EPH receptor A4

EPH receptor A4 (ephrin type-A receptor 4) is a protein that in humans is encoded by the EPHA4 gene.[5][6]

EPHA4
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEPHA4, Epha4, 2900005C20Rik, AI385584, Cek8, Hek8, Sek, Sek1, Tyro1, rb, EPH receptor A4, HEK8, SEK, TYRO1, EK8
External IDsOMIM: 602188 MGI: 98277 HomoloGene: 20933 GeneCards: EPHA4
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q36.1Start221,418,027 bp[1]
End221,574,202 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

2043

13838

Ensembl

ENSG00000116106

ENSMUSG00000026235

UniProt

P54764

Q03137

RefSeq (mRNA)

NM_001304536
NM_001304537
NM_004438
NM_001363748

NM_007936

RefSeq (protein)

NP_001291465
NP_001291466
NP_004429
NP_001350677

NP_031962

Location (UCSC)Chr 2: 221.42 – 221.57 MbChr 1: 77.37 – 77.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

In 2012, a publication in Nature Medicine revealed a connection between EPHA4 and the neurodegenerative disease Amyotrophic lateral sclerosis (ALS), where a defective gene allows ALS patients to live considerably longer than patients with an intact gene. This opens up for development of treatment for this currently untreatable disease.

References

  1. GRCh38: Ensembl release 89: ENSG00000116106 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000026235 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Ephnomenclaturecommittee (Sep 1997). "Unified nomenclature for Eph family receptors and their ligands, the ephrins. Eph Nomenclature Committee". Cell. 90 (3): 403–4. doi:10.1016/S0092-8674(00)80500-0. PMID 9267020. S2CID 26773768.
  6. "Entrez Gene: EPHA4 EPH receptor A4".

Further reading


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