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EPHA2 EPH receptor A2 [ Homo sapiens (human) ]

Gene ID: 1969, updated on 11-Nov-2018

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; Vega:OTTHUMG00000009527
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 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (16124337..16156109, 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 Rho guanine nucleotide exchange factor 19 Neighboring gene anoctamin 7 like 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 BioSystems

  • Arf6 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Arf6 signaling events, organism-specific biosystem
    Arf6 signaling events
  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
    EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
  • EPH-ephrin mediated repulsion of cells, organism-specific biosystem (from REACTOME)
    EPH-ephrin mediated repulsion of cells, organism-specific biosystemDespite high-affinity multimeric interaction between EPHs and ephrins (EFNs), the cellular response to EPH-EFN engagement is usually repulsion between the two cells and signal termination. These repu...
  • EPHA forward signaling, organism-specific biosystem (from Pathway Interaction Database)
    EPHA forward signaling, organism-specific biosystem
    EPHA forward signaling
  • EPHA-mediated growth cone collapse, organism-specific biosystem (from REACTOME)
    EPHA-mediated growth cone collapse, organism-specific biosystemEPH/Ephrin signaling is coupled to Rho family GTPases such as Rac, Rho and Cdc42 that connect bidirectional receptor-ligand interactions to changes in the actin cytoskeleton (Noren & Pasquale 2004, G...
  • EPHA2 forward signaling, organism-specific biosystem (from Pathway Interaction Database)
    EPHA2 forward signaling, organism-specific biosystem
    EPHA2 forward signaling
  • EphrinA-EPHA pathway, organism-specific biosystem (from Pathway Interaction Database)
    EphrinA-EPHA pathway, organism-specific biosystem
    EphrinA-EPHA pathway
  • NRF2 pathway, organism-specific biosystem (from WikiPathways)
    NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem (from Pathway Interaction Database)
    Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem
    Stabilization and expansion of the E-cadherin adherens junction

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 signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
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
 
bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
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 differentiation IBA
Inferred from Biological aspect of Ancestor
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 TAS
Traceable Author Statement
more info
PubMed 
negative regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
negative regulation of signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neural tube development IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation 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 ERK1 and ERK2 cascade 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
 
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 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
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
    4979..36751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329090.1NP_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_004431.4NP_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, OTTHUMP00000011117, ENST00000358432.7, OTTHUMT00000026322
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    16124337..16156109 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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