EYA2

Eyes absent homolog 2 is a protein that in humans is encoded by the EYA2 gene.[5][6]

EYA2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEYA2, EAB1, EYA transcriptional coactivator and phosphatase 2
External IDsOMIM: 601654 MGI: 109341 HomoloGene: 40711 GeneCards: EYA2
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20q13.12Start46,894,624 bp[1]
End47,188,844 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

2139

14049

Ensembl

ENSG00000064655

ENSMUSG00000017897

UniProt

O00167

O08575

RefSeq (mRNA)

NM_005244
NM_172110
NM_172111
NM_172112
NM_172113

NM_001271962
NM_001271963
NM_010165

RefSeq (protein)

NP_005235
NP_742108

NP_001258891
NP_001258892
NP_034295

Location (UCSC)Chr 20: 46.89 – 47.19 MbChr 2: 165.6 – 165.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Five transcript variants encoding three distinct isoforms have been identified for this gene.[6]

Interactions

EYA2 has been shown to interact with GNAI2[7] and GNAZ.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000064655 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000017897 - 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. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C (Feb 1997). "A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family". Nature Genetics. 15 (2): 157–64. doi:10.1038/ng0297-157. PMID 9020840. S2CID 28527865.
  6. "Entrez Gene: EYA2 eyes absent homolog 2 (Drosophila)".
  7. Fan X, Brass LF, Poncz M, Spitz F, Maire P, Manning DR (Oct 2000). "The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins". The Journal of Biological Chemistry. 275 (41): 32129–34. doi:10.1074/jbc.M004577200. PMID 10906137.

Further reading

  • PDBe-KB provides an overview of all the structure information available in the PDB for Human Eyes absent homolog 2 (EYA2)


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