psui3905/ncbi_genes_summary huggingface dataset:
EFCAB2, Official Symbol EFCAB2provided by HGNC Official Full Name EF-hand calcium binding domain 2provided by HGNC Primary source HGNC:HGNC:28166 See related Ensembl:ENSG00000203666 MIM:619617; AllianceGenome:HGNC:28166 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 DRC8; CFAP200 Summary The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in thyroid (RPKM 1.2), testis (RPKM 1.2) and 25 other tissues See more Orthologs mouse all
EFCAB3, Official Symbol EFCAB3provided by HGNC Official Full Name EF-hand calcium binding domain 3provided by HGNC Primary source HGNC:HGNC:26379 See related Ensembl:ENSG00000172421 MIM:619567; AllianceGenome:HGNC:26379 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 calcium ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.1) See more Orthologs mouse all
EFCAB5, Official Symbol EFCAB5provided by HGNC Official Full Name EF-hand calcium binding domain 5provided by HGNC Primary source HGNC:HGNC:24801 See related Ensembl:ENSG00000176927 AllianceGenome:HGNC:24801 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 calcium ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 5.1) See more Orthologs mouse all
EFCAB6, Official Symbol EFCAB6provided by HGNC Official Full Name EF-hand calcium binding domain 6provided by HGNC Primary source HGNC:HGNC:24204 See related Ensembl:ENSG00000186976 MIM:619664; AllianceGenome:HGNC:24204 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 DJBP; HSCBCIP1; dJ185D5.1 Summary This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Biased expression in testis (RPKM 13.3) and thyroid (RPKM 1.2) See more Orthologs mouse all
EFCAB6-DT, Official Symbol EFCAB6-DTprovided by HGNC Official Full Name EFCAB6 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55371 See related AllianceGenome:HGNC:55371 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
EFCAB7, Official Symbol EFCAB7provided by HGNC Official Full Name EF-hand calcium binding domain 7provided by HGNC Primary source HGNC:HGNC:29379 See related Ensembl:ENSG00000203965 MIM:617632; AllianceGenome:HGNC:29379 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 calcium ion binding activity. Predicted to be involved in positive regulation of protein import into nucleus; positive regulation of protein localization to ciliary membrane; and positive regulation of transcription by RNA polymerase II. Predicted to be located in ciliary membrane. Predicted to be extrinsic component of membrane. Predicted to be part of plasma membrane protein complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 4.0), ovary (RPKM 1.9) and 23 other tissues See more Orthologs mouse all
EFCAB8, Official Symbol EFCAB8provided by HGNC Official Full Name EF-hand calcium binding domain 8provided by HGNC Primary source HGNC:HGNC:34532 See related Ensembl:ENSG00000215529 AllianceGenome:HGNC:34532 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 calcium ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.1), urinary bladder (RPKM 0.1) and 5 other tissues See more Orthologs mouse all
EFCAB9, Official Symbol EFCAB9provided by HGNC Official Full Name EF-hand calcium binding domain 9provided by HGNC Primary source HGNC:HGNC:34530 See related Ensembl:ENSG00000214360 MIM:618520; AllianceGenome:HGNC:34530 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 protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017] Expression Biased expression in testis (RPKM 2.8), spleen (RPKM 2.1) and 12 other tissues See more Orthologs mouse all
EFCC1, Official Symbol EFCC1provided by HGNC Official Full Name EF-hand and coiled-coil domain containing 1provided by HGNC Primary source HGNC:HGNC:25692 See related Ensembl:ENSG00000114654 AllianceGenome:HGNC:25692 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 CCDC48; C3orf73 Summary Predicted to enable calcium ion binding activity. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 5.0), ovary (RPKM 2.3) and 19 other tissues See more Orthologs mouse all
EFEMP1, Official Symbol EFEMP1provided by HGNC Official Full Name EGF containing fibulin extracellular matrix protein 1provided by HGNC Primary source HGNC:HGNC:3218 See related Ensembl:ENSG00000115380 MIM:601548; AllianceGenome:HGNC:3218 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 DHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; FIBL-3 Summary This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009] Expression Broad expression in placenta (RPKM 172.1), lung (RPKM 80.6) and 21 other tissues See more Orthologs mouse all
EFEMP2, Official Symbol EFEMP2provided by HGNC Official Full Name EGF containing fibulin extracellular matrix protein 2provided by HGNC Primary source HGNC:HGNC:3219 See related Ensembl:ENSG00000172638 MIM:604633; AllianceGenome:HGNC:3219 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 MBP1; UPH1; FBLN4; ARCL1B Summary A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in ovary (RPKM 37.0), endometrium (RPKM 33.0) and 24 other tissues See more Orthologs mouse all
EFHB, Official Symbol EFHBprovided by HGNC Official Full Name EF-hand domain family member Bprovided by HGNC Primary source HGNC:HGNC:26330 See related Ensembl:ENSG00000163576 AllianceGenome:HGNC:26330 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 CFAP21 Summary Enables calcium ion sensor activity. Involved in negative regulation of protein binding activity; regulation of calcineurin-NFAT signaling cascade; and regulation of store-operated calcium entry. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 7.6), lung (RPKM 1.1) and 1 other tissue See more Orthologs mouse all
EFHC1, Official Symbol EFHC1provided by HGNC Official Full Name EF-hand domain containing 1provided by HGNC Primary source HGNC:HGNC:16406 See related Ensembl:ENSG00000096093 MIM:608815; AllianceGenome:HGNC:16406 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 EJM1; POC9; RIB72; dJ304B14.2 Summary This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] Expression Broad expression in testis (RPKM 8.2), thyroid (RPKM 5.9) and 24 other tissues See more Orthologs mouse all
EFHC2, Official Symbol EFHC2provided by HGNC Official Full Name EF-hand domain containing 2provided by HGNC Primary source HGNC:HGNC:26233 See related Ensembl:ENSG00000183690 MIM:300817; AllianceGenome:HGNC:26233 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 MRX74; dJ1158H2.1 Summary This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011] Expression Broad expression in testis (RPKM 3.2), endometrium (RPKM 1.6) and 19 other tissues See more Orthologs mouse all
EFHD1, Official Symbol EFHD1provided by HGNC Official Full Name EF-hand domain family member D1provided by HGNC Primary source HGNC:HGNC:29556 See related Ensembl:ENSG00000115468 MIM:611617; AllianceGenome:HGNC:29556 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 SWS2; MST133; PP3051; MSTP133 Summary This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] Expression Biased expression in kidney (RPKM 68.5), placenta (RPKM 36.8) and 12 other tissues See more Orthologs mouse all
EFHD2, Official Symbol EFHD2provided by HGNC Official Full Name EF-hand domain family member D2provided by HGNC Primary source HGNC:HGNC:28670 See related Ensembl:ENSG00000142634 MIM:616450; AllianceGenome:HGNC:28670 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 SWS1 Summary Enables cadherin binding activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 61.4), spleen (RPKM 51.1) and 25 other tissues See more Orthologs mouse all
EFL1, Official Symbol EFL1provided by HGNC Official Full Name elongation factor like GTPase 1provided by HGNC Primary source HGNC:HGNC:25789 See related Ensembl:ENSG00000140598 MIM:617538; AllianceGenome:HGNC:25789 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 RIA1; SDS2; EFTUD1; FAM42A; HsT19294 Summary Enables GTPase activity and ribosome binding activity. Involved in GTP metabolic process and mature ribosome assembly. Predicted to be part of ribonucleoprotein complex. Implicated in Shwachman-Diamond syndrome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.4), small intestine (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
EFL1P1, Official Symbol EFL1P1provided by HGNC Official Full Name elongation factor like GTPase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31739 See related AllianceGenome:HGNC:31739 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM42B; EFTUD1P1; HsT19321 Expression Ubiquitous expression in testis (RPKM 1.8), small intestine (RPKM 1.2) and 25 other tissues See more
EFL1P2, Official Symbol EFL1P2provided by HGNC Official Full Name elongation factor like GTPase 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:44202 See related Ensembl:ENSG00000248998 AllianceGenome:HGNC:44202 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 EFTUD1P2
EFNA1, Official Symbol EFNA1provided by HGNC Official Full Name ephrin A1provided by HGNC Primary source HGNC:HGNC:3221 See related Ensembl:ENSG00000169242 MIM:191164; AllianceGenome:HGNC:3221 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 B61; EFL1; GMAN; ECKLG; EPLG1; LERK1; LERK-1; TNFAIP4 Summary This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. 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. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 65.2), lung (RPKM 54.9) and 22 other tissues See more Orthologs mouse all
EFNA2, Official Symbol EFNA2provided by HGNC Official Full Name ephrin A2provided by HGNC Primary source HGNC:HGNC:3222 See related Ensembl:ENSG00000099617 MIM:602756; AllianceGenome:HGNC:3222 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 ELF-1; EPLG6; LERK6; HEK7-L; LERK-6 Summary This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, 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. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008] Expression Biased expression in small intestine (RPKM 3.0), colon (RPKM 2.7) and 5 other tissues See more Orthologs mouse all
EFNA3, Official Symbol EFNA3provided by HGNC Official Full Name ephrin A3provided by HGNC Primary source HGNC:HGNC:3223 See related Ensembl:ENSG00000143590 MIM:601381; AllianceGenome:HGNC:3223 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 EFL2; EPLG3; LERK3; Ehk1-L Summary This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. 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. This gene encodes an EFNA class ephrin. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 20.5), esophagus (RPKM 8.1) and 3 other tissues See more Orthologs mouse all
EFNA4, Official Symbol EFNA4provided by HGNC Official Full Name ephrin A4provided by HGNC Primary source HGNC:HGNC:3224 See related Ensembl:ENSG00000243364 MIM:601380; AllianceGenome:HGNC:3224 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 EFL4; EPLG4; LERK4; LERK-4 Summary This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. 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. This gene encodes an EFNA class ephrin that has been implicated in proliferation and metastasis of several types of cancers. [provided by RefSeq, May 2022] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Ubiquitous expression in skin (RPKM 7.7), colon (RPKM 6.4) and 23 other tissues See more Orthologs mouse all
EFNA5, Official Symbol EFNA5provided by HGNC Official Full Name ephrin A5provided by HGNC Primary source HGNC:HGNC:3225 See related Ensembl:ENSG00000184349 MIM:601535; AllianceGenome:HGNC:3225 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 AF1; EFL5; RAGS; EPLG7; GLC1M; LERK7 Summary Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). 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 similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 2.4), brain (RPKM 1.7) and 22 other tissues See more Orthologs mouse all
EFNB1, Official Symbol EFNB1provided by HGNC Official Full Name ephrin B1provided by HGNC Primary source HGNC:HGNC:3226 See related Ensembl:ENSG00000090776 MIM:300035; AllianceGenome:HGNC:3226 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 CFND; CFNS; EFB1; EFL3; EPLG2; Elk-L; LERK2 Summary The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 27.2), placenta (RPKM 17.2) and 23 other tissues See more Orthologs mouse all
EFNB2, Official Symbol EFNB2provided by HGNC Official Full Name ephrin B2provided by HGNC Primary source HGNC:HGNC:3227 See related Ensembl:ENSG00000125266 MIM:600527; AllianceGenome:HGNC:3227 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 HTKL; EPLG5; Htk-L; LERK5; ephrin-B2 Summary This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. 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. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lung (RPKM 8.5), colon (RPKM 7.4) and 23 other tissues See more Orthologs mouse all
EFNB3, Official Symbol EFNB3provided by HGNC Official Full Name ephrin B3provided by HGNC Primary source HGNC:HGNC:3228 See related Ensembl:ENSG00000108947 MIM:602297; AllianceGenome:HGNC:3228 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 EFL6; EPLG8; LERK8 Summary EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). 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 similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 19.7), endometrium (RPKM 6.5) and 5 other tissues See more Orthologs mouse all
EFR3A, Official Symbol EFR3Aprovided by HGNC Official Full Name EFR3 homolog Aprovided by HGNC Primary source HGNC:HGNC:28970 See related Ensembl:ENSG00000132294 MIM:611798; AllianceGenome:HGNC:28970 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 part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in thyroid (RPKM 20.9), brain (RPKM 19.1) and 25 other tissues See more Orthologs mouse all
EFR3B, Official Symbol EFR3Bprovided by HGNC Official Full Name EFR3 homolog Bprovided by HGNC Primary source HGNC:HGNC:29155 See related Ensembl:ENSG00000084710 MIM:616797; AllianceGenome:HGNC:29155 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 KIAA0953 Summary Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in actin cytoskeleton; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 12.6), lung (RPKM 1.9) and 6 other tissues See more Orthologs mouse all
EFS, Official Symbol EFSprovided by HGNC Official Full Name embryonal Fyn-associated substrateprovided by HGNC Primary source HGNC:HGNC:16898 See related Ensembl:ENSG00000100842 MIM:609906; AllianceGenome:HGNC:16898 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 SIN; CAS3; EFS1; EFS2; HEFS; CASS3 Summary The protein encoded by this gene is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These complexes form at the cell surface where integrin binding leads to the subsequent phosphorylation of a CAS protein. Additional binding of SRC family kinases leads to CAS hyperphosphorylation and the creation of binding sites for CRK and other proteins that cause actin cytoskeleton reorganization. This gene plays a role in integrin-mediated cell attachment, spreading, and migration and also plays a role in both normal and malignant cellular transformation. This broadly expressed gene has been shown to play a role in neurite outgrowth and its expression in the thymus and lymphocytes is important for T cell maturation and the development of immunological self-tolerance. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020] Expression Broad expression in skin (RPKM 22.8), ovary (RPKM 15.1) and 22 other tissues See more Orthologs mouse all
EFTUD2, Official Symbol EFTUD2provided by HGNC Official Full Name elongation factor Tu GTP binding domain containing 2provided by HGNC Primary source HGNC:HGNC:30858 See related Ensembl:ENSG00000108883 MIM:603892; AllianceGenome:HGNC:30858 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 MFDM; MFDGA; Snu114; Snrp116; SNRNP116; U5-116KD Summary This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in testis (RPKM 15.7), appendix (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
EGF, Official Symbol EGFprovided by HGNC Official Full Name epidermal growth factorprovided by HGNC Primary source HGNC:HGNC:3229 See related Ensembl:ENSG00000138798 MIM:131530; AllianceGenome:HGNC:3229 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 URG; HOMG4 Summary This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016] Expression Biased expression in kidney (RPKM 47.7), pancreas (RPKM 9.8) and 1 other tissue See more Orthologs mouse all
EGFEM1P, Official Symbol EGFEM1Pprovided by HGNC Official Full Name EGF like and EMI domain containing 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:25149 See related AllianceGenome:HGNC:25149 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C3orf50; NCRNA00259 Expression Low expression observed in reference dataset See more
EGFL6, Official Symbol EGFL6provided by HGNC Official Full Name EGF like domain multiple 6provided by HGNC Primary source HGNC:HGNC:3235 See related Ensembl:ENSG00000198759 MIM:300239; AllianceGenome:HGNC:3235 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 W80; MAEG Summary This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. [provided by RefSeq, Jul 2008] Expression Restricted expression toward placenta (RPKM 287.0) See more Orthologs mouse all
EGFL7, Official Symbol EGFL7provided by HGNC Official Full Name EGF like domain multiple 7provided by HGNC Primary source HGNC:HGNC:20594 See related Ensembl:ENSG00000172889 MIM:608582; AllianceGenome:HGNC:20594 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 NEU1; ZNEU1; VE-STATIN Summary This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] Expression Broad expression in placenta (RPKM 22.8), fat (RPKM 14.4) and 19 other tissues See more Orthologs mouse all
EGFL8, Official Symbol EGFL8provided by HGNC Official Full Name EGF like domain multiple 8provided by HGNC Primary source HGNC:HGNC:13944 See related Ensembl:ENSG00000241404 MIM:609897; AllianceGenome:HGNC:13944 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 NG3; C6orf8 Summary Predicted to enable signaling receptor binding activity. Predicted to be involved in anatomical structure development. Predicted to act upstream of or within in utero embryonic development. Predicted to be active in cell surface and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 13.7), skin (RPKM 12.8) and 25 other tissues See more Orthologs mouse all
EGFLAM, Official Symbol EGFLAMprovided by HGNC Official Full Name EGF like, fibronectin type III and laminin G domainsprovided by HGNC Primary source HGNC:HGNC:26810 See related Ensembl:ENSG00000164318 MIM:617683; AllianceGenome:HGNC:26810 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 PIKA; AGRNL; AGRINL Summary Predicted to enable calcium ion binding activity and glycosaminoglycan binding activity. Predicted to be involved in animal organ morphogenesis and tissue development. Predicted to act upstream of or within extracellular matrix organization; peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; and positive regulation of cell-substrate adhesion. Part of cell surface. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 12.2), fat (RPKM 7.7) and 17 other tissues See more Orthologs mouse all
EGFLAM-AS2, Official Symbol EGFLAM-AS2provided by HGNC Official Full Name EGFLAM antisense RNA 2provided by HGNC Primary source HGNC:HGNC:41168 See related Ensembl:ENSG00000248572 AllianceGenome:HGNC:41168 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 3.0) See more
EGFLAM-AS4, Official Symbol EGFLAM-AS4provided by HGNC Official Full Name EGFLAM antisense RNA 4provided by HGNC Primary source HGNC:HGNC:41166 See related Ensembl:ENSG00000248730 AllianceGenome:HGNC:41166 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
EGFR, Official Symbol EGFRprovided by HGNC Official Full Name epidermal growth factor receptorprovided by HGNC Primary source HGNC:HGNC:3236 See related Ensembl:ENSG00000146648 MIM:131550; AllianceGenome:HGNC:3236 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 ERBB; ERRP; HER1; mENA; ERBB1; PIG61; NISBD2 Summary The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response. Expression Broad expression in placenta (RPKM 36.6), skin (RPKM 15.6) and 22 other tissues See more Orthologs mouse all
EGFR-AS1, Official Symbol EGFR-AS1provided by HGNC Official Full Name EGFR antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40207 See related Ensembl:ENSG00000224057 AllianceGenome:HGNC:40207 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 placenta (RPKM 4.4), small intestine (RPKM 1.8) and 18 other tissues See more
EGILA, Official Symbol EGILAprovided by HGNC Official Full Name EGFR interacting lncRNAprovided by HGNC Primary source HGNC:HGNC:54482 See related Ensembl:ENSG00000258451 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 Lnc-EGFR
EGLN1, Official Symbol EGLN1provided by HGNC Official Full Name egl-9 family hypoxia inducible factor 1provided by HGNC Primary source HGNC:HGNC:1232 See related Ensembl:ENSG00000135766 MIM:606425; AllianceGenome:HGNC:1232 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 HPH2; PHD2; SM20; ECYT3; HALAH; HPH-2; HIFPH2; ZMYND6; C1orf12; HIF-PH2 Summary The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in kidney (RPKM 11.5), brain (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
EGLN2, Official Symbol EGLN2provided by HGNC Official Full Name egl-9 family hypoxia inducible factor 2provided by HGNC Primary source HGNC:HGNC:14660 See related Ensembl:ENSG00000269858 MIM:606424; AllianceGenome:HGNC:14660 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 EIT6; PHD1; EIT-6; HPH-1; HPH-3; HIFPH1; HIF-PH1 Summary The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011] Expression Broad expression in testis (RPKM 61.2), spleen (RPKM 33.0) and 24 other tissues See more Orthologs mouse all
EGLN3, Official Symbol EGLN3provided by HGNC Official Full Name egl-9 family hypoxia inducible factor 3provided by HGNC Primary source HGNC:HGNC:14661 See related Ensembl:ENSG00000129521 MIM:606426; AllianceGenome:HGNC:14661 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 PHD3; HIFPH3; HIFP4H3 Summary Enables peptidyl-proline 4-dioxygenase activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; peptidyl-proline hydroxylation to 4-hydroxy-L-proline; and response to hypoxia. Located in cytosol and nucleus. Implicated in renal cell carcinoma. Biomarker of clear cell renal cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 31.3), heart (RPKM 27.7) and 16 other tissues See more Orthologs mouse all
EGLN3P1, Official Symbol EGLN3P1provided by HGNC Official Full Name egl-9 family hypoxia-inducible factor 3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49857 See related AllianceGenome:HGNC:49857 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
EGOT, Official Symbol EGOTprovided by HGNC Official Full Name eosinophil granule ontogeny transcriptprovided by HGNC Primary source HGNC:HGNC:37129 See related Ensembl:ENSG00000235947 MIM:611662; AllianceGenome:HGNC:37129 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 EGO; NCRNA00190 Expression Biased expression in kidney (RPKM 3.9), gall bladder (RPKM 0.4) and 1 other tissue See more
EGR1, Official Symbol EGR1provided by HGNC Official Full Name early growth response 1provided by HGNC Primary source HGNC:HGNC:3238 See related Ensembl:ENSG00000120738 MIM:128990; AllianceGenome:HGNC:3238 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 TIS8; AT225; G0S30; NGFI-A; ZNF225; KROX-24; ZIF-268 Summary The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in ovary (RPKM 449.0), thyroid (RPKM 344.9) and 23 other tissues See more Orthologs mouse all
EGR2, Official Symbol EGR2provided by HGNC Official Full Name early growth response 2provided by HGNC Primary source HGNC:HGNC:3239 See related Ensembl:ENSG00000122877 MIM:129010; AllianceGenome:HGNC:3239 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 AT591; CMT1D; CMT4E; KROX20 Summary The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] Expression Biased expression in thyroid (RPKM 66.1), gall bladder (RPKM 19.2) and 11 other tissues See more Orthologs mouse all