EYA Transcriptional Coactivator and Phosphatase 2

Alternative Names

  • EYA2
  • Eyes Absent 2
  • Eyes Absent, Drosophila, Homolog Of, 2
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OMIM Number

601654

NCBI Gene ID

2139

Uniprot ID

O00167

Length

294,002 bases

No. of Exons

16

No. of isoforms

3

Protein Name

Eyes absent homolog 2

Molecular Mass

59232 Da

Amino Acid Count

538

Genomic Location

chr20:46,894,842-47,188,843

Gene Map Locus
20q13.12

Description

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. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005244.4:c.-11+35205A>GUnited Arab EmiratesNC_000020.11:g.46930192A>GType 2 Diabetes Mellitus; ObesityNG_011673.1:g.40323A>G; NM_005244.4:c.-11+35205A>G; NP_005235.3:p.?6090583
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