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RAPGEF4 (Rap guanine nucleotide exchange factor 4)

Identity

Alias_namesRAP guanine-nucleotide-exchange factor (GEF) 4
Rap guanine nucleotide exchange factor (GEF) 4
Alias_symbol (synonym)cAMP-GEFII
CGEF2
Other aliasCAMP-GEFII
EPAC
EPAC 2
EPAC2
Nbla00496
HGNC (Hugo) RAPGEF4
LocusID (NCBI) 11069
Atlas_Id 51540
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 173686315 and ends at 173917620 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AC013461.1 () / RAPGEF4 (2q31.1)ARID1B (6q25.3) / RAPGEF4 (2q31.1)DGKI (7q33) / RAPGEF4 (2q31.1)
RAPGEF4 (2q31.1) / PGA3 (11q12.2)RCAN2 (6p21.1) / RAPGEF4 (2q31.1)AC013461.1 RAPGEF4 2q31.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)RAPGEF4   16626
Cards
Entrez_Gene (NCBI)RAPGEF4  11069  Rap guanine nucleotide exchange factor 4
AliasesCAMP-GEFII; CGEF2; EPAC; EPAC; 
EPAC2; Nbla00496
GeneCards (Weizmann)RAPGEF4
Ensembl hg19 (Hinxton)ENSG00000091428 [Gene_View]  chr2:173686315-173917620 [Contig_View]  RAPGEF4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000091428 [Gene_View]  chr2:173686315-173917620 [Contig_View]  RAPGEF4 [Vega]
ICGC DataPortalENSG00000091428
TCGA cBioPortalRAPGEF4
AceView (NCBI)RAPGEF4
Genatlas (Paris)RAPGEF4
WikiGenes11069
SOURCE (Princeton)RAPGEF4
Genetics Home Reference (NIH)RAPGEF4
Genomic and cartography
GoldenPath hg19 (UCSC)RAPGEF4  -     chr2:173686315-173917620 +  2q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RAPGEF4  -     2q31.1   [Description]    (hg38-Dec_2013)
EnsemblRAPGEF4 - 2q31.1 [CytoView hg19]  RAPGEF4 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBIRAPGEF4 [Mapview hg19]  RAPGEF4 [Mapview hg38]
OMIM606058   
Gene and transcription
Genbank (Entrez)AB027471 AB075513 AB209681 AK294433 AK294445
RefSeq transcript (Entrez)NM_001100397 NM_001282899 NM_001282900 NM_001282901 NM_007023
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)RAPGEF4
Cluster EST : UnigeneHs.470646 [ NCBI ]
CGAP (NCI)Hs.470646
Alternative Splicing GalleryENSG00000091428
Gene ExpressionRAPGEF4 [ NCBI-GEO ]   RAPGEF4 [ EBI - ARRAY_EXPRESS ]   RAPGEF4 [ SEEK ]   RAPGEF4 [ MEM ]
Gene Expression Viewer (FireBrowse)RAPGEF4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11069
GTEX Portal (Tissue expression)RAPGEF4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WZA2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WZA2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WZA2
Splice isoforms : SwissVarQ8WZA2
PhosPhoSitePlusQ8WZA2
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_3 (PS50042)    DEP (PS50186)    RASGEF (PS00720)    RASGEF_CAT (PS50009)    RASGEF_NTER (PS50212)   
Domains : Interpro (EBI)cNMP-bd-like    cNMP-bd_dom    DEP_dom    RAPGEF4    Ras-like_Gua-exchang_fac_N    Ras_G-nucl-exch_fac_CS    Ras_GEF_dom    RASGEF_cat_dom    RmlC-like_jellyroll    Ubiquitin-rel_dom    WHTH_DNA-bd_dom   
Domain families : Pfam (Sanger)cNMP_binding (PF00027)    DEP (PF00610)    RasGEF (PF00617)    RasGEF_N (PF00618)   
Domain families : Pfam (NCBI)pfam00027    pfam00610    pfam00617    pfam00618   
Domain families : Smart (EMBL)cNMP (SM00100)  DEP (SM00049)  RasGEF (SM00147)  RasGEFN (SM00229)  
Conserved Domain (NCBI)RAPGEF4
DMDM Disease mutations11069
Blocks (Seattle)RAPGEF4
SuperfamilyQ8WZA2
Human Protein AtlasENSG00000091428
Peptide AtlasQ8WZA2
HPRD06929
IPIIPI00329560   IPI00329562   IPI00329561   IPI01015080   IPI01023075   IPI01015484   IPI01010200   IPI00938407   IPI00915793   
Protein Interaction databases
DIP (DOE-UCLA)Q8WZA2
IntAct (EBI)Q8WZA2
FunCoupENSG00000091428
BioGRIDRAPGEF4
STRING (EMBL)RAPGEF4
ZODIACRAPGEF4
Ontologies - Pathways
QuickGOQ8WZA2
Ontology : AmiGOguanyl-nucleotide exchange factor activity  Ras guanyl-nucleotide exchange factor activity  protein binding  cytosol  plasma membrane  G-protein coupled receptor signaling pathway  small GTPase mediated signal transduction  membrane  Ras GTPase binding  calcium ion regulated exocytosis  regulation of exocytosis  cAMP-mediated signaling  insulin secretion  cAMP binding  positive regulation of GTPase activity  regulation of insulin secretion  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  Ras guanyl-nucleotide exchange factor activity  protein binding  cytosol  plasma membrane  G-protein coupled receptor signaling pathway  small GTPase mediated signal transduction  membrane  Ras GTPase binding  calcium ion regulated exocytosis  regulation of exocytosis  cAMP-mediated signaling  insulin secretion  cAMP binding  positive regulation of GTPase activity  regulation of insulin secretion  
Pathways : KEGGRap1 signaling pathway    Adrenergic signaling in cardiomyocytes    Leukocyte transendothelial migration    Insulin secretion   
NDEx NetworkRAPGEF4
Atlas of Cancer Signalling NetworkRAPGEF4
Wikipedia pathwaysRAPGEF4
Orthology - Evolution
OrthoDB11069
GeneTree (enSembl)ENSG00000091428
Phylogenetic Trees/Animal Genes : TreeFamRAPGEF4
HOVERGENQ8WZA2
HOGENOMQ8WZA2
Homologs : HomoloGeneRAPGEF4
Homology/Alignments : Family Browser (UCSC)RAPGEF4
Gene fusions - Rearrangements
Fusion : MitelmanRCAN2/RAPGEF4 [6p21.1/2q31.1]  [t(2;6)(q31;p12)]  
Fusion: TCGAAC013461.1 RAPGEF4 2q31.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAPGEF4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAPGEF4
dbVarRAPGEF4
ClinVarRAPGEF4
1000_GenomesRAPGEF4 
Exome Variant ServerRAPGEF4
ExAC (Exome Aggregation Consortium)RAPGEF4 (select the gene name)
Genetic variants : HAPMAP11069
Genomic Variants (DGV)RAPGEF4 [DGVbeta]
DECIPHER (Syndromes)2:173686315-173917620  ENSG00000091428
CONAN: Copy Number AnalysisRAPGEF4 
Mutations
ICGC Data PortalRAPGEF4 
TCGA Data PortalRAPGEF4 
Broad Tumor PortalRAPGEF4
OASIS PortalRAPGEF4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAPGEF4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRAPGEF4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RAPGEF4
DgiDB (Drug Gene Interaction Database)RAPGEF4
DoCM (Curated mutations)RAPGEF4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAPGEF4 (select a term)
intoGenRAPGEF4
Cancer3DRAPGEF4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606058   
Orphanet
MedgenRAPGEF4
Genetic Testing Registry RAPGEF4
NextProtQ8WZA2 [Medical]
TSGene11069
GENETestsRAPGEF4
Huge Navigator RAPGEF4 [HugePedia]
snp3D : Map Gene to Disease11069
BioCentury BCIQRAPGEF4
ClinGenRAPGEF4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11069
Chemical/Pharm GKB GenePA134861108
Clinical trialRAPGEF4
Miscellaneous
canSAR (ICR)RAPGEF4 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAPGEF4
EVEXRAPGEF4
GoPubMedRAPGEF4
iHOPRAPGEF4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 15:16:54 CEST 2017

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