AutismKB 2.0

Annotation Details for ETV4


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Basic Information Top
Gene Symbol:ETV4 ( E1A-F,E1AF,PEA3,PEAS3 )
Gene Full Name: ets variant 4
Band: 17q21.31
Quick LinksEntrez ID:2118; OMIM: 600711; Uniprot ID:ETV4_HUMAN; ENSEMBL ID: ENSG00000175832; HGNC ID: 3493
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IBA-nucleus-
GO:0005654TAS-nucleoplasm-
GO:0005730IDA-nucleolus-
GO ID Evidence Qualifier GO_term References
GO:0000978IDA-RNA polymerase II core promoter proximal region sequence-specific DNA binding14625302
GO:0000981IBA-RNA polymerase II transcription factor activity, sequence-specific DNA binding-
GO:0001077IC-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding-
GO:0005515IPI-protein binding22458338
GO ID Evidence Qualifier GO_term References
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0030154IBA-cell differentiation-
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter24983502
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HOXD4ETV410947320211142 Two-hybrid
HOXD4ETV410841920211142 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:99423
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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