AutismKB 2.0

Annotation Details for EYA2


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Basic Information Top
Gene Symbol:EYA2 ( EAB1,MGC10614 )
Gene Full Name: eyes absent homolog 2 (Drosophila)
Band: 20q13.12
Quick LinksEntrez ID:2139; OMIM: 601654; Uniprot ID:EYA2_HUMAN; ENSEMBL ID: ENSG00000064655; HGNC ID: 3520
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IBA-nucleus-
GO:0005654TAS-nucleoplasm-
GO:0005739IEA-mitochondrion-
GO:0005829IDA-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0000287IDA-magnesium ion binding19351884
GO:0004725IDA-protein tyrosine phosphatase activity19351884
GO:0005515IPI-protein binding19497856
GO:0008134IEA-transcription factor binding-
GO ID Evidence Qualifier GO_term References
GO:0006281IEA-DNA repair-
GO:0006351IEA-transcription, DNA-templated-
GO:0006355IEA-regulation of transcription, DNA-templated-
GO:0007501TAS-mesodermal cell fate specification9020840
GO:0014706IEA-striated muscle tissue development-
GO:0016576IDA-histone dephosphorylation19351884
GO:0035335IEA-peptidyl-tyrosine dephosphorylation-
GO:0045739IBA-positive regulation of DNA repair-
GO:0097192IEA-extrinsic apoptotic signaling pathway in absence of ligand-
GO:0097345IEA-mitochondrial outer membrane permeabilization-
GO:2001240IBA-negative regulation of extrinsic apoptotic signaling pathway in absence of ligand-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SIX4EYA211973010490620 Two-hybrid
SIX4EYA210844010490620 Two-hybrid
GNAI2EYA210903310906137 Reconstituted Complex; Two-hybrid
GNAI2EYA210844010906137 Reconstituted Complex; Two-hybrid
GNAZEYA210904310906137 Reconstituted Complex; Two-hybrid
GNAZEYA210844010906137 Reconstituted Complex; Two-hybrid
SIX1EYA210844010906137 Two-hybrid
SIX1EYA211238610906137 Two-hybrid
RBPMSEYA211622016189514 Two-hybrid
RBPMSEYA210844016189514 Two-hybrid
DMRTB1EYA212201216189514 Two-hybrid
DMRTB1EYA210844016189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109341
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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