EPHA2 EPH receptor A2 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:3386
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: mouse all
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Genomic context

Location:: 1p36.13

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (16124337..16156069, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (15565745..15597465, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (16450832..16482564, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TYRO3 and EPHA2 Expression Are Dysregulated in Breast Cancer.
Title: TYRO3 and EPHA2 Expression Are Dysregulated in Breast Cancer.
Transmembrane helix interactions regulate oligomerization of the receptor tyrosine kinase EphA2.
Title: Transmembrane helix interactions regulate oligomerization of the receptor tyrosine kinase EphA2.
The EphA2 Receptor Regulates Invasiveness and Drug Sensitivity in Canine and Human Osteosarcoma Cells.
Title: The EphA2 Receptor Regulates Invasiveness and Drug Sensitivity in Canine and Human Osteosarcoma Cells.
EphA2 promotes the transcription of KLF4 to facilitate stemness in oral squamous cell carcinoma.
Title: EphA2 promotes the transcription of KLF4 to facilitate stemness in oral squamous cell carcinoma.
USP3 promotes osteosarcoma progression via deubiquitinating EPHA2 and activating the PI3K/AKT signaling pathway.
Title: USP3 promotes osteosarcoma progression via deubiquitinating EPHA2 and activating the PI3K/AKT signaling pathway.
MiR-302a-3p reduces cisplatin resistance of esophageal squamous cell carcinoma cells by targeting EphA2.
Title: MiR-302a-3p reduces cisplatin resistance of esophageal squamous cell carcinoma cells by targeting EphA2.
EphA2 as a phase separation protein associated with ferroptosis and immune cell infiltration in colorectal cancer.
Title: EphA2 as a phase separation protein associated with ferroptosis and immune cell infiltration in colorectal cancer.
LINC02086 promotes cell viability and inhibits cell apoptosis in breast cancer by sponging miR-6757-5p and up-regulating EPHA2.
Title: LINC02086 promotes cell viability and inhibits cell apoptosis in breast cancer by sponging miR-6757-5p and up-regulating EPHA2.
Claudin-1 interacts with EPHA2 to promote cancer stemness and chemoresistance in colorectal cancer.
Title: Claudin-1 interacts with EPHA2 to promote cancer stemness and chemoresistance in colorectal cancer.
Downregulation of EphA2 stability by RNF5 limits its tumor-suppressive function in HER2-negative breast cancers.
Title: Downregulation of EphA2 stability by RNF5 limits its tumor-suppressive function in HER2-negative breast cancers.

Submit: New GeneRIF Correction See all GeneRIFs (313)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH17703 (e-PCR)
- UniSTS:54743

EPHA2_31 (e-PCR)
- UniSTS:277208

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	HDA more info	PubMed
enables ephrin receptor activity	IEA Inferred from Electronic Annotation more info
enables growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular function activator activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane receptor protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

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

Component	Evidence Code	Pubs
located_in cell surface	HDA more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium membrane	IEA Inferred from Electronic Annotation more info
located_in leading edge membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info
located_in tight junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ephrin type-A receptor 2

Names: epithelial cell receptor protein tyrosine kinase; tyrosine-protein kinase receptor ECK

NP_001316019.1

EC 2.7.10.1

NP_004422.2

EC 2.7.10.1

XP_016856026.1

EC 2.7.10.1

XP_047304215.1

EC 2.7.10.1

XP_047304223.1

EC 2.7.10.1

XP_047304228.1

EC 2.7.10.1

XP_054190833.1

EC 2.7.10.1

XP_054190834.1

EC 2.7.10.1

XP_054190835.1

EC 2.7.10.1

XP_054190836.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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

5019..36751

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001329090.2 → NP_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
NM_004431.5 → NP_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

B5A968, P29317, Q8N3Z2

Related

ENSP00000351209.5, ENST00000358432.8

Conserved Domains (5) summary

cd05063
Location:607 → 875

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

cd09543
Location:902 → 971

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

cd10480
Location:28 → 201

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

pfam00041
Location:438 → 516

fn3; Fibronectin type III domain

pfam14575
Location:556 → 608

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain