psui3905/ncbi_genes_summary huggingface dataset:
SOD3, Official Symbol SOD3provided by HGNC Official Full Name superoxide dismutase 3provided by HGNC Primary source HGNC:HGNC:11181 See related Ensembl:ENSG00000109610 MIM:185490; AllianceGenome:HGNC:11181 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 EC-SOD Summary This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015] Expression Broad expression in fat (RPKM 92.3), kidney (RPKM 26.6) and 19 other tissues See more Orthologs mouse all
SOGA1, Official Symbol MTCL2provided by HGNC Official Full Name microtubule crosslinking factor 2provided by HGNC Primary source HGNC:HGNC:16111 See related Ensembl:ENSG00000149639 MIM:620225; AllianceGenome:HGNC:16111 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 SOGA; SOGA1; KIAA0889; C20orf117 Summary Predicted to be involved in insulin receptor signaling pathway; negative regulation of gluconeogenesis; and regulation of autophagy. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 9.7), brain (RPKM 6.2) and 22 other tissues See more Orthologs mouse all
SOGA3, Official Symbol MTCL3provided by HGNC Official Full Name MTCL family member 3provided by HGNC Primary source HGNC:HGNC:21494 See related Ensembl:ENSG00000214338 AllianceGenome:HGNC:21494 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 SOGA3; C6orf174; dJ403A15.3 Summary Predicted to be involved in regulation of autophagy. Predicted to be located in extracellular space. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 11.8), fat (RPKM 5.6) and 13 other tissues See more Orthologs mouse all
SOHLH1, Official Symbol SOHLH1provided by HGNC Official Full Name spermatogenesis and oogenesis specific basic helix-loop-helix 1provided by HGNC Primary source HGNC:HGNC:27845 See related Ensembl:ENSG00000165643 MIM:610224; AllianceGenome:HGNC:27845 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 ODG5; TEB2; NOHLH; SPGF32; SPATA27; bHLHe80; C9orf157; bA100C15.3 Summary This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] Expression Restricted expression toward testis (RPKM 2.3) See more Orthologs mouse all
SOHLH2, Official Symbol SOHLH2provided by HGNC Official Full Name spermatogenesis and oogenesis specific basic helix-loop-helix 2provided by HGNC Primary source HGNC:HGNC:26026 See related Ensembl:ENSG00000120669 MIM:616066; AllianceGenome:HGNC:26026 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 TEB1; SOSF2; SPATA28; bHLHe81 Summary This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169 (GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] Expression Restricted expression toward testis (RPKM 13.1) See more Orthologs mouse all
SON, Official Symbol SONprovided by HGNC Official Full Name SON DNA and RNA binding proteinprovided by HGNC Primary source HGNC:HGNC:11183 See related Ensembl:ENSG00000159140 MIM:182465; AllianceGenome:HGNC:11183 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 SON3; BASS1; DBP-5; NREBP; TOKIMS; C21orf50 Summary This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in bone marrow (RPKM 43.7), lymph node (RPKM 33.4) and 25 other tissues See more Orthologs mouse all
SORBS1, Official Symbol SORBS1provided by HGNC Official Full Name sorbin and SH3 domain containing 1provided by HGNC Primary source HGNC:HGNC:14565 See related Ensembl:ENSG00000095637 MIM:605264; AllianceGenome:HGNC:14565 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 CAP; FLAF2; R85FL; SH3D5; SORB1; SH3P12 Summary This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Broad expression in fat (RPKM 111.7), heart (RPKM 81.6) and 15 other tissues See more Orthologs mouse all
SORBS2, Official Symbol SORBS2provided by HGNC Official Full Name sorbin and SH3 domain containing 2provided by HGNC Primary source HGNC:HGNC:24098 See related Ensembl:ENSG00000154556 MIM:616349; AllianceGenome:HGNC:24098 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 ARGBP2; PRO0618 Summary Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in heart (RPKM 46.6), adrenal (RPKM 26.3) and 19 other tissues See more Orthologs mouse all
SORBS3, Official Symbol SORBS3provided by HGNC Official Full Name sorbin and SH3 domain containing 3provided by HGNC Primary source HGNC:HGNC:30907 See related Ensembl:ENSG00000120896 MIM:610795; AllianceGenome:HGNC:30907 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 SCAM1; SH3D4; SCAM-1 Summary This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in fat (RPKM 30.7), testis (RPKM 27.8) and 24 other tissues See more Orthologs mouse all
SORCS1, Official Symbol SORCS1provided by HGNC Official Full Name sortilin related VPS10 domain containing receptor 1provided by HGNC Primary source HGNC:HGNC:16697 See related Ensembl:ENSG00000108018 MIM:606283; AllianceGenome:HGNC:16697 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 hSorCS Summary This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 5.3), brain (RPKM 3.7) and 16 other tissues See more Orthologs mouse all
SORCS2, Official Symbol SORCS2provided by HGNC Official Full Name sortilin related VPS10 domain containing receptor 2provided by HGNC Primary source HGNC:HGNC:16698 See related Ensembl:ENSG00000184985 MIM:606284; AllianceGenome:HGNC:16698 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 one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 4.7), kidney (RPKM 2.0) and 20 other tissues See more Orthologs mouse all
SORCS3, Official Symbol SORCS3provided by HGNC Official Full Name sortilin related VPS10 domain containing receptor 3provided by HGNC Primary source HGNC:HGNC:16699 See related Ensembl:ENSG00000156395 MIM:606285; AllianceGenome:HGNC:16699 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 SORCS Summary This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014] Expression Biased expression in brain (RPKM 4.8), adrenal (RPKM 1.2) and 1 other tissue See more Orthologs mouse all
SORCS3-AS1, Official Symbol SORCS3-AS1provided by HGNC Official Full Name SORCS3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:45244 See related Ensembl:ENSG00000226387 AllianceGenome:HGNC:45244 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 Restricted expression toward testis (RPKM 11.3) See more
SORD, Official Symbol SORDprovided by HGNC Official Full Name sorbitol dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:11184 See related Ensembl:ENSG00000140263 MIM:182500; AllianceGenome:HGNC:11184 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 RDH; SDH; XDH; SORD1; SORDD; HEL-S-95n Summary Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010] Expression Biased expression in thyroid (RPKM 163.1), liver (RPKM 161.4) and 11 other tissues See more Orthologs mouse all
SORL1, Official Symbol SORL1provided by HGNC Official Full Name sortilin related receptor 1provided by HGNC Primary source HGNC:HGNC:11185 See related Ensembl:ENSG00000137642 MIM:602005; AllianceGenome:HGNC:11185 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 LR11; LRP9; SORLA; gp250; SorLA-1; C11orf32 Summary This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016] Annotation information Note: In some of the published literature, this gene has been incorrectly associated with the LRP9 alias, but the LRP9 alias more correctly refers to Gene ID 26020, LRP10. [05 May 2010] Expression Ubiquitous expression in brain (RPKM 22.4), liver (RPKM 16.3) and 21 other tissues See more Orthologs mouse all
SORT1, Official Symbol SORT1provided by HGNC Official Full Name sortilin 1provided by HGNC Primary source HGNC:HGNC:11186 See related Ensembl:ENSG00000134243 MIM:602458; AllianceGenome:HGNC:11186 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 NT3; Gp95; NTR3; LDLCQ6 Summary This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] Expression Broad expression in brain (RPKM 47.1), testis (RPKM 30.3) and 22 other tissues See more Orthologs mouse all
SOS1, Official Symbol SOS1provided by HGNC Official Full Name SOS Ras/Rac guanine nucleotide exchange factor 1provided by HGNC Primary source HGNC:HGNC:11187 See related Ensembl:ENSG00000115904 MIM:182530; AllianceGenome:HGNC:11187 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 GF1; HGF; NS4; GGF1; GINGF; SOS-1 Summary This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 10.4), ovary (RPKM 10.2) and 25 other tissues See more Orthologs mouse all
SOS1-IT1, Official Symbol SOS1-IT1provided by HGNC Official Full Name SOS1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41385 See related AllianceGenome:HGNC:41385 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
SOS2, Official Symbol SOS2provided by HGNC Official Full Name SOS Ras/Rho guanine nucleotide exchange factor 2provided by HGNC Primary source HGNC:HGNC:11188 See related Ensembl:ENSG00000100485 MIM:601247; AllianceGenome:HGNC:11188 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 NS9; SOS-2 Summary This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in testis (RPKM 19.8), thyroid (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
SOST, Official Symbol SOSTprovided by HGNC Official Full Name sclerostinprovided by HGNC Primary source HGNC:HGNC:13771 See related Ensembl:ENSG00000167941 MIM:605740; AllianceGenome:HGNC:13771 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 CDD; VBCH; DAND6; SOST1 Summary Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008] Expression Restricted expression toward kidney (RPKM 7.5) See more Orthologs mouse all
SOSTDC1, Official Symbol SOSTDC1provided by HGNC Official Full Name sclerostin domain containing 1provided by HGNC Primary source HGNC:HGNC:21748 See related Ensembl:ENSG00000171243 MIM:609675; AllianceGenome:HGNC:21748 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 DAND7; USAG1; CDA019; ECTODIN Summary This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008] Expression Biased expression in lung (RPKM 31.5), stomach (RPKM 24.1) and 9 other tissues See more Orthologs mouse all
SOWAHA, Official Symbol SOWAHAprovided by HGNC Official Full Name sosondowah ankyrin repeat domain family member Aprovided by HGNC Primary source HGNC:HGNC:27033 See related Ensembl:ENSG00000198944 AllianceGenome:HGNC:27033 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 ANKRD43 Orthologs mouse all
SOWAHB, Official Symbol SOWAHBprovided by HGNC Official Full Name sosondowah ankyrin repeat domain family member Bprovided by HGNC Primary source HGNC:HGNC:32958 See related Ensembl:ENSG00000186212 AllianceGenome:HGNC:32958 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 ANKRD56 Orthologs mouse all
SOWAHC, Official Symbol SOWAHCprovided by HGNC Official Full Name sosondowah ankyrin repeat domain family member Cprovided by HGNC Primary source HGNC:HGNC:26149 See related Ensembl:ENSG00000198142 AllianceGenome:HGNC:26149 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 ANKRD57; C2orf26 Orthologs mouse all
SOWAHCP5, Official Symbol SOWAHCP5provided by HGNC Official Full Name SOWAHC pseudogene 5provided by HGNC Primary source HGNC:HGNC:54509 See related Ensembl:ENSG00000278631 AllianceGenome:HGNC:54509 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SOWAHD, Official Symbol SOWAHDprovided by HGNC Official Full Name sosondowah ankyrin repeat domain family member Dprovided by HGNC Primary source HGNC:HGNC:32960 See related Ensembl:ENSG00000187808 AllianceGenome:HGNC:32960 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 ANKRD58 Orthologs mouse all
SOX1, Official Symbol SOX1provided by HGNC Official Full Name SRY-box transcription factor 1provided by HGNC Primary source HGNC:HGNC:11189 See related Ensembl:ENSG00000182968 MIM:602148; AllianceGenome:HGNC:11189 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 intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008] Orthologs mouse all
SOX1-OT, Official Symbol SOX1-OTprovided by HGNC Official Full Name SOX1 overlapping transcriptprovided by HGNC Primary source HGNC:HGNC:42733 See related Ensembl:ENSG00000224243 AllianceGenome:HGNC:42733 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 LINC00403 Expression Biased expression in brain (RPKM 2.9), salivary gland (RPKM 0.8) and 1 other tissue See more
SOX10, Official Symbol SOX10provided by HGNC Official Full Name SRY-box transcription factor 10provided by HGNC Primary source HGNC:HGNC:11190 See related Ensembl:ENSG00000100146 MIM:602229; AllianceGenome:HGNC:11190 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 DOM; WS4; PCWH; WS2E; WS4C; SOX-10 Summary This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008] Expression Biased expression in salivary gland (RPKM 23.7), brain (RPKM 19.6) and 7 other tissues See more Orthologs mouse all
SOX11, Official Symbol SOX11provided by HGNC Official Full Name SRY-box transcription factor 11provided by HGNC Primary source HGNC:HGNC:11191 See related Ensembl:ENSG00000176887 MIM:600898; AllianceGenome:HGNC:11191 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 CSS9; MRD27; IDDMOH Summary This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008] Orthologs mouse all
SOX12, Official Symbol SOX12provided by HGNC Official Full Name SRY-box transcription factor 12provided by HGNC Primary source HGNC:HGNC:11198 See related Ensembl:ENSG00000177732 MIM:601947; AllianceGenome:HGNC:11198 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 SOX22 Summary Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013] Orthologs mouse all
SOX13, Official Symbol SOX13provided by HGNC Official Full Name SRY-box transcription factor 13provided by HGNC Primary source HGNC:HGNC:11192 See related Ensembl:ENSG00000143842 MIM:604748; AllianceGenome:HGNC:11192 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 ICA12; Sox-13 Summary This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 12.7), endometrium (RPKM 11.6) and 24 other tissues See more Orthologs mouse all
SOX14, Official Symbol SOX14provided by HGNC Official Full Name SRY-box transcription factor 14provided by HGNC Primary source HGNC:HGNC:11193 See related Ensembl:ENSG00000168875 MIM:604747; AllianceGenome:HGNC:11193 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 SOX28 Summary This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008] Orthologs mouse all
SOX15, Official Symbol SOX15provided by HGNC Official Full Name SRY-box transcription factor 15provided by HGNC Primary source HGNC:HGNC:11196 See related Ensembl:ENSG00000129194 MIM:601297; AllianceGenome:HGNC:11196 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 SOX20; SOX26; SOX27 Summary This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 12.3), esophagus (RPKM 6.9) and 8 other tissues See more Orthologs mouse all
SOX17, Official Symbol SOX17provided by HGNC Official Full Name SRY-box transcription factor 17provided by HGNC Primary source HGNC:HGNC:18122 See related Ensembl:ENSG00000164736 MIM:610928; AllianceGenome:HGNC:18122 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 VUR3 Summary This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 12.0), fat (RPKM 9.8) and 14 other tissues See more Orthologs mouse all
SOX18, Official Symbol SOX18provided by HGNC Official Full Name SRY-box transcription factor 18provided by HGNC Primary source HGNC:HGNC:11194 See related Ensembl:ENSG00000203883 MIM:601618; AllianceGenome:HGNC:11194 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 HLTS; HLTRS Summary This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008] Expression Biased expression in fat (RPKM 25.4), kidney (RPKM 7.2) and 9 other tissues See more Orthologs mouse all
SOX2, Official Symbol SOX2provided by HGNC Official Full Name SRY-box transcription factor 2provided by HGNC Primary source HGNC:HGNC:11195 See related Ensembl:ENSG00000181449 MIM:184429; AllianceGenome:HGNC:11195 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 ANOP3; MCOPS3 Summary This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008] Orthologs mouse all
SOX2-OT, Official Symbol SOX2-OTprovided by HGNC Official Full Name SOX2 overlapping transcriptprovided by HGNC Primary source HGNC:HGNC:20209 See related Ensembl:ENSG00000242808 MIM:616338; AllianceGenome:HGNC:20209 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SOX2OT; NCRNA00043 Summary This gene produces alternatively spliced long non-coding RNAs. These RNAs were observed to be upregulated in tumor cells and positively correlated to expression of the SRY-box 2 gene. Overexpression of these transcripts may promote cell proliferation. [provided by RefSeq, Dec 2017] Expression Restricted expression toward brain (RPKM 80.2) See more
SOX21, Official Symbol SOX21provided by HGNC Official Full Name SRY-box transcription factor 21provided by HGNC Primary source HGNC:HGNC:11197 See related Ensembl:ENSG00000125285 MIM:604974; AllianceGenome:HGNC:11197 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 SOX25 Summary SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM, Apr 2004] Orthologs mouse all
SOX21-AS1, Official Symbol SOX21-AS1provided by HGNC Official Full Name SOX21 antisense divergent transcript 1provided by HGNC Primary source HGNC:HGNC:39807 See related Ensembl:ENSG00000227640 AllianceGenome:HGNC:39807 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in stomach (RPKM 6.7), skin (RPKM 3.6) and 3 other tissues See more Orthologs mouse all
SOX3, Official Symbol SOX3provided by HGNC Official Full Name SRY-box transcription factor 3provided by HGNC Primary source HGNC:HGNC:11199 See related Ensembl:ENSG00000134595 MIM:313430; AllianceGenome:HGNC:11199 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 PHP; GHDX; MRGH; PHPX; SOXB Summary This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008] Orthologs mouse all
SOX30, Official Symbol SOX30provided by HGNC Official Full Name SRY-box transcription factor 30provided by HGNC Primary source HGNC:HGNC:30635 See related Ensembl:ENSG00000039600 MIM:606698; AllianceGenome:HGNC:30635 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 SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015] Expression Restricted expression toward testis (RPKM 26.2) See more Orthologs mouse all
SOX4, Official Symbol SOX4provided by HGNC Official Full Name SRY-box transcription factor 4provided by HGNC Primary source HGNC:HGNC:11200 See related Ensembl:ENSG00000124766 MIM:184430; AllianceGenome:HGNC:11200 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 CSS10; EVI16 Summary This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008] Orthologs mouse all
SOX5, Official Symbol SOX5provided by HGNC Official Full Name SRY-box transcription factor 5provided by HGNC Primary source HGNC:HGNC:11201 See related Ensembl:ENSG00000134532 MIM:604975; AllianceGenome:HGNC:11201 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 L-SOX5; LAMSHF; L-SOX5B; L-SOX5F Summary This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 2.2), brain (RPKM 1.6) and 22 other tissues See more Orthologs mouse all
SOX5-AS1, Official Symbol SOX5-AS1provided by HGNC Official Full Name SOX5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53311 See related Ensembl:ENSG00000256120 AllianceGenome:HGNC:53311 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 Restricted expression toward testis (RPKM 4.9) See more
SOX6, Official Symbol SOX6provided by HGNC Official Full Name SRY-box transcription factor 6provided by HGNC Primary source HGNC:HGNC:16421 See related Ensembl:ENSG00000110693 MIM:607257; AllianceGenome:HGNC:16421 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 SOXD; HSSOX6; TOLCAS Summary This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009] Expression Broad expression in brain (RPKM 4.6), kidney (RPKM 4.5) and 23 other tissues See more Orthologs mouse all
SOX7, Official Symbol SOX7provided by HGNC Official Full Name SRY-box transcription factor 7provided by HGNC Primary source HGNC:HGNC:18196 See related Ensembl:ENSG00000171056 MIM:612202; AllianceGenome:HGNC:18196 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 SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 14.9), lung (RPKM 8.3) and 19 other tissues See more Orthologs mouse all
SOX8, Official Symbol SOX8provided by HGNC Official Full Name SRY-box transcription factor 8provided by HGNC Primary source HGNC:HGNC:11203 See related Ensembl:ENSG00000005513 MIM:605923; AllianceGenome:HGNC:11203 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 SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the cognitive disability found in an alpha-thalassemia-related syndrome (ART-16). This protein is also highly expressed in the majority of human hepatocellular carcinomas and promotes cellular proliferation and enhanced tumor growth. [provided by RefSeq, Jul 2017] Expression Biased expression in brain (RPKM 44.7) and salivary gland (RPKM 3.1) See more Orthologs mouse all
SOX9, Official Symbol SOX9provided by HGNC Official Full Name SRY-box transcription factor 9provided by HGNC Primary source HGNC:HGNC:11204 See related Ensembl:ENSG00000125398 MIM:608160; AllianceGenome:HGNC:11204 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 CMD1; SRA1; CMPD1; SRXX2; SRXY10 Summary The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 26.5), brain (RPKM 25.2) and 17 other tissues See more Orthologs mouse all
SOX9-AS1, Official Symbol SOX9-AS1provided by HGNC Official Full Name SOX9 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49321 See related Ensembl:ENSG00000234899 AllianceGenome:HGNC:49321 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