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RAPGEF3 (Rap guanine nucleotide exchange factor 3)

Identity

Alias_namesRAP guanine-nucleotide-exchange factor (GEF) 3
Rap guanine nucleotide exchange factor (GEF) 3
Alias_symbol (synonym)cAMP-GEFI
EPAC
bcm910
Other aliasCAMP-GEFI
EPAC1
HSU79275
HGNC (Hugo) RAPGEF3
LocusID (NCBI) 10411
Atlas_Id 43445
Location 12q13.11  [Link to chromosome band 12q13]
Location_base_pair Starts at 47734670 and ends at 47759106 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ZNF436 (1p36.12) / RAPGEF3 (12q13.11)

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

 


External links

Nomenclature
HGNC (Hugo)RAPGEF3   16629
Cards
Entrez_Gene (NCBI)RAPGEF3  10411  Rap guanine nucleotide exchange factor 3
AliasesCAMP-GEFI; EPAC; EPAC1; HSU79275; 
bcm910
GeneCards (Weizmann)RAPGEF3
Ensembl hg19 (Hinxton)ENSG00000079337 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000079337 [Gene_View]  chr12:47734670-47759106 [Contig_View]  RAPGEF3 [Vega]
ICGC DataPortalENSG00000079337
TCGA cBioPortalRAPGEF3
AceView (NCBI)RAPGEF3
Genatlas (Paris)RAPGEF3
WikiGenes10411
SOURCE (Princeton)RAPGEF3
Genetics Home Reference (NIH)RAPGEF3
Genomic and cartography
GoldenPath hg38 (UCSC)RAPGEF3  -     chr12:47734670-47759106 -  12q13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAPGEF3  -     12q13.11   [Description]    (hg19-Feb_2009)
EnsemblRAPGEF3 - 12q13.11 [CytoView hg19]  RAPGEF3 - 12q13.11 [CytoView hg38]
Mapping of homologs : NCBIRAPGEF3 [Mapview hg19]  RAPGEF3 [Mapview hg38]
OMIM606057   
Gene and transcription
Genbank (Entrez)AF103905 AK055502 AK074444 AK092448 AK125545
RefSeq transcript (Entrez)NM_001098531 NM_001098532 NM_006105
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RAPGEF3
Cluster EST : UnigeneHs.8578 [ NCBI ]
CGAP (NCI)Hs.8578
Alternative Splicing GalleryENSG00000079337
Gene ExpressionRAPGEF3 [ NCBI-GEO ]   RAPGEF3 [ EBI - ARRAY_EXPRESS ]   RAPGEF3 [ SEEK ]   RAPGEF3 [ MEM ]
Gene Expression Viewer (FireBrowse)RAPGEF3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10411
GTEX Portal (Tissue expression)RAPGEF3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95398   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95398  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95398
Splice isoforms : SwissVarO95398
PhosPhoSitePlusO95398
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    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)RAPGEF3
DMDM Disease mutations10411
Blocks (Seattle)RAPGEF3
SuperfamilyO95398
Human Protein AtlasENSG00000079337
Peptide AtlasO95398
HPRD06928
IPIIPI00793799   IPI00329727   IPI00922346   IPI00009942   IPI01021190   IPI00783200   IPI01021620   IPI01021761   IPI01022020   IPI00792853   
Protein Interaction databases
DIP (DOE-UCLA)O95398
IntAct (EBI)O95398
FunCoupENSG00000079337
BioGRIDRAPGEF3
STRING (EMBL)RAPGEF3
ZODIACRAPGEF3
Ontologies - Pathways
QuickGOO95398
Ontology : AmiGOangiogenesis  guanyl-nucleotide exchange factor activity  protein binding  plasma membrane  plasma membrane  microvillus  signal transduction  cell proliferation  endomembrane system  membrane  Rap guanyl-nucleotide exchange factor activity  protein domain specific binding  cAMP-mediated signaling  lamellipodium  filopodium  cAMP binding  positive regulation of cAMP catabolic process  cortical actin cytoskeleton  Rap protein signal transduction  positive regulation of peptidyl-serine phosphorylation  negative regulation of syncytium formation by plasma membrane fusion  positive regulation of GTPase activity  positive regulation of angiogenesis  positive regulation of protein export from nucleus  regulation of insulin secretion  positive regulation of stress fiber assembly  positive regulation of syncytium formation by plasma membrane fusion  establishment of endothelial barrier  extracellular exosome  cellular response to cAMP  positive regulation of protein acetylation  regulation of actin cytoskeleton reorganization  regulation of histone H3-K9 acetylation  
Ontology : EGO-EBIangiogenesis  guanyl-nucleotide exchange factor activity  protein binding  plasma membrane  plasma membrane  microvillus  signal transduction  cell proliferation  endomembrane system  membrane  Rap guanyl-nucleotide exchange factor activity  protein domain specific binding  cAMP-mediated signaling  lamellipodium  filopodium  cAMP binding  positive regulation of cAMP catabolic process  cortical actin cytoskeleton  Rap protein signal transduction  positive regulation of peptidyl-serine phosphorylation  negative regulation of syncytium formation by plasma membrane fusion  positive regulation of GTPase activity  positive regulation of angiogenesis  positive regulation of protein export from nucleus  regulation of insulin secretion  positive regulation of stress fiber assembly  positive regulation of syncytium formation by plasma membrane fusion  establishment of endothelial barrier  extracellular exosome  cellular response to cAMP  positive regulation of protein acetylation  regulation of actin cytoskeleton reorganization  regulation of histone H3-K9 acetylation  
Pathways : KEGGRap1 signaling pathway    Adrenergic signaling in cardiomyocytes    Leukocyte transendothelial migration    Long-term potentiation    Serotonergic synapse   
NDEx NetworkRAPGEF3
Atlas of Cancer Signalling NetworkRAPGEF3
Wikipedia pathwaysRAPGEF3
Orthology - Evolution
OrthoDB10411
GeneTree (enSembl)ENSG00000079337
Phylogenetic Trees/Animal Genes : TreeFamRAPGEF3
HOVERGENO95398
HOGENOMO95398
Homologs : HomoloGeneRAPGEF3
Homology/Alignments : Family Browser (UCSC)RAPGEF3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAPGEF3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAPGEF3
dbVarRAPGEF3
ClinVarRAPGEF3
1000_GenomesRAPGEF3 
Exome Variant ServerRAPGEF3
ExAC (Exome Aggregation Consortium)RAPGEF3 (select the gene name)
Genetic variants : HAPMAP10411
Genomic Variants (DGV)RAPGEF3 [DGVbeta]
DECIPHERRAPGEF3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRAPGEF3 
Mutations
ICGC Data PortalRAPGEF3 
TCGA Data PortalRAPGEF3 
Broad Tumor PortalRAPGEF3
OASIS PortalRAPGEF3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAPGEF3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRAPGEF3
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 RAPGEF3
DgiDB (Drug Gene Interaction Database)RAPGEF3
DoCM (Curated mutations)RAPGEF3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAPGEF3 (select a term)
intoGenRAPGEF3
Cancer3DRAPGEF3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606057   
Orphanet
MedgenRAPGEF3
Genetic Testing Registry RAPGEF3
NextProtO95398 [Medical]
TSGene10411
GENETestsRAPGEF3
Target ValidationRAPGEF3
Huge Navigator RAPGEF3 [HugePedia]
snp3D : Map Gene to Disease10411
BioCentury BCIQRAPGEF3
ClinGenRAPGEF3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10411
Chemical/Pharm GKB GenePA134910959
Clinical trialRAPGEF3
Miscellaneous
canSAR (ICR)RAPGEF3 (select the gene name)
Probes
Litterature
PubMed136 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAPGEF3
EVEXRAPGEF3
GoPubMedRAPGEF3
iHOPRAPGEF3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:52:33 CEST 2017

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