Ephrin Receptor EphA2

Alternative Names

  • EPHA2
  • Epithelial Cell Receptor Protein-Tyrosine Kinase
  • ECK

Associated Diseases

Cataract 6, Multiple Types
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OMIM Number

176946

NCBI Gene ID

1969

Uniprot ID

P29317

Length

31,733 bases

No. of Exons

20

No. of isoforms

2

Protein Name

Ephrin type-A receptor 2

Molecular Mass

108266 Da

Amino Acid Count

976

Genomic Location

chr1:16,124,337-16,156,069

Gene Map Locus
1p36.13

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004431.3:c.1315C>TSaudi ArabiaNC_000001.11:g.16135768G>APathogenicCataract 6, Multiple TypesNG_021396.1:g.25320C>T; NM_004431.3:c.1315C>T; NP_004422.2:p.Pro439Ser946986272
NM_004431.5:c.1405T>CSaudi ArabiaNC_000001.11:g.16135678A>GPathogenicCataract 6, Multiple TypesNG_021396.1:g.25410T>C; NM_004431.5:c.1405T>C; NP_004422.2:p.Tyr469His
NM_004431.5:c.2007G>TSaudi ArabiaNC_000001.11:g.16133226C>ALikely PathogenicPathogenicCataract 6, Multiple TypesNG_021396.1:g.27862G>T; NM_004431.5:c.2007G>T; NP_004422.2:p.Gln669His786205441190978
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