ENSG00000142627


Homo sapiens

Features
Gene ID: ENSG00000142627
  
Biological name :EPHA2
  
Synonyms : EPHA2 / EPH receptor A2 / P29317
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p36.13
Gene start: 16124337
Gene end: 16156087
  
Corresponding Affymetrix probe sets: 203499_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000351209
NCBI entrez gene - 1969     See in Manteia.
OMIM - 176946
RefSeq - XM_017000536
RefSeq - NM_001329090
RefSeq - NM_004431
RefSeq - XM_017000534
RefSeq - XM_017000535
RefSeq Peptide - NP_001316019
RefSeq Peptide - NP_004422
swissprot - P29317
swissprot - A0A024QZA8
Ensembl - ENSG00000142627
  
Related genetic diseases (OMIM): 116600 - Cataract 6, multiple types, 116600
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 EPHA2ENSGALG00000039895Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EPHA10 / Q5JZY3 / EPH receptor A10ENSG0000018331742


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001090  Ephrin receptor ligand binding domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001426  Tyrosine-protein kinase, receptor class V, conserved site
 IPR001660  Sterile alpha motif domain
 IPR003961  Fibronectin type III
 IPR008266  Tyrosine-protein kinase, active site
 IPR008979  Galactose-binding-like domain superfamily
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR011009  Protein kinase-like domain superfamily
 IPR011641  Tyrosine-protein kinase ephrin type A/B receptor-like
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR013783  Immunoglobulin-like fold
 IPR016257  Ephrin receptor type-A /type-B
 IPR017441  Protein kinase, ATP binding site
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR027936  Ephrin receptor, transmembrane domain
 IPR034263  Ephrin type-A receptor 2, ligand binding domain
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001649 osteoblast differentiation ISS
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA
 biological_processGO:0007275 multicellular organism development TAS
 biological_processGO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IDA
 biological_processGO:0010591 regulation of lamellipodium assembly IMP
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0016477 cell migration IMP
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030216 keratinocyte differentiation IMP
 biological_processGO:0030316 osteoclast differentiation ISS
 biological_processGO:0033598 mammary gland epithelial cell proliferation ISS
 biological_processGO:0033628 regulation of cell adhesion mediated by integrin IDA
 biological_processGO:0043491 protein kinase B signaling IDA
 biological_processGO:0043535 regulation of blood vessel endothelial cell migration ISS
 biological_processGO:0045765 regulation of angiogenesis ISS
 biological_processGO:0046058 cAMP metabolic process IMP
 biological_processGO:0046718 viral entry into host cell IEA
 biological_processGO:0046849 bone remodeling ISS
 biological_processGO:0048013 ephrin receptor signaling pathway IDA
 biological_processGO:0048870 cell motility IMP
 biological_processGO:0051898 negative regulation of protein kinase B signaling IDA
 biological_processGO:0060326 cell chemotaxis IMP
 biological_processGO:0060444 branching involved in mammary gland duct morphogenesis ISS
 biological_processGO:0070309 lens fiber cell morphogenesis ISS
 biological_processGO:0070372 regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:0070848 response to growth factor IMP
 biological_processGO:0090630 activation of GTPase activity IMP
 biological_processGO:1903078 positive regulation of protein localization to plasma membrane IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0005925 focal adhesion IEA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030027 lamellipodium IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031256 leading edge membrane IDA
 cellular_componentGO:0031258 lamellipodium membrane IEA
 cellular_componentGO:0032587 ruffle membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0001618 virus receptor activity IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity IEA
 molecular_functionGO:0004714 transmembrane receptor protein tyrosine kinase activity IEA
 molecular_functionGO:0005003 ephrin receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
EPH-Ephrin signaling
EPHA-mediated growth cone collapse
EPH-ephrin mediated repulsion of cells


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
Show

 HP:0000545 Myopia 
Show

 HP:0001115 Posterior polar cataract "A `polar cataract` (HP:0010696) that affects the `posterior pole of the lens` (FMA:58898)." [HPO:probinson]
Show

 HP:0001139 Choroideremia 
Show

 HP:0010700 Total cataract "A `Congenital cataract` (HP:0000519) characterized by an opacity of all the fibers of a lens." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr