AutismKB 2.0

Annotation Details for ARHGEF12


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Basic Information Top
Gene Symbol:ARHGEF12 ( DKFZp686O2372,KIAA0382,LARG,PRO2792 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 12
Band: 11q23.3
Quick LinksEntrez ID:23365; OMIM: 604763; Uniprot ID:ARHGC_HUMAN; ENSEMBL ID: ENSG00000196914; HGNC ID: 14193
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm15755723
GO:0005829TAS-cytosol-
GO:0016020IEA-membrane-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0001664IDA-G-protein coupled receptor binding15755723
GO:0005085TAS-guanyl-nucleotide exchange factor activity-
GO:0005089TAS-Rho guanyl-nucleotide exchange factor activity-
GO:0005096IEA-GTPase activator activity-
GO:0005515IPI-protein binding11724822
GO ID Evidence Qualifier GO_term References
GO:0007186IDA-G-protein coupled receptor signaling pathway15755723
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:0051056TAS-regulation of small GTPase mediated signal transduction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ARHGEF12RHOA11694511373293 12515866 Reconstituted Complex
ARHGEF12RHOA10688011373293 12515866 Reconstituted Complex
ARHGEF12GNA1211694511094164 12515866 Affinity Capture-Western; Phenotypic Enhancement
ARHGEF12GNA1210903011094164 12515866 Affinity Capture-Western; Phenotypic Enhancement
ARHGEF12IGF1R11694511724822 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
ARHGEF12IGF1R10970111724822 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
ARHGEF12PLXNB111694512220504 Affinity Capture-Western; Two-hybrid
ARHGEF12PLXNB111137712220504 Affinity Capture-Western; Two-hybrid
ARHGEF12TEC11694512515866 Biochemical Activity; Phenotypic Enhancement
ARHGEF12TEC11286512515866 Biochemical Activity; Phenotypic Enhancement
ARHGEF12GNA1311694511094164 12515866 Affinity Capture-Western; Phenotypic Enhancement
ARHGEF12GNA1311591411094164 12515866 Affinity Capture-Western; Phenotypic Enhancement
PLXNB2ARHGEF1211694512183458 Affinity Capture-Western
PLXNB2ARHGEF1211717812183458 Affinity Capture-Western
ARHGEF12ARHGEF1211694514712228 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1916882
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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