AutismKB 2.0

Annotation Details for FCHSD2


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Basic Information Top
Gene Symbol:FCHSD2 ( KIAA0769,NWK,SH3MD3 )
Gene Full Name: FCH and double SH3 domains 2
Band: 11q13.4
Quick LinksEntrez ID:9873; OMIM: NA; Uniprot ID:FCSD2_HUMAN; ENSEMBL ID: ENSG00000137478; HGNC ID: 29114
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0031594IBA-neuromuscular junction-
GO:0055037IBA-recycling endosome-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding14627983
GO ID Evidence Qualifier GO_term References
GO:0007274IBA-neuromuscular synaptic transmission-
GO:0030833IBA-regulation of actin filament polymerization-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
FCHSD2CASK11414114627983 Reconstituted Complex
FCHSD2CASK11520514627983 Reconstituted Complex
FCHSD2MAGI111465514627983 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
FCHSD2MAGI111520514627983 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
CCDC85BFCHSD211619816189514 Two-hybrid
CCDC85BFCHSD211520516189514 Two-hybrid
CCDC158FCHSD213096916189514 Two-hybrid
CCDC158FCHSD211520516189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2448475
  • 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