psui3905/ncbi_genes_summary huggingface dataset:
EML6, Official Symbol EML6provided by HGNC Official Full Name EMAP like 6provided by HGNC Primary source HGNC:HGNC:35412 See related Ensembl:ENSG00000214595 AllianceGenome:HGNC:35412 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable microtubule binding activity. Predicted to be located in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 28.9), adrenal (RPKM 17.8) and 24 other tissues See more Orthologs mouse all
EMP1, Official Symbol EMP1provided by HGNC Official Full Name epithelial membrane protein 1provided by HGNC Primary source HGNC:HGNC:3333 See related Ensembl:ENSG00000134531 MIM:602333; AllianceGenome:HGNC:3333 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 TMP; CL-20; EMP-1 Summary Involved in bleb assembly and cell death. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 1426.7), gall bladder (RPKM 194.7) and 2 other tissues See more Orthologs mouse all
EMP2, Official Symbol EMP2provided by HGNC Official Full Name epithelial membrane protein 2provided by HGNC Primary source HGNC:HGNC:3334 See related Ensembl:ENSG00000213853 MIM:602334; AllianceGenome:HGNC:3334 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 XMP Summary This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015] Expression Biased expression in lung (RPKM 155.3), skin (RPKM 53.3) and 9 other tissues See more Orthologs mouse all
EMP3, Official Symbol EMP3provided by HGNC Official Full Name epithelial membrane protein 3provided by HGNC Primary source HGNC:HGNC:3335 See related Ensembl:ENSG00000142227 MIM:602335; AllianceGenome:HGNC:3335 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 YMP Summary The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in bone marrow (RPKM 63.7), appendix (RPKM 40.0) and 24 other tissues See more Orthologs mouse all
EMSY, Official Symbol EMSYprovided by HGNC Official Full Name EMSY transcriptional repressor, BRCA2 interactingprovided by HGNC Primary source HGNC:HGNC:18071 See related Ensembl:ENSG00000158636 MIM:608574; AllianceGenome:HGNC:18071 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 GL002; C11orf30 Summary Predicted to enable identical protein binding activity. Predicted to be involved in DNA repair; chromatin organization; and regulation of transcription, DNA-templated. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.2), ovary (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
EMX1, Official Symbol EMX1provided by HGNC Official Full Name empty spiracles homeobox 1provided by HGNC Primary source HGNC:HGNC:3340 See related Ensembl:ENSG00000135638 MIM:600034; AllianceGenome:HGNC:3340 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in brain development; neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; neuroepithelial cell differentiation; and regulation of oligodendrocyte progenitor proliferation. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 6.4), brain (RPKM 1.7) and 1 other tissue See more Orthologs mouse all
EMX2, Official Symbol EMX2provided by HGNC Official Full Name empty spiracles homeobox 2provided by HGNC Primary source HGNC:HGNC:3341 See related Ensembl:ENSG00000170370 MIM:600035; AllianceGenome:HGNC:3341 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 homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009] Expression Biased expression in endometrium (RPKM 36.5), kidney (RPKM 19.4) and 4 other tissues See more Orthologs mouse all
EMX2OS, Official Symbol EMX2OSprovided by HGNC Official Full Name EMX2 opposite strand/antisense RNAprovided by HGNC Primary source HGNC:HGNC:18511 See related Ensembl:ENSG00000229847 MIM:607637; AllianceGenome:HGNC:18511 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 EMX2-AS1; NCRNA00045 Expression Biased expression in endometrium (RPKM 16.5), kidney (RPKM 12.5) and 5 other tissues See more Orthologs mouse all
EN1, Official Symbol EN1provided by HGNC Official Full Name engrailed homeobox 1provided by HGNC Primary source HGNC:HGNC:3342 See related Ensembl:ENSG00000163064 MIM:131290; AllianceGenome:HGNC:3342 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 ENDOVESLB Summary Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
EN2, Official Symbol EN2provided by HGNC Official Full Name engrailed homeobox 2provided by HGNC Primary source HGNC:HGNC:3343 See related Ensembl:ENSG00000164778 MIM:131310; AllianceGenome:HGNC:3343 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 Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
ENAH, Official Symbol ENAHprovided by HGNC Official Full Name ENAH actin regulatorprovided by HGNC Primary source HGNC:HGNC:18271 See related Ensembl:ENSG00000154380 MIM:609061; AllianceGenome:HGNC:18271 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 ENA; MENA; NDPP1 Summary This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in gall bladder (RPKM 8.3), prostate (RPKM 7.8) and 24 other tissues See more Orthologs mouse all
ENAM, Official Symbol ENAMprovided by HGNC Official Full Name enamelinprovided by HGNC Primary source HGNC:HGNC:3344 See related Ensembl:ENSG00000132464 MIM:606585; AllianceGenome:HGNC:3344 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 ADAI; AI1C; AIH2 Summary Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009] Expression Biased expression in kidney (RPKM 2.0), heart (RPKM 1.3) and 5 other tissues See more Orthologs mouse all
ENC1, Official Symbol ENC1provided by HGNC Official Full Name ectodermal-neural cortex 1provided by HGNC Primary source HGNC:HGNC:3345 See related Ensembl:ENSG00000171617 MIM:605173; AllianceGenome:HGNC:3345 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 NRPB; CCL28; ENC-1; PIG10; KLHL35; KLHL37; TP53I10 Summary This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012] Expression Biased expression in brain (RPKM 180.1), gall bladder (RPKM 11.8) and 4 other tissues See more Orthologs mouse all
ENDOD1, Official Symbol ENDOD1provided by HGNC Official Full Name endonuclease domain containing 1provided by HGNC Primary source HGNC:HGNC:29129 See related Ensembl:ENSG00000149218 MIM:619568; AllianceGenome:HGNC:29129 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable endonuclease activity; metal ion binding activity; and nucleic acid binding activity. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 33.4), brain (RPKM 27.7) and 24 other tissues See more Orthologs mouse all
ENDOG, Official Symbol ENDOGprovided by HGNC Official Full Name endonuclease Gprovided by HGNC Primary source HGNC:HGNC:3346 See related Ensembl:ENSG00000167136 MIM:600440; AllianceGenome:HGNC:3346 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 The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 10.6), prostate (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
ENDOU, Official Symbol ENDOUprovided by HGNC Official Full Name endonuclease, poly(U) specificprovided by HGNC Primary source HGNC:HGNC:14369 See related Ensembl:ENSG00000111405 MIM:606720; AllianceGenome:HGNC:14369 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 P11; PP11; PRSS26 Summary This gene encodes a protein with endoribonuclease activity that binds polyuridine-enriched single-stranded RNA. This gene was initially characterized based on its high expression in placenta but was mischaracterized as a serine protease. In mouse, this gene promotes tolerance to self-antigens by regulating B cell activation-induced cell death (AICD). The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2020] Expression Biased expression in esophagus (RPKM 34.0), skin (RPKM 9.4) and 1 other tissue See more Orthologs mouse all
ENDOV, Official Symbol ENDOVprovided by HGNC Official Full Name endonuclease Vprovided by HGNC Primary source HGNC:HGNC:26640 See related Ensembl:ENSG00000173818 MIM:619821; AllianceGenome:HGNC:26640 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables DNA binding activity; endoribonuclease activity, producing 5'-phosphomonoesters; and single-stranded RNA binding activity. Predicted to be involved in DNA repair. Located in cytoplasmic stress granule and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.1), prostate (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
ENG, Official Symbol ENGprovided by HGNC Official Full Name endoglinprovided by HGNC Primary source HGNC:HGNC:3349 See related Ensembl:ENSG00000106991 MIM:131195; AllianceGenome:HGNC:3349 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 END; HHT1; ORW1 Summary This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013] Expression Broad expression in spleen (RPKM 69.2), lung (RPKM 66.7) and 24 other tissues See more Orthologs mouse all
ENGASE, Official Symbol ENGASEprovided by HGNC Official Full Name endo-beta-N-acetylglucosaminidaseprovided by HGNC Primary source HGNC:HGNC:24622 See related Ensembl:ENSG00000167280 MIM:611898; AllianceGenome:HGNC:24622 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 This gene encodes a cytosolic enzyme which catalyzes the hydrolysis of peptides and proteins with mannose modifications to produce free oligosaccharides. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in spleen (RPKM 23.3), duodenum (RPKM 12.9) and 24 other tissues See more Orthologs mouse all
ENHO, Official Symbol ENHOprovided by HGNC Official Full Name energy homeostasis associatedprovided by HGNC Primary source HGNC:HGNC:24838 See related Ensembl:ENSG00000168913 MIM:618556; AllianceGenome:HGNC:24838 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 UNQ470; C9orf165 Summary Predicted to enable hormone activity. Predicted to be involved in positive regulation of Notch signaling pathway. Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 43.8), testis (RPKM 5.1) and 1 other tissue See more Orthologs mouse all
ENKD1, Official Symbol ENKD1provided by HGNC Official Full Name enkurin domain containing 1provided by HGNC Primary source HGNC:HGNC:25246 See related Ensembl:ENSG00000124074 AllianceGenome:HGNC:25246 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 FBB11; C16orf48; DAKV6410 Summary Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 10.0), kidney (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
ENKUR, Official Symbol ENKURprovided by HGNC Official Full Name enkurin, TRPC channel interacting proteinprovided by HGNC Primary source HGNC:HGNC:28388 See related Ensembl:ENSG00000151023 MIM:611025; AllianceGenome:HGNC:28388 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 CFAP106; C10orf63 Summary This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] Expression Biased expression in brain (RPKM 2.4), testis (RPKM 1.9) and 7 other tissues See more Orthologs mouse all
ENO1, Official Symbol ENO1provided by HGNC Official Full Name enolase 1provided by HGNC Primary source HGNC:HGNC:3350 See related Ensembl:ENSG00000074800 MIM:172430; AllianceGenome:HGNC:3350 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 NNE; PPH; MPB1; ENO1L1; ENO1-IT1; HEL-S-17 Summary This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in kidney (RPKM 213.0), esophagus (RPKM 188.5) and 25 other tissues See more Orthologs mouse all
ENO1-AS1, Official Symbol ENO1-AS1provided by HGNC Official Full Name ENO1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40214 See related Ensembl:ENSG00000230679 AllianceGenome:HGNC:40214 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 testis (RPKM 6.9), fat (RPKM 1.2) and 9 other tissues See more
ENO1P1, Official Symbol ENO1P1provided by HGNC Official Full Name enolase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:3352 See related Ensembl:ENSG00000244457 AllianceGenome:HGNC:3352 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 ENO1P
ENO1P3, Official Symbol ENO1P3provided by HGNC Official Full Name enolase 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:37944 See related Ensembl:ENSG00000243986 AllianceGenome:HGNC:37944 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENO2, Official Symbol ENO2provided by HGNC Official Full Name enolase 2provided by HGNC Primary source HGNC:HGNC:3353 See related Ensembl:ENSG00000111674 MIM:131360; AllianceGenome:HGNC:3353 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 NSE; HEL-S-279 Summary This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 167.6), adrenal (RPKM 26.3) and 9 other tissues See more Orthologs mouse all
ENO3, Official Symbol ENO3provided by HGNC Official Full Name enolase 3provided by HGNC Primary source HGNC:HGNC:3354 See related Ensembl:ENSG00000108515 MIM:131370; AllianceGenome:HGNC:3354 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 MSE; GSD13 Summary This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010] Expression Biased expression in heart (RPKM 88.5), esophagus (RPKM 45.6) and 2 other tissues See more Orthologs mouse all
ENO4, Official Symbol ENO4provided by HGNC Official Full Name enolase 4provided by HGNC Primary source HGNC:HGNC:31670 See related Ensembl:ENSG00000188316 MIM:131375; AllianceGenome:HGNC:31670 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 ENOS; C10orf134 Summary Predicted to enable phosphopyruvate hydratase activity. Predicted to be involved in glycolytic process and regulation of vacuole fusion, non-autophagic. Predicted to act upstream of or within cilium organization and flagellated sperm motility. Predicted to be located in sperm principal piece. Predicted to be part of phosphopyruvate hydratase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
ENOPH1, Official Symbol ENOPH1provided by HGNC Official Full Name enolase-phosphatase 1provided by HGNC Primary source HGNC:HGNC:24599 See related Ensembl:ENSG00000145293 AllianceGenome:HGNC:24599 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 E1; MASA; mtnC; MST145 Summary Enables acireductone synthase activity. Involved in L-methionine salvage from methylthioadenosine. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 34.5), thyroid (RPKM 16.6) and 25 other tissues See more Orthologs mouse all
ENOSF1, Official Symbol ENOSF1provided by HGNC Official Full Name enolase superfamily member 1provided by HGNC Primary source HGNC:HGNC:30365 See related Ensembl:ENSG00000132199 MIM:607427; AllianceGenome:HGNC:30365 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 RTS; FUCD; TYMSAS Summary This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in bone marrow (RPKM 9.5), kidney (RPKM 9.5) and 25 other tissues See more Orthologs all
ENOX1, Official Symbol ENOX1provided by HGNC Official Full Name ecto-NOX disulfide-thiol exchanger 1provided by HGNC Primary source HGNC:HGNC:25474 See related Ensembl:ENSG00000120658 MIM:610914; AllianceGenome:HGNC:25474 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 CNOX; PIG38; cCNOX; bA64J21.1 Summary The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016] Expression Broad expression in testis (RPKM 1.9), brain (RPKM 1.3) and 19 other tissues See more Orthologs mouse all
ENOX2, Official Symbol ENOX2provided by HGNC Official Full Name ecto-NOX disulfide-thiol exchanger 2provided by HGNC Primary source HGNC:HGNC:2259 See related Ensembl:ENSG00000165675 MIM:300282; AllianceGenome:HGNC:2259 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 APK1; tNOX; COVA1 Summary This gene is a tumor-specific member of the ECTO-NOX family of genes that encode cell surface NADH oxidases. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The protein also displays prion-like properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in adrenal (RPKM 2.9), lymph node (RPKM 2.8) and 25 other tissues See more Orthologs mouse all
ENPEP, Official Symbol ENPEPprovided by HGNC Official Full Name glutamyl aminopeptidaseprovided by HGNC Primary source HGNC:HGNC:3355 See related Ensembl:ENSG00000138792 MIM:138297; AllianceGenome:HGNC:3355 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 APA; CD249; gp160 Summary The ENPEP gene encodes glutamyl aminopeptidase, a type II integral membrane protein with an extracellular zinc-binding domain. This protein can upregulate blood pressure by cleaving the N-terminal aspartate from angiotensin II, and can regulate blood vessel formation and enhance tumorigenesis in some tissues. Along with ANPEP and DPP4, ENPEP was found to be a candidate co-receptor for the coronavirus SARS-CoV-2, which causes COVID-19. [provided by RefSeq, Apr 2020] Expression Biased expression in small intestine (RPKM 132.9), kidney (RPKM 71.6) and 5 other tissues See more Orthologs mouse all
ENPP1, Official Symbol ENPP1provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 1provided by HGNC Primary source HGNC:HGNC:3356 See related Ensembl:ENSG00000197594 MIM:173335; AllianceGenome:HGNC:3356 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 M6S1; NPP1; NPPS; PC-1; PCA1; ARHR2; COLED; PDNP1 Summary This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 22.6), thyroid (RPKM 14.0) and 13 other tissues See more Orthologs mouse all
ENPP2, Official Symbol ENPP2provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 2provided by HGNC Primary source HGNC:HGNC:3357 See related Ensembl:ENSG00000136960 MIM:601060; AllianceGenome:HGNC:3357 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 ATX; NPP2; ATX-X; PDNP2; LysoPLD; AUTOTAXIN; PD-IALPHA Summary The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008] Expression Broad expression in placenta (RPKM 83.1), brain (RPKM 52.1) and 18 other tissues See more Orthologs mouse all
ENPP3, Official Symbol ENPP3provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 3provided by HGNC Primary source HGNC:HGNC:3358 See related Ensembl:ENSG00000154269 MIM:602182; AllianceGenome:HGNC:3358 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 B10; NPP3; PDNP3; CD203c; PD-IBETA Summary The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015] Expression Biased expression in small intestine (RPKM 19.6), duodenum (RPKM 6.7) and 6 other tissues See more Orthologs mouse all
ENPP4, Official Symbol ENPP4provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 4provided by HGNC Primary source HGNC:HGNC:3359 See related Ensembl:ENSG00000001561 MIM:617000; AllianceGenome:HGNC:3359 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 NPP4 Summary Enables bis(5'-adenosyl)-triphosphatase activity. Involved in positive regulation of blood coagulation and purine ribonucleoside catabolic process. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 15.7), brain (RPKM 14.1) and 24 other tissues See more Orthologs mouse all
ENPP5, Official Symbol ENPP5provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase family member 5provided by HGNC Primary source HGNC:HGNC:13717 See related Ensembl:ENSG00000112796 MIM:617001; AllianceGenome:HGNC:13717 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 NPP5; NPP-5 Summary This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014] Expression Biased expression in thyroid (RPKM 24.6), testis (RPKM 20.9) and 13 other tissues See more Orthologs mouse all
ENPP6, Official Symbol ENPP6provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 6provided by HGNC Primary source HGNC:HGNC:23409 See related Ensembl:ENSG00000164303 MIM:616983; AllianceGenome:HGNC:23409 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 NPP6 Summary Enables glycerophosphocholine cholinephosphodiesterase activity. Involved in choline metabolic process and lipid metabolic process. Located in extracellular region and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 13.7), ovary (RPKM 7.0) and 5 other tissues See more Orthologs mouse all
ENPP7, Official Symbol ENPP7provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7provided by HGNC Primary source HGNC:HGNC:23764 See related Ensembl:ENSG00000182156 MIM:616997; AllianceGenome:HGNC:23764 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 NPP7; NPP-7; E-NPP 7; ALK-SMase Summary The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016] Expression Biased expression in small intestine (RPKM 36.1), duodenum (RPKM 15.1) and 1 other tissue See more Orthologs mouse all
ENPP7P1, Official Symbol ENPP7P1provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 1provided by HGNC Primary source HGNC:HGNC:48699 See related Ensembl:ENSG00000249188 AllianceGenome:HGNC:48699 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P10, Official Symbol ENPP7P10provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 10provided by HGNC Primary source HGNC:HGNC:48693 See related Ensembl:ENSG00000249767 AllianceGenome:HGNC:48693 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P11, Official Symbol ENPP7P11provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 11provided by HGNC Primary source HGNC:HGNC:48694 See related Ensembl:ENSG00000250942 AllianceGenome:HGNC:48694 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P12, Official Symbol ENPP7P12provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 12provided by HGNC Primary source HGNC:HGNC:48697 See related Ensembl:ENSG00000254527 AllianceGenome:HGNC:48697 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P14, Official Symbol ENPP7P14provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 14provided by HGNC Primary source HGNC:HGNC:51387 See related Ensembl:ENSG00000273963 AllianceGenome:HGNC:51387 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P2, Official Symbol ENPP7P2provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 2provided by HGNC Primary source HGNC:HGNC:48685 See related Ensembl:ENSG00000239959 AllianceGenome:HGNC:48685 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P3, Official Symbol ENPP7P3provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 3provided by HGNC Primary source HGNC:HGNC:48686 See related Ensembl:ENSG00000248618 AllianceGenome:HGNC:48686 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P4, Official Symbol ENPP7P4provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 4provided by HGNC Primary source HGNC:HGNC:48687 See related Ensembl:ENSG00000241278 AllianceGenome:HGNC:48687 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P6, Official Symbol ENPP7P6provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 6provided by HGNC Primary source HGNC:HGNC:48698 See related Ensembl:ENSG00000255549 AllianceGenome:HGNC:48698 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P7, Official Symbol ENPP7P7provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 7provided by HGNC Primary source HGNC:HGNC:48690 See related Ensembl:ENSG00000273819 AllianceGenome:HGNC:48690 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P8, Official Symbol ENPP7P8provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 8provided by HGNC Primary source HGNC:HGNC:48691 See related Ensembl:ENSG00000255319 AllianceGenome:HGNC:48691 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENPP7P9, Official Symbol ENPP7P9provided by HGNC Official Full Name ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 9provided by HGNC Primary source HGNC:HGNC:48692 See related Ensembl:ENSG00000250476 AllianceGenome:HGNC:48692 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ENSA, Official Symbol ENSAprovided by HGNC Official Full Name endosulfine alphaprovided by HGNC Primary source HGNC:HGNC:3360 See related Ensembl:ENSG00000143420 MIM:603061; AllianceGenome:HGNC:3360 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 ARPP-19e Summary The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 40.0), esophagus (RPKM 33.5) and 25 other tissues See more Orthologs mouse all
ENSAP1, Official Symbol ENSAP1provided by HGNC Official Full Name endosulfine alpha pseudogene 1provided by HGNC Primary source HGNC:HGNC:16588 See related Ensembl:ENSG00000224274 AllianceGenome:HGNC:16588 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 ENSAP; dJ822J19.1
ENSG00000000003, Official Symbol TSPAN6provided by HGNC Official Full Name tetraspanin 6provided by HGNC Primary source HGNC:HGNC:11858 See related Ensembl:ENSG00000000003 MIM:300191; AllianceGenome:HGNC:11858 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 T245; TM4SF6; TSPAN-6 Summary The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in colon (RPKM 15.1), ovary (RPKM 15.0) and 24 other tissues See more Orthologs mouse all