EPHA2 EPH receptor A2 [Homo sapiens] - Gene

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Summary

Official Symbol: EPHA2provided by HGNC
Official Full Name: EPH receptor A2provided by HGNC
Primary source: HGNC:3386
See related: Ensembl:ENSG00000142627; HPRD:01494; 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
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]

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Genomic context

Location :: 1p36

Sequence :: Chromosome: 1; NC_000001.10 (16450832..16482582, complement)

See EPHA2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Ephrin-A1 activates EphA2 on the surface of MDA-MB-231 human breast cancer cells.
Title: EphA2 receptor activation by monomeric Ephrin-A1 on supported membranes.
Sam (sterile alpha motif) domains of Odin, a member of the ANKS (ankyrin repeat and sterile alpha motif domain-containing) family of proteins, are important for the regulation of EphA2 endocytosis.
Title: Solution structure of the first Sam domain of Odin and binding studies with the EphA2 receptor.
EphA2 protein expression is significantly increased in laryngeal squamous cell carcinoma tissues and cell lines, and overexpression is associated with tumor recurrence, metastasis and poorer prognosis in LSCC patients.
Title: [Correlation of EphA2 protein expression with clinicopathological characteristics and prognosis in laryngeal squamous cell carcinoma].
activation of EphA2 participates in the regulation of fallopian tube cell adhesion via FAK dephosphorylation
Title: Activation of erythropoietin-producing hepatocellular receptor A2 attenuates cell adhesion of human fallopian tube epithelial cells via focal adhesion kinase dephosphorylation.
loss of the regulation of this Eph pathway through HIC1 epigenetic silencing could be an important mechanism in the pathogenesis of epithelial cancers
Title: The receptor tyrosine kinase EphA2 is a direct target gene of hypermethylated in cancer 1 (HIC1).
Ovarian serous carcinomas and ovarian cancer cell lines overexpress EphA2 and EphrinA-1. Tumor patients with higher expression levels of both EphA2 and EphrinA-1 have a significantly poorer clinical outcome.
Title: [Expression and prognostic significance of EphA2 and EphrinA-1 in ovarian serous carcinomas].
immunohistochemical analyses showed that high EPHA2 expression is detected in a subset of HNSCC tissues and is associated with poor prognosis
Title: Quantitative chemical proteomics reveals new potential drug targets in head and neck cancer.
Data found significant correlations between ephA2, ephA4, ephA7, ephB4, and ephB6 and overall and/or recurrence-free survival in large microarray datasets.
Title: Eph/ephrin profiling in human breast cancer reveals significant associations between expression level and clinical outcome.
EphA2 is a critical oncogene in melanoma.
Title: EphA2 is a critical oncogene in melanoma.
EphA2 has a role in regulating both tight junction formation and angiogenesis in brain endothelial cells
Title: Inactivation of EphA2 promotes tight junction formation and impairs angiogenesis in brain endothelial cells.

Submit: New GeneRIF Correction See all (105)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Cataract, age-related cortical, 2

MIM: 613020

Products	Interactant	Other Gene	Source	Pubs	Description
NC_000001.8	AAC50053.1		BIND	PubMed	Pax3/FKHR interacts with the EPHA2 promoter.
NP_004422.2	NP_004419.2	EFNA1	BIND	PubMed	The membrane bound ligand B61 interacts with the receptor ECK. This interaction was modeled on a demonstrated interaction between B61 from human and ECK from mouse.
NP_004422.2	NP_004943.1	EFNA3	BIND	PubMed	The membrane bound ligand EHK1-L interacts with the receptor ECK. This interaction was modeled on a demonstrated interaction between EHK1-L from human and ECK from mouse.
P29317	P24666	ACP1	HPRD	PubMed
P29317	P22681	CBL	HPRD	PubMed
P29317	P33151	CDH5	HPRD	PubMed
P29317	O14493	CLDN4	HPRD	PubMed
P29317	P20827	EFNA1	HPRD	PubMed
P29317	O43921	EFNA2	HPRD	PubMed
P29317	P52797	EFNA3	HPRD	PubMed
P29317	P52798	EFNA4	HPRD	PubMed
P29317	P52803	EFNA5	HPRD	PubMed
P29317	P00533	EGFR	HPRD	PubMed
P29317	P29317	EPHA2	HPRD	PubMed
P29317	P29317	EPHA2	HPRD	PubMed
P29317	P62993	GRB2	HPRD	PubMed
P29317	O00459	PIK3R2	HPRD	PubMed
P29317	Q05397	PTK2	HPRD	PubMed
P29317	Q06124	PTPN11	HPRD	PubMed
P29317	P20936	RASA1	HPRD	PubMed
P29317	P29353	SHC1	HPRD	PubMed
P29317	Q13239	SLA	HPRD	PubMed
P29317	Q13009	TIAM1	HPRD	PubMed
P29317	Q13829	TNFAIP1	HPRD	PubMed
BioGRID:108288	BioGRID:106568	ACP1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:108288	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108288	BioGRID:111313	PIK3R1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108288	BioGRID:111719	PTK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108288	BioGRID:111745	PTPN11	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108288	BioGRID:112361	SHC1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108288	BioGRID:112394	SLA	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108288	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
ephrin receptor activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
activation of Rac GTPase activity	IMP Inferred from Mutant Phenotype more info
apoptotic process	IDA Inferred from Direct Assay more info	PubMed
axial mesoderm formation	IEA Inferred from Electronic Annotation more info
blood vessel development	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
cell adhesion	IEA Inferred from Electronic Annotation more info
cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
ephrin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info
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 organismal development	TAS Traceable Author Statement more info	PubMed
negative regulation of protein kinase B signaling cascade	IDA Inferred from Direct Assay 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
positive regulation of establishment of protein localization in plasma membrane	IMP Inferred from Mutant Phenotype more info
protein kinase B signaling cascade	IDA Inferred from Direct Assay more info	PubMed
regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info
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 stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
skeletal system development	IEA Inferred from Electronic Annotation more info
tail morphogenesis	IEA Inferred from Electronic Annotation more info
vasculogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cell junction	IEA Inferred from Electronic Annotation more info
cell projection	IEA Inferred from Electronic Annotation more info
focal adhesion	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	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
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
ruffle membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: ephrin type-A receptor 2

Names: ephrin type-A receptor 2; soluble EPHA2 variant 1; tyrosine-protein kinase receptor ECK; epithelial cell receptor protein tyrosine kinase

NP_004422.2

EC 2.7.10.1

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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

NG_021396.1 RefSeqGene

Range

5001..36751

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004431.3 → NP_004422.2 ephrin type-A receptor 2 precursor

Status: REVIEWED

Source sequence(s)

AI302504, AL451042, BC037166, CB991812

Consensus CDS

CCDS169.1

UniProtKB/Swiss-Prot

P29317

Related

ENSP00000351209, OTTHUMP00000011117, ENST00000358432, OTTHUMT00000026322

Conserved Domains (7) summary

cd00063
Location:439 – 526
Blast Score: 165

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05063
Location:607 – 875
Blast Score: 1469

PTKc_EphR_A2; Catalytic domain of the Protein Tyrosine Kinase, Ephrin Receptor A2

pfam07699
Location:273 – 306
Blast Score: 85

GCC2_GCC3; GCC2 and GCC3

cd09543
Location:902 – 971
Blast Score: 379

SAM_EPH-A2; SAM domain of EPH-A2 family of tyrosine kinase receptors

smart00454
Location:902 – 968
Blast Score: 210

SAM; Sterile alpha motif.

cd10480
Location:28 – 201
Blast Score: 979

EphR_LBD_A2; Ligand Binding Domain of Ephrin type-A Receptor 2

pfam07714
Location:613 – 871
Blast Score: 1082

Pkinase_Tyr; Protein tyrosine kinase

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

16450832..16482582, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

14968749..15000153, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL451042.10	CAH71943.1
genomic	AY052403.1	AAL11019.1
genomic	CH471167.1	EAW51769.1
		EAW51770.1
genomic	CS026995.1	CAI61887.1
genomic	CS542490.1	CAM91182.1
genomic	GM868963.1	CAT16927.1
genomic	GM879993.1	CAV28316.1
genomic	HH976540.1	CBX51742.1
mRNA	AI302504.1	None
mRNA	AK296788.1	BAG59366.1
mRNA	BC008655.1	AAH08655.1
mRNA	BC037166.2	AAH37166.1
mRNA	CB991812.1	None
mRNA	EU826606.1	ACF47642.1
mRNA	M59371.1	AAA53375.1
other-genetic	DQ895231.2	ABM86157.1
other-genetic	EU176326.1	ABW03777.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P29317.2	GenPept	UniProtKB/Swiss-Prot:P29317
Q8IZL0	GenPept	UniProtKB/TrEMBL:Q8IZL0
Q96HF4	GenPept	UniProtKB/TrEMBL:Q96HF4