psui3905/ncbi_genes_summary huggingface dataset:
STAB1, Official Symbol STAB1provided by HGNC Official Full Name stabilin 1provided by HGNC Primary source HGNC:HGNC:18628 See related Ensembl:ENSG00000010327 MIM:608560; AllianceGenome:HGNC:18628 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 FEX1; FEEL1; FEEL-1; FELE-1; SCARH2; STAB-1; CLEVER-1 Summary This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 55.7), placenta (RPKM 32.7) and 21 other tissues See more Orthologs mouse all
STAB2, Official Symbol STAB2provided by HGNC Official Full Name stabilin 2provided by HGNC Primary source HGNC:HGNC:18629 See related Ensembl:ENSG00000136011 MIM:608561; AllianceGenome:HGNC:18629 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 FEX2; HARE; FEEL2; FELL2; FELE-2; SCARH1 Summary This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008] Expression Biased expression in spleen (RPKM 18.3), liver (RPKM 4.3) and 2 other tissues See more Orthologs mouse all
STAC, Official Symbol STACprovided by HGNC Official Full Name SH3 and cysteine rich domainprovided by HGNC Primary source HGNC:HGNC:11353 See related Ensembl:ENSG00000144681 MIM:602317; AllianceGenome:HGNC:11353 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 STAC1 Summary Predicted to enable transmembrane transporter binding activity. Predicted to be involved in positive regulation of protein localization to plasma membrane; positive regulation of voltage-gated calcium channel activity; and skeletal muscle contraction. Predicted to act upstream of or within cellular response to heat; muscle contraction; and regulation of voltage-gated calcium channel activity. Predicted to be located in T-tubule. Predicted to be extrinsic component of cytoplasmic side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 5.7), lung (RPKM 4.4) and 11 other tissues See more Orthologs mouse all
STAC2, Official Symbol STAC2provided by HGNC Official Full Name SH3 and cysteine rich domain 2provided by HGNC Primary source HGNC:HGNC:23990 See related Ensembl:ENSG00000141750 AllianceGenome:HGNC:23990 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 24b2; 24b2/STAC2 Summary This gene encodes a protein containing an SH3 domain and a zinc finger domain. The encoded protein has been shown to regulate calcium channel inactivation in a human cell line. Reduced expression of this gene has been observed in human heart failure. [provided by RefSeq, May 2017] Expression Biased expression in brain (RPKM 11.7), kidney (RPKM 2.2) and 3 other tissues See more Orthologs mouse all
STAC3, Official Symbol STAC3provided by HGNC Official Full Name SH3 and cysteine rich domain 3provided by HGNC Primary source HGNC:HGNC:28423 See related Ensembl:ENSG00000185482 MIM:615521; AllianceGenome:HGNC:28423 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 NAM; MYPBB; CMYP13 Summary The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013] Expression Biased expression in prostate (RPKM 23.6), esophagus (RPKM 13.8) and 8 other tissues See more Orthologs mouse all
STAG1, Official Symbol STAG1provided by HGNC Official Full Name STAG1 cohesin complex componentprovided by HGNC Primary source HGNC:HGNC:11354 See related Ensembl:ENSG00000118007 MIM:604358; AllianceGenome:HGNC:11354 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 SA1; MRD47; SCC3A Summary This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 10.7), endometrium (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
STAG2, Official Symbol STAG2provided by HGNC Official Full Name STAG2 cohesin complex componentprovided by HGNC Primary source HGNC:HGNC:11355 See related Ensembl:ENSG00000101972 MIM:300826; AllianceGenome:HGNC:11355 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 SA2; MKMS; SA-2; HPE13; SCC3B; NEDXCF; bA517O1.1 Summary The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in thyroid (RPKM 24.4), bone marrow (RPKM 22.3) and 25 other tissues See more Orthologs mouse all
STAG3, Official Symbol STAG3provided by HGNC Official Full Name STAG3 cohesin complex componentprovided by HGNC Primary source HGNC:HGNC:11356 See related Ensembl:ENSG00000066923 MIM:608489; AllianceGenome:HGNC:11356 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 SA3; SPGF61 Summary The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014] Expression Biased expression in testis (RPKM 44.6), brain (RPKM 6.1) and 2 other tissues See more Orthologs mouse all
STAG3L2, Official Symbol STAG3L2provided by HGNC Official Full Name STAG3 cohesin complex component like 2 (pseudogene)provided by HGNC Primary source HGNC:HGNC:33886 See related AllianceGenome:HGNC:33886 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as STAG3L1; STAG3L3; STAG3L2P Summary Predicted to enable chromatin binding activity. Predicted to be involved in sister chromatid cohesion. Predicted to be part of cohesin complex. Predicted to be active in chromatin and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 30.7), spleen (RPKM 13.6) and 24 other tissues See more
STAG3L5P, Official Symbol STAG3L5Pprovided by HGNC Official Full Name STAG3 cohesin complex component like 5, pseudogeneprovided by HGNC Primary source HGNC:HGNC:48896 See related Ensembl:ENSG00000290682 AllianceGenome:HGNC:48896 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in testis (RPKM 25.5), spleen (RPKM 14.0) and 25 other tissues See more
STAG3L5P-PVRIG2P-PILRB, Official Symbol STAG3L5P-PVRIG2P-PILRBprovided by HGNC Official Full Name STAG3L5P-PVRIG2P-PILRB readthroughprovided by HGNC Primary source HGNC:HGNC:48898 See related Ensembl:ENSG00000272752 AllianceGenome:HGNC:48898 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 PILRB; FDFACT; LOC101735302-LOC101752334-PILRB Summary This locus represents naturally occurring readthrough transcription among the neighboring LOC101735302 (stromal antigen 3 pseudogene), LOC101752334 (poliovirus receptor related immunoglobulin domain containing pseudogene) and PILRB (paired immunoglobin-like type 2 receptor beta) genes on chromosome 7. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in testis (RPKM 49.6), spleen (RPKM 33.6) and 25 other tissues See more
STAM, Official Symbol STAMprovided by HGNC Official Full Name signal transducing adaptor moleculeprovided by HGNC Primary source HGNC:HGNC:11357 See related Ensembl:ENSG00000136738 MIM:601899; AllianceGenome:HGNC:11357 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 STAM1; STAM-1 Summary This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in bone marrow (RPKM 13.8), brain (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
STAM2, Official Symbol STAM2provided by HGNC Official Full Name signal transducing adaptor molecule 2provided by HGNC Primary source HGNC:HGNC:11358 See related Ensembl:ENSG00000115145 MIM:606244; AllianceGenome:HGNC:11358 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 Hbp; STAM2A; STAM2B Summary The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 10.8), thyroid (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
STAMBP, Official Symbol STAMBPprovided by HGNC Official Full Name STAM binding proteinprovided by HGNC Primary source HGNC:HGNC:16950 See related Ensembl:ENSG00000124356 MIM:606247; AllianceGenome:HGNC:16950 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 AMSH; MICCAP Summary Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 4.9), brain (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
STAMBPL1, Official Symbol STAMBPL1provided by HGNC Official Full Name STAM binding protein like 1provided by HGNC Primary source HGNC:HGNC:24105 See related Ensembl:ENSG00000138134 MIM:612352; AllianceGenome:HGNC:24105 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 AMSH-FP; AMSH-LP; ALMalpha; bA399O19.2 Summary Predicted to enable Lys63-specific deubiquitinase activity and thiol-dependent deubiquitinase. Predicted to be involved in protein K63-linked deubiquitination. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in adrenal (RPKM 7.5), testis (RPKM 6.2) and 22 other tissues See more Orthologs mouse all
STAP1, Official Symbol STAP1provided by HGNC Official Full Name signal transducing adaptor family member 1provided by HGNC Primary source HGNC:HGNC:24133 See related Ensembl:ENSG00000035720 MIM:604298; AllianceGenome:HGNC:24133 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 BRDG1; STAP-1 Summary The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Biased expression in lymph node (RPKM 15.1), appendix (RPKM 6.5) and 5 other tissues See more Orthologs mouse all
STAP2, Official Symbol STAP2provided by HGNC Official Full Name signal transducing adaptor family member 2provided by HGNC Primary source HGNC:HGNC:30430 See related Ensembl:ENSG00000178078 MIM:607881; AllianceGenome:HGNC:30430 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 BKS Summary This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 37.7), small intestine (RPKM 30.7) and 18 other tissues See more Orthologs mouse all
STAR, Official Symbol STARprovided by HGNC Official Full Name steroidogenic acute regulatory proteinprovided by HGNC Primary source HGNC:HGNC:11359 See related Ensembl:ENSG00000147465 MIM:600617; AllianceGenome:HGNC:11359 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 STARD1 Summary The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 722.2), ovary (RPKM 68.2) and 1 other tissue See more Orthologs mouse all
STARD10, Official Symbol STARD10provided by HGNC Official Full Name StAR related lipid transfer domain containing 10provided by HGNC Primary source HGNC:HGNC:10666 See related Ensembl:ENSG00000214530 MIM:617382; AllianceGenome:HGNC:10666 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 PCTP2; CGI-52; NY-CO-28; SDCCAG28 Summary Predicted to enable lipid binding activity. Predicted to be involved in lipid transport. Predicted to act upstream of or within bile acid secretion and positive regulation of peroxisome proliferator activated receptor signaling pathway. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in liver (RPKM 47.9), stomach (RPKM 44.9) and 23 other tissues See more Orthologs mouse all
STARD13, Official Symbol STARD13provided by HGNC Official Full Name StAR related lipid transfer domain containing 13provided by HGNC Primary source HGNC:HGNC:19164 See related Ensembl:ENSG00000133121 MIM:609866; AllianceGenome:HGNC:19164 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 DLC2; GT650; ARHGAP37; LINC00464 Summary This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in placenta (RPKM 9.3), thyroid (RPKM 7.8) and 24 other tissues See more Orthologs mouse all
STARD13-AS, Official Symbol STARD13-ASprovided by HGNC Official Full Name STARD13 antisense RNAprovided by HGNC Primary source HGNC:HGNC:40873 See related Ensembl:ENSG00000236581 AllianceGenome:HGNC:40873 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 STARD13-AS2 Expression Biased expression in testis (RPKM 5.8) and kidney (RPKM 0.6) See more
STARD3, Official Symbol STARD3provided by HGNC Official Full Name StAR related lipid transfer domain containing 3provided by HGNC Primary source HGNC:HGNC:17579 See related Ensembl:ENSG00000131748 MIM:607048; AllianceGenome:HGNC:17579 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 CAB1; es64; MLN64 Summary This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in testis (RPKM 14.1), spleen (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
STARD3NL, Official Symbol STARD3NLprovided by HGNC Official Full Name STARD3 N-terminal likeprovided by HGNC Primary source HGNC:HGNC:19169 See related Ensembl:ENSG00000010270 MIM:611759; AllianceGenome:HGNC:19169 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 MENTHO Summary This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in prostate (RPKM 17.0), placenta (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
STARD4, Official Symbol STARD4provided by HGNC Official Full Name StAR related lipid transfer domain containing 4provided by HGNC Primary source HGNC:HGNC:18058 See related Ensembl:ENSG00000164211 MIM:607049; AllianceGenome:HGNC:18058 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 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in duodenum (RPKM 9.8), small intestine (RPKM 9.3) and 22 other tissues See more Orthologs mouse all
STARD4-AS1, Official Symbol STARD4-AS1provided by HGNC Official Full Name STARD4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44117 See related Ensembl:ENSG00000246859 AllianceGenome:HGNC:44117 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in brain (RPKM 4.2), placenta (RPKM 4.0) and 24 other tissues See more
STARD5, Official Symbol STARD5provided by HGNC Official Full Name StAR related lipid transfer domain containing 5provided by HGNC Primary source HGNC:HGNC:18065 See related Ensembl:ENSG00000172345 MIM:607050; AllianceGenome:HGNC:18065 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 Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in skin (RPKM 22.1), spleen (RPKM 14.8) and 23 other tissues See more Orthologs mouse all
STARD6, Official Symbol STARD6provided by HGNC Official Full Name StAR related lipid transfer domain containing 6provided by HGNC Primary source HGNC:HGNC:18066 See related Ensembl:ENSG00000174448 MIM:607051; AllianceGenome:HGNC:18066 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 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008] Expression Restricted expression toward testis (RPKM 7.1) See more Orthologs mouse all
STARD7, Official Symbol STARD7provided by HGNC Official Full Name StAR related lipid transfer domain containing 7provided by HGNC Primary source HGNC:HGNC:18063 See related Ensembl:ENSG00000084090 MIM:616712; AllianceGenome:HGNC:18063 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 FAME; GTT1; ADCME; FAME2; BAFME2; FCMTE2 Summary Predicted to enable lipid binding activity. Predicted to act upstream of or within several processes, including establishment of skin barrier; mucociliary clearance; and myeloid dendritic cell activation. Predicted to be located in cytoplasm and extracellular region. Implicated in familial adult myoclonic epilepsy 2. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 46.9), brain (RPKM 44.7) and 25 other tissues See more Orthologs mouse all
STARD7-AS1, Official Symbol STARD7-AS1provided by HGNC Official Full Name STARD7 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40827 See related AllianceGenome:HGNC:40827 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in kidney (RPKM 7.0), colon (RPKM 4.9) and 24 other tissues See more
STARD8, Official Symbol STARD8provided by HGNC Official Full Name StAR related lipid transfer domain containing 8provided by HGNC Primary source HGNC:HGNC:19161 See related Ensembl:ENSG00000130052 MIM:300689; AllianceGenome:HGNC:19161 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 DLC3; ARHGAP38; STARTGAP3 Summary This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010] Expression Broad expression in kidney (RPKM 8.5), fat (RPKM 6.6) and 24 other tissues See more Orthologs mouse all
STARD9, Official Symbol STARD9provided by HGNC Official Full Name StAR related lipid transfer domain containing 9provided by HGNC Primary source HGNC:HGNC:19162 See related Ensembl:ENSG00000159433 MIM:614642; AllianceGenome:HGNC:19162 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 KIF16A Summary Enables microtubule binding activity and microtubule motor activity. Involved in spindle assembly. Located in centriole; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 7.1), ovary (RPKM 3.6) and 22 other tissues See more Orthologs mouse all
STARP1, Official Symbol STARP1provided by HGNC Official Full Name steroidogenic acute regulatory protein pseudogene 1provided by HGNC Primary source HGNC:HGNC:11360 See related AllianceGenome:HGNC:11360 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as STARD1P1
STAT1, Official Symbol STAT1provided by HGNC Official Full Name signal transducer and activator of transcription 1provided by HGNC Primary source HGNC:HGNC:11362 See related Ensembl:ENSG00000115415 MIM:600555; AllianceGenome:HGNC:11362 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 CANDF7; IMD31A; IMD31B; IMD31C; ISGF-3; STAT91 Summary The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in lymph node (RPKM 79.1), appendix (RPKM 72.6) and 25 other tissues See more Orthologs mouse all
STAT2, Official Symbol STAT2provided by HGNC Official Full Name signal transducer and activator of transcription 2provided by HGNC Primary source HGNC:HGNC:11363 See related Ensembl:ENSG00000170581 MIM:600556; AllianceGenome:HGNC:11363 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 P113; IMD44; ISGF-3; PTORCH3; STAT113 Summary The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in spleen (RPKM 31.9), appendix (RPKM 25.0) and 25 other tissues See more Orthologs mouse all
STAT3, Official Symbol STAT3provided by HGNC Official Full Name signal transducer and activator of transcription 3provided by HGNC Primary source HGNC:HGNC:11364 See related Ensembl:ENSG00000168610 MIM:102582; AllianceGenome:HGNC:11364 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 APRF; HIES; ADMIO; ADMIO1 Summary The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in gall bladder (RPKM 47.5), lung (RPKM 47.3) and 25 other tissues See more Orthologs mouse all
STAT4, Official Symbol STAT4provided by HGNC Official Full Name signal transducer and activator of transcription 4provided by HGNC Primary source HGNC:HGNC:11365 See related Ensembl:ENSG00000138378 MIM:600558; AllianceGenome:HGNC:11365 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 DPMC; SLEB11 Summary The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011] Expression Broad expression in testis (RPKM 9.8), lymph node (RPKM 6.0) and 17 other tissues See more Orthologs mouse all
STAT5A, Official Symbol STAT5Aprovided by HGNC Official Full Name signal transducer and activator of transcription 5Aprovided by HGNC Primary source HGNC:HGNC:11366 See related Ensembl:ENSG00000126561 MIM:601511; AllianceGenome:HGNC:11366 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 MGF; STAT5 Summary The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013] Expression Broad expression in fat (RPKM 52.7), bone marrow (RPKM 20.9) and 22 other tissues See more Orthologs mouse all
STAT5B, Official Symbol STAT5Bprovided by HGNC Official Full Name signal transducer and activator of transcription 5Bprovided by HGNC Primary source HGNC:HGNC:11367 See related Ensembl:ENSG00000173757 MIM:604260; AllianceGenome:HGNC:11367 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 STAT5; GHISID2 Summary The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 26.3), ovary (RPKM 25.7) and 25 other tissues See more Orthologs mouse all
STAT6, Official Symbol STAT6provided by HGNC Official Full Name signal transducer and activator of transcription 6provided by HGNC Primary source HGNC:HGNC:11368 See related Ensembl:ENSG00000166888 MIM:601512; AllianceGenome:HGNC:11368 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 STAT6B; STAT6C; D12S1644; IL-4-STAT Summary The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] Expression Ubiquitous expression in spleen (RPKM 48.4), skin (RPKM 47.3) and 25 other tissues See more Orthologs mouse all
STATH, Official Symbol STATHprovided by HGNC Official Full Name statherinprovided by HGNC Primary source HGNC:HGNC:11369 See related Ensembl:ENSG00000126549 MIM:184470; AllianceGenome:HGNC:11369 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 STR Summary Predicted to be involved in ossification. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward salivary gland (RPKM 34203.8) See more Orthologs all
STAU1, Official Symbol STAU1provided by HGNC Official Full Name staufen double-stranded RNA binding protein 1provided by HGNC Primary source HGNC:HGNC:11370 See related Ensembl:ENSG00000124214 MIM:601716; AllianceGenome:HGNC:11370 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 STAU; PPP1R150 Summary Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. [provided by RefSeq, Apr 2020] Expression Ubiquitous expression in kidney (RPKM 41.4), thyroid (RPKM 35.8) and 25 other tissues See more Orthologs mouse all
STAU2, Official Symbol STAU2provided by HGNC Official Full Name staufen double-stranded RNA binding protein 2provided by HGNC Primary source HGNC:HGNC:11371 See related Ensembl:ENSG00000040341 MIM:605920; AllianceGenome:HGNC:11371 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 39K2; 39K3 Summary Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009] Expression Ubiquitous expression in brain (RPKM 12.9), heart (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
STAU2-AS1, Official Symbol STAU2-AS1provided by HGNC Official Full Name STAU2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44101 See related Ensembl:ENSG00000253302 AllianceGenome:HGNC:44101 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
STBD1, Official Symbol STBD1provided by HGNC Official Full Name starch binding domain 1provided by HGNC Primary source HGNC:HGNC:24854 See related Ensembl:ENSG00000118804 MIM:607406; AllianceGenome:HGNC:24854 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 GENEX3414; GENX-3414 Summary Enables enzyme binding activity and glycogen binding activity. Involved in glycophagy and intracellular transport. Located in T-tubule; endoplasmic reticulum; and perinuclear region of cytoplasm. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 72.0), liver (RPKM 33.4) and 18 other tissues See more Orthologs mouse all