AutismKB 2.0

Annotation Details for ARHGEF4


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Basic Information Top
Gene Symbol:ARHGEF4 ( ASEF,ASEF1,GEF4,STM6 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 4
Band: 2q21.1
Quick LinksEntrez ID:50649; OMIM: 605216; Uniprot ID:ARHG4_HUMAN; ENSEMBL ID: ENSG00000136002; HGNC ID: 684
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0032587IEA-ruffle membrane-
GO ID Evidence Qualifier GO_term References
GO:0005085IMP-guanyl-nucleotide exchange factor activity17599059
GO:0005085TAS-guanyl-nucleotide exchange factor activity-
GO:0005089TAS-Rho guanyl-nucleotide exchange factor activity-
GO:0005515IPI-protein binding17588722
GO:0019904IPI-protein domain specific binding10947987
GO:0030676IMP-Rac guanyl-nucleotide exchange factor activity17599059
GO ID Evidence Qualifier GO_term References
GO:0030032IMP-lamellipodium assembly17599059
GO:0035023IEA-regulation of Rho protein signal transduction-
GO:0035556IEA-intracellular signal transduction-
GO:0043065TAS-positive regulation of apoptotic process-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0046847IMP-filopodium assembly17599059
GO:0051056TAS-regulation of small GTPase mediated signal transduction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ARHGEF4APC11911410947987 Affinity Capture-Western; Reconstituted Complex
ARHGEF4APC10682110947987 Affinity Capture-Western; Reconstituted Complex
ARHGEF4RHOA11911410947987 Reconstituted Complex
ARHGEF4RHOA10688010947987 Reconstituted Complex
ARHGEF4HLA-B11911420936779 Two-hybrid
ARHGEF4HLA-B10935120936779 Two-hybrid
ARHGEF4RAC111911410947987 20936779 Reconstituted Complex; Two-hybrid
ARHGEF4RAC111181710947987 20936779 Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2442507
  • 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


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