Evidence Detail for RAPGEF4

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Basic Information Top
Gene Symbol:RAPGEF4 ( CAMP-GEFII,CGEF2,EPAC2,Nbla00496 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 4
Band: 2q31-q32
Quick LinksEntrez ID:11069; OMIM: 606058; Uniprot ID:RPGF4_HUMAN; ENSEMBL ID: ENSG00000091428
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 2 (4) 1 (2) 2 (2) 19 (8)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Bacchelli, 2003_1 human bloodASD genetics: mutation screen
  • Subjects: 48
  • Normal Controls: 190
  • Methods: DHPLC
  • Evidence Details: 4 nonsynonymous variants(NM_007023.3:c.602T>C, NM_007023.3:c.2044G>T, NM_007023.3:c.2224G>A, NM_007023.3:c.2534C>G) were only found in patients but not in controls.
Woolfrey, 2009_1 rat spine--- protein function
  • Subjects: cultured rat
  • Normal Controls: -
  • Methods: Quantitative PCR, Western blot, Time-lapse imaging, Coimmunoprecipitation, immunofluorescence
  • Evidence Details: Rare missense mutations in the EPAC2 gene, previously found in individuals with autism, affect basal and neuroligin-stimulated GEF activity, dendritic Rap signaling, synaptic protein distribution, and spine morphology. We found that activation of Epac2, a PKA-independent cAMP target and Rap guanine-nucleotide exchange factor (GEF), in cultured rat cortical neurons induced spine shrinkage, increased spine motility, removed synaptic GluR2/3-containing AMPA receptors and depressed excitatory transmission, whereas its inhibition promoted spine enlargement and stabilization.
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000030 2q31.1 2 D2S2188 3.74 - - Monaco, 2001
AutLD0000071 2q31.1 2 D2S335 1.2 - - Buxbaum, 2001
AutLD0000076 2q31.1-31.3 2 D2S2314/D2S2310 2.54 - - Lamb, 2005
AutLD0000127 2q31.1 2 D2S2381 - - 0.00525 Lauritsen, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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