psui3905/ncbi_genes_summary huggingface dataset:
ENSG00000000005, Official Symbol TNMDprovided by HGNC Official Full Name tenomodulinprovided by HGNC Primary source HGNC:HGNC:17757 See related Ensembl:ENSG00000000005 MIM:300459; AllianceGenome:HGNC:17757 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 TEM; CHM1L; BRICD4 Summary This gene encodes a protein that is related to chondromodulin-I, which is a cartilage-specific glycoprotein that functions to stimulate chondrocyte growth and to inhibit tube formation of endothelial cells. This protein is also an angiogenesis inhibitor. Genetic variation in this gene is associated with a risk for type 2 diabetes, central obesity and serum levels of systemic immune mediators in a body size-dependent manner. This gene is also a candidate gene for age-related macular degeneration, though a direct link has yet to be demonstrated. [provided by RefSeq, Sep 2009] Expression Biased expression in fat (RPKM 8.0), placenta (RPKM 1.2) and 2 other tissues See more Orthologs mouse all
ENTHD1, Official Symbol ENTHD1provided by HGNC Official Full Name ENTH domain containing 1provided by HGNC Primary source HGNC:HGNC:26352 See related Ensembl:ENSG00000176177 AllianceGenome:HGNC:26352 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 CACNA1I; dJ370M22.3 Summary Predicted to enable clathrin binding activity and phospholipid binding activity. Predicted to be involved in endocytosis. Predicted to be part of clathrin vesicle coat. Predicted to be active in endosome and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 4.5) See more Orthologs mouse all
ENTPD1, Official Symbol ENTPD1provided by HGNC Official Full Name ectonucleoside triphosphate diphosphohydrolase 1provided by HGNC Primary source HGNC:HGNC:3363 See related Ensembl:ENSG00000138185 MIM:601752; AllianceGenome:HGNC:3363 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 CD39; SPG64; ATPDase; NTPDase-1 Summary The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in urinary bladder (RPKM 6.1), appendix (RPKM 5.8) and 24 other tissues See more Orthologs mouse all
ENTPD1-AS1, Official Symbol ENTPD1-AS1provided by HGNC Official Full Name ENTPD1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:45203 See related Ensembl:ENSG00000226688 AllianceGenome:HGNC:45203 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in small intestine (RPKM 2.3), fat (RPKM 2.0) and 23 other tissues See more
ENTPD2, Official Symbol ENTPD2provided by HGNC Official Full Name ectonucleoside triphosphate diphosphohydrolase 2provided by HGNC Primary source HGNC:HGNC:3364 See related Ensembl:ENSG00000054179 MIM:602012; AllianceGenome:HGNC:3364 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 CD39L1; NTPDase-2 Summary The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Broad expression in duodenum (RPKM 4.7), prostate (RPKM 4.6) and 17 other tissues See more Orthologs mouse all
ENTPD3, Official Symbol ENTPD3provided by HGNC Official Full Name ectonucleoside triphosphate diphosphohydrolase 3provided by HGNC Primary source HGNC:HGNC:3365 See related Ensembl:ENSG00000168032 MIM:603161; AllianceGenome:HGNC:3365 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 HB6; CD39L3; NTPDase-3 Summary This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014] Expression Broad expression in urinary bladder (RPKM 4.1), thyroid (RPKM 2.0) and 20 other tissues See more Orthologs mouse all
ENTPD3-AS1, Official Symbol ENTPD3-AS1provided by HGNC Official Full Name ENTPD3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:26710 See related Ensembl:ENSG00000223797 AllianceGenome:HGNC:26710 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
ENTPD4, Official Symbol ENTPD4provided by HGNC Official Full Name ectonucleoside triphosphate diphosphohydrolase 4provided by HGNC Primary source HGNC:HGNC:14573 See related Ensembl:ENSG00000197217 MIM:607577; AllianceGenome:HGNC:14573 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 LAP70; LALP70; LYSAL1; UDPase; NTPDase-4 Summary This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in lymph node (RPKM 16.0), appendix (RPKM 14.8) and 25 other tissues See more Orthologs all
ENTPD5, Official Symbol ENTPD5provided by HGNC Official Full Name ectonucleoside triphosphate diphosphohydrolase 5 (inactive)provided by HGNC Primary source HGNC:HGNC:3367 See related Ensembl:ENSG00000187097 MIM:603162; AllianceGenome:HGNC:3367 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 PCPH; CD39L4; NTPDase-5 Summary The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009] Expression Broad expression in liver (RPKM 43.1), colon (RPKM 29.4) and 18 other tissues See more Orthologs mouse all
ENTPD6, Official Symbol ENTPD6provided by HGNC Official Full Name ectonucleoside triphosphate diphosphohydrolase 6provided by HGNC Primary source HGNC:HGNC:3368 See related Ensembl:ENSG00000197586 MIM:603160; AllianceGenome:HGNC:3368 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 CD39L2; IL6ST2; IL-6SAG; NTPDase-6; dJ738P15.3 Summary ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in prostate (RPKM 15.7), colon (RPKM 15.3) and 25 other tissues See more Orthologs mouse all
ENTPD7, Official Symbol ENTPD7provided by HGNC Official Full Name ectonucleoside triphosphate diphosphohydrolase 7provided by HGNC Primary source HGNC:HGNC:19745 See related Ensembl:ENSG00000198018 MIM:616753; AllianceGenome:HGNC:19745 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 LALP1 Summary This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside triphosphates (UTP, GTP, and CTP) to nucleoside monophosphates as part of a purinergic signaling pathway. It contains two transmembrane domains at the N- and C-termini and a large, hydrophobic catalytic domain located in between. This gene affects oxidative stress as well as DNA damage and is a mediator of senescence. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in small intestine (RPKM 8.2), duodenum (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
ENTPD8, Official Symbol ENTPD8provided by HGNC Official Full Name ectonucleoside triphosphate diphosphohydrolase 8provided by HGNC Primary source HGNC:HGNC:24860 See related Ensembl:ENSG00000188833 MIM:616748; AllianceGenome:HGNC:24860 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 UNQ2492; GLSR2492; E-NTPDase; NTPDase-8 Summary Predicted to enable guanosine-diphosphatase activity and uridine-diphosphatase activity. Predicted to be involved in nucleoside diphosphate catabolic process. Predicted to act upstream of or within nucleoside diphosphate biosynthetic process and nucleoside monophosphate biosynthetic process. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 14.4), duodenum (RPKM 11.4) and 6 other tissues See more Orthologs mouse all
ENTR1, Official Symbol ENTR1provided by HGNC Official Full Name endosome associated trafficking regulator 1provided by HGNC Primary source HGNC:HGNC:10667 See related Ensembl:ENSG00000165689 MIM:618289; AllianceGenome:HGNC:10667 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 SDDAG3; NY-CO-3; SDCCAG3 Summary Involved in several processes, including endocytic recycling; positive regulation of cilium assembly; and positive regulation of protein localization to cilium. Located in endosome; microtubule organizing center; and midbody. Colocalizes with retromer complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.4), lymph node (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
ENY2, Official Symbol ENY2provided by HGNC Official Full Name ENY2 transcription and export complex 2 subunitprovided by HGNC Primary source HGNC:HGNC:24449 See related Ensembl:ENSG00000120533 MIM:619015; AllianceGenome:HGNC:24449 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 DC6; Sus1; e(y)2 Summary Enables nuclear receptor coactivator activity. Involved in histone deubiquitination; poly(A)+ mRNA export from nucleus; and positive regulation of transcription, DNA-templated. Located in mitochondrion and nucleoplasm. Part of nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 15.2), bone marrow (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
EOGT, Official Symbol EOGTprovided by HGNC Official Full Name EGF domain specific O-linked N-acetylglucosamine transferaseprovided by HGNC Primary source HGNC:HGNC:28526 See related Ensembl:ENSG00000163378 MIM:614789; AllianceGenome:HGNC:28526 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 AOS4; AER61; EOGT1; C3orf64 Summary This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in lung (RPKM 8.1), prostate (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
EOLA1, Official Symbol EOLA1provided by HGNC Official Full Name endothelium and lymphocyte associated ASCH domain 1provided by HGNC Primary source HGNC:HGNC:28089 See related Ensembl:ENSG00000197620 MIM:300954; AllianceGenome:HGNC:28089 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 CXorf40; CXorf40A Summary Involved in regulation of interleukin-6 production. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 8.2), bone marrow (RPKM 2.5) and 25 other tissues See more Orthologs all
EOLA2, Official Symbol EOLA2provided by HGNC Official Full Name endothelium and lymphocyte associated ASCH domain 2provided by HGNC Primary source HGNC:HGNC:17402 See related Ensembl:ENSG00000197021 AllianceGenome:HGNC:17402 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 CXorf40B Expression Ubiquitous expression in adrenal (RPKM 9.8), placenta (RPKM 4.0) and 25 other tissues See more Orthologs all
EOMES, Official Symbol EOMESprovided by HGNC Official Full Name eomesoderminprovided by HGNC Primary source HGNC:HGNC:3372 See related Ensembl:ENSG00000163508 MIM:604615; AllianceGenome:HGNC:3372 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 TBR2 Summary This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Biased expression in lymph node (RPKM 5.9), spleen (RPKM 5.3) and 10 other tissues See more Orthologs mouse all
EP300, Official Symbol EP300provided by HGNC Official Full Name E1A binding protein p300provided by HGNC Primary source HGNC:HGNC:3373 See related Ensembl:ENSG00000100393 MIM:602700; AllianceGenome:HGNC:3373 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 p300; KAT3B; MKHK2; RSTS2 Summary This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 27.3), testis (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
EP400, Official Symbol EP400provided by HGNC Official Full Name E1A binding protein p400provided by HGNC Primary source HGNC:HGNC:11958 See related Ensembl:ENSG00000183495 MIM:606265; AllianceGenome:HGNC:11958 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 P400; CAGH32; TNRC12 Summary Predicted to enable several functions, including ATP binding activity; ATP-dependent chromatin remodeler activity; and protein antigen binding activity. Involved in histone H2A acetylation and histone H4 acetylation. Part of NuA4 histone acetyltransferase complex and Swr1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 8.1), ovary (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
EPAS1, Official Symbol EPAS1provided by HGNC Official Full Name endothelial PAS domain protein 1provided by HGNC Primary source HGNC:HGNC:3374 See related Ensembl:ENSG00000116016 MIM:603349; AllianceGenome:HGNC:3374 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 HLF; MOP2; ECYT4; HIF2A; PASD2; bHLHe73 Summary This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009] Expression Broad expression in lung (RPKM 304.3), placenta (RPKM 244.1) and 22 other tissues See more Orthologs mouse all
EPB41, Official Symbol EPB41provided by HGNC Official Full Name erythrocyte membrane protein band 4.1provided by HGNC Primary source HGNC:HGNC:3377 See related Ensembl:ENSG00000159023 MIM:130500; AllianceGenome:HGNC:3377 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 HE; EL1; 4.1R Summary The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in bone marrow (RPKM 9.2), lymph node (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
EPB41L1, Official Symbol EPB41L1provided by HGNC Official Full Name erythrocyte membrane protein band 4.1 like 1provided by HGNC Primary source HGNC:HGNC:3378 See related Ensembl:ENSG00000088367 MIM:602879; AllianceGenome:HGNC:3378 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 4.1N; MRD11 Summary Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015] Expression Broad expression in brain (RPKM 24.1), adrenal (RPKM 21.5) and 21 other tissues See more Orthologs mouse all
EPB41L2, Official Symbol EPB41L2provided by HGNC Official Full Name erythrocyte membrane protein band 4.1 like 2provided by HGNC Primary source HGNC:HGNC:3379 See related Ensembl:ENSG00000079819 MIM:603237; AllianceGenome:HGNC:3379 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 4.1G; 4.1-G Summary Predicted to enable PH domain binding activity; cytoskeletal protein binding activity; and structural molecule activity. Involved in positive regulation of protein localization to cell cortex. Located in cell junction; nucleoplasm; and plasma membrane. Colocalizes with COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 33.9), ovary (RPKM 23.5) and 23 other tissues See more Orthologs mouse all
EPB41L3, Official Symbol EPB41L3provided by HGNC Official Full Name erythrocyte membrane protein band 4.1 like 3provided by HGNC Primary source HGNC:HGNC:3380 See related Ensembl:ENSG00000082397 MIM:605331; AllianceGenome:HGNC:3380 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 4.1B; DAL1; DAL-1 Summary Predicted to enable cytoskeletal protein-membrane anchor activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in several processes, including nervous system development; paranodal junction maintenance; and protein localization to paranode region of axon. Located in cell-cell junction and plasma membrane. Biomarker of meningioma. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 28.0), testis (RPKM 24.6) and 21 other tissues See more Orthologs mouse all
EPB41L4A, Official Symbol EPB41L4Aprovided by HGNC Official Full Name erythrocyte membrane protein band 4.1 like 4Aprovided by HGNC Primary source HGNC:HGNC:13278 See related Ensembl:ENSG00000129595 MIM:612141; AllianceGenome:HGNC:13278 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 NBL4; EPB41L4 Summary The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in gall bladder (RPKM 6.8), thyroid (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
EPB41L4A-DT, Official Symbol EPB41L4A-DTprovided by HGNC Official Full Name EPB41L4A divergent transcriptprovided by HGNC Primary source HGNC:HGNC:25643 See related Ensembl:ENSG00000278921 AllianceGenome:HGNC:25643 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 EPB41L4A-AS2
EPB41L4B, Official Symbol EPB41L4Bprovided by HGNC Official Full Name erythrocyte membrane protein band 4.1 like 4Bprovided by HGNC Primary source HGNC:HGNC:19818 See related Ensembl:ENSG00000095203 MIM:610340; AllianceGenome:HGNC:19818 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 CG1; EHM2; LULU2 Summary Predicted to be a structural constituent of cytoskeleton. Involved in several processes, including positive regulation of cell adhesion; positive regulation of keratinocyte migration; and wound healing. Acts upstream of or within actomyosin structure organization. Located in apical part of cell; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 20.8), thyroid (RPKM 15.3) and 18 other tissues See more Orthologs mouse all
EPB41L5, Official Symbol EPB41L5provided by HGNC Official Full Name erythrocyte membrane protein band 4.1 like 5provided by HGNC Primary source HGNC:HGNC:19819 See related Ensembl:ENSG00000115109 MIM:611730; AllianceGenome:HGNC:19819 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 YRT; BE37; LULU; YMO1; LULU1 Summary Predicted to enable cytoskeletal protein binding activity and protein domain specific binding activity. Predicted to be involved in actomyosin structure organization. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic foregut morphogenesis; and mesoderm morphogenesis. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 10.7), thyroid (RPKM 7.3) and 24 other tissues See more Orthologs mouse all
EPB42, Official Symbol EPB42provided by HGNC Official Full Name erythrocyte membrane protein band 4.2provided by HGNC Primary source HGNC:HGNC:3381 See related Ensembl:ENSG00000166947 MIM:177070; AllianceGenome:HGNC:3381 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 PA; SPH5 Summary Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward bone marrow (RPKM 26.6) See more Orthologs mouse all
EPC1, Official Symbol EPC1provided by HGNC Official Full Name enhancer of polycomb homolog 1provided by HGNC Primary source HGNC:HGNC:19876 See related Ensembl:ENSG00000120616 MIM:610999; AllianceGenome:HGNC:19876 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 Epl1 Summary This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in bone marrow (RPKM 17.1), ovary (RPKM 10.0) and 25 other tissues See more Orthologs mouse all
EPC2, Official Symbol EPC2provided by HGNC Official Full Name enhancer of polycomb homolog 2provided by HGNC Primary source HGNC:HGNC:24543 See related Ensembl:ENSG00000135999 MIM:611000; AllianceGenome:HGNC:24543 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 EPC-LIKE Summary Predicted to contribute to histone acetyltransferase activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be part of Piccolo NuA4 histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 10.6), endometrium (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
EPCAM, Official Symbol EPCAMprovided by HGNC Official Full Name epithelial cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:11529 See related Ensembl:ENSG00000119888 MIM:185535; AllianceGenome:HGNC:11529 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 ESA; KSA; M4S1; MK-1; DIAR5; EGP-2; EGP40; KS1/4; MIC18; TROP1; BerEp4; EGP314; HNPCC8; LYNCH8; MOC-31; Ber-Ep4; TACSTD1 Summary This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008] Expression Biased expression in colon (RPKM 501.8), small intestine (RPKM 391.0) and 9 other tissues See more Orthologs mouse all
EPCAM-DT, Official Symbol EPCAM-DTprovided by HGNC Official Full Name EPCAM divergent transcriptprovided by HGNC Primary source HGNC:HGNC:52639 See related Ensembl:ENSG00000234690 AllianceGenome:HGNC:52639 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
EPDR1, Official Symbol EPDR1provided by HGNC Official Full Name ependymin related 1provided by HGNC Primary source HGNC:HGNC:17572 See related Ensembl:ENSG00000086289 MIM:619734; AllianceGenome:HGNC:17572 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 EPDR; UCC1; MERP1; MERP-1 Summary The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011] Expression Broad expression in brain (RPKM 25.1), endometrium (RPKM 24.9) and 23 other tissues See more Orthologs mouse all
EPG5, Official Symbol EPG5provided by HGNC Official Full Name ectopic P-granules 5 autophagy tethering factorprovided by HGNC Primary source HGNC:HGNC:29331 See related Ensembl:ENSG00000152223 MIM:615068; AllianceGenome:HGNC:29331 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 HEEW1; VICIS; KIAA1632 Summary This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in bone marrow (RPKM 5.1), thyroid (RPKM 4.1) and 25 other tissues See more Orthologs mouse all
EPGN, Official Symbol EPGNprovided by HGNC Official Full Name epithelial mitogenprovided by HGNC Primary source HGNC:HGNC:17470 See related Ensembl:ENSG00000182585 MIM:618717; AllianceGenome:HGNC:17470 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 EPG; PRO9904; ALGV3072 Summary The protein encoded by this gene is a member of the epidermal growth factor family. Members of this family are ligands for the epidermal growth factor receptor and play a role in cell survival, proliferation and migration. This protein has been reported to have high mitogenic activity but low affinity for its receptor. Expression of this transcript and protein have been reported in cancer specimens of the breast, bladder, and prostate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Restricted expression toward esophagus (RPKM 11.2) See more Orthologs mouse all
EPHA1, Official Symbol EPHA1provided by HGNC Official Full Name EPH receptor A1provided by HGNC Primary source HGNC:HGNC:3385 See related Ensembl:ENSG00000146904 MIM:179610; AllianceGenome:HGNC:3385 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 EPH; EPHT; EPHT1 Summary This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 21.6), skin (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
EPHA1-AS1, Official Symbol EPHA1-AS1provided by HGNC Official Full Name EPHA1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27799 See related Ensembl:ENSG00000229153 AllianceGenome:HGNC:27799 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
EPHA10, Official Symbol EPHA10provided by HGNC Official Full Name EPH receptor A10provided by HGNC Primary source HGNC:HGNC:19987 See related Ensembl:ENSG00000183317 MIM:611123; AllianceGenome:HGNC:19987 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 DFNA88 Summary Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 7.0), colon (RPKM 2.9) and 7 other tissues See more Orthologs mouse all
EPHA2, Official Symbol EPHA2provided by HGNC Official Full Name EPH receptor A2provided by HGNC Primary source HGNC:HGNC:3386 See related Ensembl:ENSG00000142627 MIM:176946; AllianceGenome:HGNC:3386 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 ECK; CTPA; ARCC2; CTPP1; CTRCT6 Summary This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010] Expression Broad expression in esophagus (RPKM 37.8), urinary bladder (RPKM 18.3) and 21 other tissues See more Orthologs mouse all
EPHA3, Official Symbol EPHA3provided by HGNC Official Full Name EPH receptor A3provided by HGNC Primary source HGNC:HGNC:3387 See related Ensembl:ENSG00000044524 MIM:179611; AllianceGenome:HGNC:3387 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 EK4; ETK; HEK; ETK1; HEK4; TYRO4 Summary This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in prostate (RPKM 12.7), gall bladder (RPKM 11.9) and 18 other tissues See more Orthologs mouse all
EPHA4, Official Symbol EPHA4provided by HGNC Official Full Name EPH receptor A4provided by HGNC Primary source HGNC:HGNC:3388 See related Ensembl:ENSG00000116106 MIM:602188; AllianceGenome:HGNC:3388 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 EK8; SEK; HEK8; TYRO1 Summary This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015] Expression Broad expression in brain (RPKM 16.1), testis (RPKM 9.3) and 17 other tissues See more Orthologs mouse all
EPHA5, Official Symbol EPHA5provided by HGNC Official Full Name EPH receptor A5provided by HGNC Primary source HGNC:HGNC:3389 See related Ensembl:ENSG00000145242 MIM:600004; AllianceGenome:HGNC:3389 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 EK7; CEK7; EHK1; HEK7; EHK-1; TYRO4 Summary This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] Expression Biased expression in brain (RPKM 4.9), ovary (RPKM 1.0) and 6 other tissues See more Orthologs mouse all
EPHA5-AS1, Official Symbol EPHA5-AS1provided by HGNC Official Full Name EPHA5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50602 See related Ensembl:ENSG00000250846 AllianceGenome:HGNC:50602 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 brain (RPKM 2.9), prostate (RPKM 1.1) and 5 other tissues See more
EPHA6, Official Symbol EPHA6provided by HGNC Official Full Name EPH receptor A6provided by HGNC Primary source HGNC:HGNC:19296 See related Ensembl:ENSG00000080224 MIM:600066; AllianceGenome:HGNC:19296 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 EHK2; EK12; EPA6; EHK-2; HEK12; PRO57066 Summary Predicted to enable transmembrane-ephrin receptor activity. Predicted to be involved in axon guidance; positive regulation of kinase activity; and transmembrane receptor protein tyrosine kinase signaling pathway. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
EPHA7, Official Symbol EPHA7provided by HGNC Official Full Name EPH receptor A7provided by HGNC Primary source HGNC:HGNC:3390 See related Ensembl:ENSG00000135333 MIM:602190; AllianceGenome:HGNC:3390 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 EHK3; EK11; EHK-3; HEK11 Summary This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Broad expression in prostate (RPKM 3.4), kidney (RPKM 2.8) and 16 other tissues See more Orthologs mouse all
EPHA8, Official Symbol EPHA8provided by HGNC Official Full Name EPH receptor A8provided by HGNC Primary source HGNC:HGNC:3391 See related Ensembl:ENSG00000070886 MIM:176945; AllianceGenome:HGNC:3391 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 EEK; EK3; HEK3 Summary This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
EPHB1, Official Symbol EPHB1provided by HGNC Official Full Name EPH receptor B1provided by HGNC Primary source HGNC:HGNC:3392 See related Ensembl:ENSG00000154928 MIM:600600; AllianceGenome:HGNC:3392 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 ELK; NET; Hek6; EPHT2 Summary Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 6.3), testis (RPKM 3.5) and 8 other tissues See more Orthologs mouse all