AutismKB 2.0

Annotation Details for DIAPH3


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Basic Information Top
Gene Symbol:DIAPH3 ( DKFZp434C0931,DKFZp686A13178,DRF3,FLJ34705,diap3,mDia2 )
Gene Full Name: diaphanous homolog 3 (Drosophila)
Band: 13q21.2
Quick LinksEntrez ID:81624; OMIM: NA; Uniprot ID:DIAP3_HUMAN; ENSEMBL ID: ENSG00000139734; HGNC ID: 15480
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0003779IEA-actin binding-
GO:0017048IEA-Rho GTPase binding-
GO:0045296IDA-cadherin binding25468996
GO ID Evidence Qualifier GO_term References
GO:0007283IEA-spermatogenesis-
GO:0030036IEA-actin cytoskeleton organization-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
DIAPH3HDAC611533015976449 Affinity Capture-Western
DIAPH3HDAC612355915976449 Affinity Capture-Western
DIAPH3NCKIPSD11958311509578 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
DIAPH3NCKIPSD12355911509578 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1927222
  • Data Attributes: 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