AutismKB 2.0

Annotation Details for EBF2


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Basic Information Top
Gene Symbol:EBF2 ( COE2,EBF-2,FLJ11500,O/E-3,OE-3 )
Gene Full Name: early B-cell factor 2
Band: 8p21.2
Quick LinksEntrez ID:64641; OMIM: 609934; Uniprot ID:COE2_HUMAN; ENSEMBL ID: ENSG00000221818; HGNC ID: 19090
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO ID Evidence Qualifier GO_term References
GO:0000978IEA-RNA polymerase II core promoter proximal region sequence-specific DNA binding-
GO:0001077IEA-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding-
GO:0003682IEA-chromatin binding-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0001709IEA-cell fate determination-
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0035563IEA-positive regulation of chromatin binding-
GO:0045944IEA-positive regulation of transcription from RNA polymerase II promoter-
GO:0050873IEA-brown fat cell differentiation-
GO:0060612IEA-adipose tissue development-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EBF2ZNF4231167189151733 Co-purification
EBF2ZNF4231222219151733 Co-purification
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:894332
  • 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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