AutismKB 2.0

Annotation Details for RAPGEF4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RAPGEF4 ( CAMP-GEFII,CGEF2,EPAC2,Nbla00496 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 4
Band: 2q31.1
Quick LinksEntrez ID:11069; OMIM: 606058; Uniprot ID:RPGF4_HUMAN; ENSEMBL ID: ENSG00000091428; HGNC ID: 16626
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IEA-cytosol-
GO:0005886TAS-plasma membrane-
GO:0016020TAS-membrane10777494
GO ID Evidence Qualifier GO_term References
GO:0005085EXP-guanyl-nucleotide exchange factor activity15334074
GO:0005088ISS-Ras guanyl-nucleotide exchange factor activity-
GO:0005515IPI-protein binding11438518
GO:0017016ISS-Ras GTPase binding-
GO:0030552ISS-cAMP binding-
GO ID Evidence Qualifier GO_term References
GO:0007186TAS-G-protein coupled receptor signaling pathway9856955
GO:0007264IEA-small GTPase mediated signal transduction-
GO:0017156IEA-calcium ion regulated exocytosis-
GO:0017157IEA-regulation of exocytosis-
GO:0019933IEA-cAMP-mediated signaling-
GO:0030073IEA-insulin secretion-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0050796TAS-regulation of insulin secretion-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
RAPGEF4RAP1A11625310777494 Biochemical Activity
RAPGEF4RAP1A11184110777494 Biochemical Activity
RAPGEF4RAP2A11625310777494 Biochemical Activity
RAPGEF4RAP2A11184610777494 Biochemical Activity
RAPGEF4ABCC811625314660679 Affinity Capture-Western
RAPGEF4ABCC811270014660679 Affinity Capture-Western
RAPGEF4RIMS211625311598134 14660679 Affinity Capture-Western
RAPGEF4RIMS211505111598134 14660679 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1917723
  • 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