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EPHA2 EPH receptor A2 [ Homo sapiens (human) ]

Gene ID: 1969, updated on 1-Jun-2020

Summary

Official Symbol
EPHA2provided by HGNC
Official Full Name
EPH receptor A2provided by HGNC
Primary source
HGNC:HGNC:3386
See related
Ensembl:ENSG00000142627 MIM:176946
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

Genomic context

See EPHA2 in Genome Data Viewer
Location:
1p36.13
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (16124337..16156104, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16450832..16482582, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CLCNKB recombination region Neighboring gene chloride voltage-gated channel Kb Neighboring gene family with sequence similarity 131 member C Neighboring gene uncharacterized LOC101927479 Neighboring gene Sharpr-MPRA regulatory region 8013 Neighboring gene Rho guanine nucleotide exchange factor 19

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cataract 6, multiple types
MedGen: C1861825 OMIM: 116600 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane-ephrin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
virus receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
activation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
axial mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
blood vessel endothelial cell proliferation involved in sprouting angiogenesis IEA
Inferred from Electronic Annotation
more info
 
bone remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
branching involved in mammary gland duct morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cAMP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response to Gram-positive bacterium IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway in response to DNA damage IDA
Inferred from Direct Assay
more info
PubMed 
keratinocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
lens fiber cell morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
mammary gland epithelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of chemokine production IEA
Inferred from Electronic Annotation
more info
 
negative regulation of lymphangiogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
neural tube development IEA
Inferred from Electronic Annotation
more info
 
notochord cell development IEA
Inferred from Electronic Annotation
more info
 
notochord formation IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
osteoclast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
pericyte cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of blood vessel endothelial cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell adhesion mediated by integrin IDA
Inferred from Direct Assay
more info
PubMed 
regulation of lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to growth factor IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface HDA PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion HDA PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium membrane IEA
Inferred from Electronic Annotation
more info
 
leading edge membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 
tight junction IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ephrin type-A receptor 2
Names
epithelial cell receptor protein tyrosine kinase
soluble EPHA2 variant 1
tyrosine-protein kinase receptor ECK
NP_001316019.1
NP_004422.2
XP_016856026.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021396.1 RefSeqGene

    Range
    5019..36751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329090.2NP_001316019.1  ephrin type-A receptor 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AI302504, AL451042
  2. NM_004431.5NP_004422.2  ephrin type-A receptor 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_004422.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI302504, AL451042, BC037166, HY005615
    Consensus CDS
    CCDS169.1
    UniProtKB/Swiss-Prot
    P29317
    UniProtKB/TrEMBL
    A0A024QZA8
    Related
    ENSP00000351209.5, ENST00000358432.8
    Conserved Domains (7) summary
    cd05063
    Location:607875
    PTKc_EphR_A2; Catalytic domain of the Protein Tyrosine Kinase, Ephrin Receptor A2
    cd09543
    Location:902971
    SAM_EPH-A2; SAM domain of EPH-A2 family of tyrosine kinase receptors
    smart00454
    Location:902968
    SAM; Sterile alpha motif
    cd10480
    Location:28201
    EphR_LBD_A2; Ligand Binding Domain of Ephrin type-A Receptor 2
    pfam00041
    Location:438519
    fn3; Fibronectin type III domain
    pfam07714
    Location:613871
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:556608
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    16124337..16156104 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000537.1XP_016856026.1  ephrin type-A receptor 2 isoform X1

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