM 3.8), placenta (RPKM 2.0) and 20 other tissues See more Orthologs mouse all
SCNM1, Official Symbol SCNM1provided by HGNC Official Full Name sodium channel modifier 1provided by HGNC Primary source HGNC:HGNC:23136 See related Ensembl:ENSG00000163156 MIM:608095; AllianceGenome:HGNC:23136 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 OFD19 Summary SCNM1 is a zinc finger protein and putative splicing factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM 600702) mutations (Buchner et al., 2003 [PubMed 12920299]).[supplied by OMIM, Oct 2009] Expression Ubiquitous expression in spleen (RPKM 7.6), lymph node (RPKM 7.6) and 25 other tissues See more Orthologs all
SCNN1A, Official Symbol SCNN1Aprovided by HGNC Official Full Name sodium channel epithelial 1 subunit alphaprovided by HGNC Primary source HGNC:HGNC:10599 See related Ensembl:ENSG00000111319 MIM:600228; AllianceGenome:HGNC:10599 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 BESC2; ENaCa; SCNEA; SCNN1; LIDLS3; PHA1B1; ENaCalpha Summary Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009] Expression Broad expression in kidney (RPKM 50.6), colon (RPKM 38.2) and 15 other tissues See more Orthologs mouse all
SCNN1B, Official Symbol SCNN1Bprovided by HGNC Official Full Name sodium channel epithelial 1 subunit betaprovided by HGNC Primary source HGNC:HGNC:10600 See related Ensembl:ENSG00000168447 MIM:600760; AllianceGenome:HGNC:10600 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 BESC1; ENaCb; SCNEB; LIDLS1; PHA1B2; ENaCbeta; beta-ENaC; beta-NaCH Summary Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009] Expression Biased expression in esophagus (RPKM 18.7), colon (RPKM 18.2) and 11 other tissues See more Orthologs mouse all
SCNN1D, Official Symbol SCNN1Dprovided by HGNC Official Full Name sodium channel epithelial 1 subunit deltaprovided by HGNC Primary source HGNC:HGNC:10601 See related Ensembl:ENSG00000162572 MIM:601328; AllianceGenome:HGNC:10601 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 ENaCd; SCNED; dNaCh; ENaCdelta Summary Predicted to enable ligand-gated sodium channel activity. Predicted to be involved in sodium ion transmembrane transport. Located in actin cytoskeleton and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 4.7), brain (RPKM 1.6) and 23 other tissues See more Orthologs all
SCNN1G, Official Symbol SCNN1Gprovided by HGNC Official Full Name sodium channel epithelial 1 subunit gammaprovided by HGNC Primary source HGNC:HGNC:10602 See related Ensembl:ENSG00000166828 MIM:600761; AllianceGenome:HGNC:10602 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 PHA1; BESC3; ENaCg; LDLS2; SCNEG; PHA1B3; ENaCgamma Summary Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009] Expression Biased expression in kidney (RPKM 29.9), salivary gland (RPKM 4.7) and 5 other tissues See more Orthologs mouse all
SCO1, Official Symbol SCO1provided by HGNC Official Full Name synthesis of cytochrome C oxidase 1provided by HGNC Primary source HGNC:HGNC:10603 See related Ensembl:ENSG00000133028 MIM:603644; AllianceGenome:HGNC:10603 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 SCOD1; MC4DN4 Summary Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 11.6), kidney (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
SCO2, Official Symbol SCO2provided by HGNC Official Full Name synthesis of cytochrome C oxidase 2provided by HGNC Primary source HGNC:HGNC:10604 See related Ensembl:ENSG00000284194 MIM:604272; AllianceGenome:HGNC:10604 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 TP; MYP6; TYMP; ECGF1; SCO1L; MC4DN2; CEMCOX1; PD-ECGF; TdRPase; Gliostatin Summary Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014] Expression Ubiquitous expression in spleen (RPKM 14.8), bone marrow (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
SCOC, Official Symbol SCOCprovided by HGNC Official Full Name short coiled-coil proteinprovided by HGNC Primary source HGNC:HGNC:20335 See related Ensembl:ENSG00000153130 AllianceGenome:HGNC:20335 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 SCOCO; UNC-69; HRIHFB2072 Summary This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] Expression Ubiquitous expression in brain (RPKM 55.6), thyroid (RPKM 34.6) and 25 other tissues See more Orthologs mouse all
SCOC-AS1, Official Symbol SCOC-AS1provided by HGNC Official Full Name SCOC antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50601 See related Ensembl:ENSG00000196951 AllianceGenome:HGNC:50601 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
SCOCP1, Official Symbol SCOCP1provided by HGNC Official Full Name short coiled-coil protein pseudogene 1provided by HGNC Primary source HGNC:HGNC:20339 See related AllianceGenome:HGNC:20339 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SCP2, Official Symbol SCP2provided by HGNC Official Full Name sterol carrier protein 2provided by HGNC Primary source HGNC:HGNC:10606 See related Ensembl:ENSG00000116171 MIM:184755; AllianceGenome:HGNC:10606 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 NLTP; SCOX; SCPX; SCP-2; SCP-X; NSL-TP; SCP-CHI Summary This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010] Expression Ubiquitous expression in liver (RPKM 77.0), duodenum (RPKM 30.8) and 24 other tissues See more Orthologs mouse all
SCP2D1, Official Symbol SCP2D1provided by HGNC Official Full Name SCP2 sterol binding domain containing 1provided by HGNC Primary source HGNC:HGNC:16211 See related Ensembl:ENSG00000132631 AllianceGenome:HGNC:16211 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 HSD22; C20orf79; dJ1068E13.2 Summary Predicted to enable sterol binding activity. Predicted to be involved in phospholipid transport; positive regulation of intracellular cholesterol transport; and steroid biosynthetic process. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
SCPEP1, Official Symbol SCPEP1provided by HGNC Official Full Name serine carboxypeptidase 1provided by HGNC Primary source HGNC:HGNC:29507 See related Ensembl:ENSG00000121064 MIM:619723; AllianceGenome:HGNC:29507 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 RISC; HSCP1 Summary Predicted to enable serine-type carboxypeptidase activity. Predicted to be involved in negative regulation of blood pressure and retinoic acid metabolic process. Predicted to act upstream of or within blood vessel diameter maintenance. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 64.9), adrenal (RPKM 63.4) and 24 other tissues See more Orthologs mouse all
SCRG1, Official Symbol SCRG1provided by HGNC Official Full Name stimulator of chondrogenesis 1provided by HGNC Primary source HGNC:HGNC:17036 See related Ensembl:ENSG00000164106 MIM:603163; AllianceGenome:HGNC:17036 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 SCRG-1; lincSCRG1 Summary Scrapie-responsive gene 1 is associated with neurodegenerative changes observed in transmissible spongiform encephalopathies. It may play a role in host response to prion-associated infections. The scrapie responsive protein 1 may be partly included in the membrane or secreted by the cells due to its hydrophobic N-terminus. In addition, the encoded protein can interact with bone marrow stromal cell antigen 1 (BST1) to enhance the differentiation potentials of human mesenchymal stem cells during tissue and bone regeneration. [provided by RefSeq, Jul 2016] Expression Biased expression in brain (RPKM 46.0), testis (RPKM 30.3) and 3 other tissues See more Orthologs mouse all
SCRIB, Official Symbol SCRIBprovided by HGNC Official Full Name scribble planar cell polarity proteinprovided by HGNC Primary source HGNC:HGNC:30377 See related Ensembl:ENSG00000180900 MIM:607733; AllianceGenome:HGNC:30377 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 CRIB1; SCRB1; SCRIB1; Vartul; oSCRIB Summary This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in colon (RPKM 9.3), skin (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
SCRN1, Official Symbol SCRN1provided by HGNC Official Full Name secernin 1provided by HGNC Primary source HGNC:HGNC:22192 See related Ensembl:ENSG00000136193 MIM:614965; AllianceGenome:HGNC:22192 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 SES1 Summary This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] Expression Broad expression in brain (RPKM 69.1), testis (RPKM 17.1) and 22 other tissues See more Orthologs mouse all
SCRN2, Official Symbol SCRN2provided by HGNC Official Full Name secernin 2provided by HGNC Primary source HGNC:HGNC:30381 See related Ensembl:ENSG00000141295 MIM:614966; AllianceGenome:HGNC:30381 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 Ses2 Summary Predicted to enable cysteine-type exopeptidase activity and dipeptidase activity. Predicted to be involved in proteolysis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 52.8), kidney (RPKM 36.1) and 25 other tissues See more Orthologs mouse all
SCRN3, Official Symbol SCRN3provided by HGNC Official Full Name secernin 3provided by HGNC Primary source HGNC:HGNC:30382 See related Ensembl:ENSG00000144306 MIM:614967; AllianceGenome:HGNC:30382 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 SES3 Summary Predicted to enable cysteine-type exopeptidase activity and dipeptidase activity. Predicted to be involved in proteolysis. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 6.9), thyroid (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
SCRT1, Official Symbol SCRT1provided by HGNC Official Full Name scratch family transcriptional repressor 1provided by HGNC Primary source HGNC:HGNC:15950 See related Ensembl:ENSG00000261678 MIM:605858; AllianceGenome:HGNC:15950 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 SCRT; ZNF898 Summary This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs. The encoded protein may promote neural differention and may be involved in cancers with neuroendocrine features. [provided by RefSeq, Jul 2013] Expression Biased expression in brain (RPKM 4.1), adrenal (RPKM 0.6) and 1 other tissue See more Orthologs mouse all
SCRT2, Official Symbol SCRT2provided by HGNC Official Full Name scratch family transcriptional repressor 2provided by HGNC Primary source HGNC:HGNC:15952 See related Ensembl:ENSG00000215397 AllianceGenome:HGNC:15952 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 ZNF898B Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors and negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of neuron migration. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SCT, Official Symbol SCTprovided by HGNC Official Full Name secretinprovided by HGNC Primary source HGNC:HGNC:10607 See related Ensembl:ENSG00000070031 MIM:182099; AllianceGenome:HGNC:10607 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 member of the glucagon family of peptides. The encoded preproprotein is secreted by endocrine S cells in the proximal small intestinal mucosa as a prohormone, then proteolytically processed to generate the mature peptide hormone. The release of this active peptide hormone is stimulated by either fatty acids or acidic pH in the duodenum. This hormone stimulates the secretion of bile and bicarbonate in the duodenum, pancreatic and biliary ducts. [provided by RefSeq, Feb 2016] Expression Biased expression in duodenum (RPKM 7.1), small intestine (RPKM 1.4) and 2 other tissues See more Orthologs mouse all