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RAPGEF2 (Rap guanine nucleotide exchange factor 2)

Identity

Alias_namesPDZGEF1
PDZ domain containing guanine nucleotide exchange factor (GEF) 1
Rap guanine nucleotide exchange factor (GEF) 2
Alias_symbol (synonym)PDZ-GEF1
RA-GEF
DKFZP586O1422
KIAA0313
Other aliasCNrasGEF
NRAPGEP
RA-GEF-1
Rap-GEP
nRap GEP
HGNC (Hugo) RAPGEF2
LocusID (NCBI) 9693
Atlas_Id 42046
Location 4q32.1  [Link to chromosome band 4q32]
Location_base_pair Starts at 160188998 and ends at 160281301 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RAPGEF2 (4q32.1) / IREB2 (15q25.1)RAPGEF2 (4q32.1) / OCIAD2 (4p11)RAPGEF2 4q32.1 / OCIAD2 4p11

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)RAPGEF2   16854
Cards
Entrez_Gene (NCBI)RAPGEF2  9693  Rap guanine nucleotide exchange factor 2
AliasesCNrasGEF; NRAPGEP; PDZ-GEF1; PDZGEF1; 
RA-GEF; RA-GEF-1; Rap-GEP; nRap
GeneCards (Weizmann)RAPGEF2
Ensembl hg19 (Hinxton)ENSG00000109756 [Gene_View]  chr4:160188998-160281301 [Contig_View]  RAPGEF2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000109756 [Gene_View]  chr4:160188998-160281301 [Contig_View]  RAPGEF2 [Vega]
ICGC DataPortalENSG00000109756
TCGA cBioPortalRAPGEF2
AceView (NCBI)RAPGEF2
Genatlas (Paris)RAPGEF2
WikiGenes9693
SOURCE (Princeton)RAPGEF2
Genetics Home Reference (NIH)RAPGEF2
Genomic and cartography
GoldenPath hg19 (UCSC)RAPGEF2  -     chr4:160188998-160281301 +  4q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RAPGEF2  -     4q32.1   [Description]    (hg38-Dec_2013)
EnsemblRAPGEF2 - 4q32.1 [CytoView hg19]  RAPGEF2 - 4q32.1 [CytoView hg38]
Mapping of homologs : NCBIRAPGEF2 [Mapview hg19]  RAPGEF2 [Mapview hg38]
OMIM609530   
Gene and transcription
Genbank (Entrez)AB002311 AF070570 AK294459 AL117397 BC110355
RefSeq transcript (Entrez)NM_014247
RefSeq genomic (Entrez)NC_000004 NC_018915 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)RAPGEF2
Cluster EST : UnigeneHs.744884 [ NCBI ]
CGAP (NCI)Hs.744884
Alternative Splicing GalleryENSG00000109756
Gene ExpressionRAPGEF2 [ NCBI-GEO ]   RAPGEF2 [ EBI - ARRAY_EXPRESS ]   RAPGEF2 [ SEEK ]   RAPGEF2 [ MEM ]
Gene Expression Viewer (FireBrowse)RAPGEF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9693
GTEX Portal (Tissue expression)RAPGEF2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4G8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4G8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4G8
Splice isoforms : SwissVarQ9Y4G8
PhosPhoSitePlusQ9Y4G8
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_3 (PS50042)    PDZ (PS50106)    RA (PS50200)    RASGEF_CAT (PS50009)    RASGEF_NTER (PS50212)   
Domains : Interpro (EBI)cNMP-bd-like    cNMP-bd_dom    PDZ    RA_dom    RapGEF2    Ras-like_Gua-exchang_fac_N    Ras_GEF_dom    RASGEF_cat_dom    RmlC-like_jellyroll    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)PDZ (PF00595)    RA (PF00788)    RasGEF (PF00617)    RasGEF_N (PF00618)   
Domain families : Pfam (NCBI)pfam00595    pfam00788    pfam00617    pfam00618   
Domain families : Smart (EMBL)cNMP (SM00100)  PDZ (SM00228)  RA (SM00314)  RasGEF (SM00147)  RasGEFN (SM00229)  
Conserved Domain (NCBI)RAPGEF2
DMDM Disease mutations9693
Blocks (Seattle)RAPGEF2
SuperfamilyQ9Y4G8
Human Protein AtlasENSG00000109756
Peptide AtlasQ9Y4G8
IPIIPI00853219   IPI00967108   IPI00965195   IPI00964687   IPI00964164   IPI00965504   IPI00963883   IPI00966920   IPI00966035   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4G8
IntAct (EBI)Q9Y4G8
FunCoupENSG00000109756
BioGRIDRAPGEF2
STRING (EMBL)RAPGEF2
ZODIACRAPGEF2
Ontologies - Pathways
QuickGOQ9Y4G8
Ontology : AmiGOMAPK cascade  MAPK cascade  blood vessel development  neuron migration  signal transducer activity  Ras guanyl-nucleotide exchange factor activity  Ras guanyl-nucleotide exchange factor activity  GTPase activator activity  calcium ion binding  protein binding  cytoplasm  late endosome  cytosol  cytosol  plasma membrane  integral component of plasma membrane  cell-cell junction  bicellular tight junction  G-protein coupled receptor signaling pathway  neuropeptide signaling pathway  small GTPase mediated signal transduction  negative regulation of cell proliferation  positive regulation of neuron projection development  membrane  apical plasma membrane  Rap guanyl-nucleotide exchange factor activity  Rap guanyl-nucleotide exchange factor activity  cAMP-mediated signaling  cAMP-mediated signaling  diacylglycerol binding  ventricular system development  forebrain neuron development  microvillus assembly  endocytic vesicle  PDZ domain binding  cAMP binding  cAMP binding  cGMP binding  neuron projection development  brain-derived neurotrophic factor receptor signaling pathway  beta-1 adrenergic receptor binding  positive regulation of protein binding  Rap protein signal transduction  intracellular signal transduction  nerve growth factor signaling pathway  neuron projection  neuronal cell body  protein complex  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of cAMP-mediated signaling  synapse  positive regulation of protein kinase activity  negative regulation of melanin biosynthetic process  regulation of synaptic plasticity  perinuclear region of cytoplasm  WW domain binding  negative regulation of dendrite morphogenesis  establishment of endothelial barrier  phosphatidic acid binding  positive regulation of ERK1 and ERK2 cascade  cellular response to cAMP  cellular response to cGMP  adenylate cyclase-activating adrenergic receptor signaling pathway  protein localization to plasma membrane  establishment of endothelial intestinal barrier  regulation of cell junction assembly  cellular response to nerve growth factor stimulus  positive regulation of cAMP-dependent protein kinase activity  positive regulation of dendritic cell apoptotic process  positive regulation of vasculogenesis  positive regulation of neuron migration  
Ontology : EGO-EBIMAPK cascade  MAPK cascade  blood vessel development  neuron migration  signal transducer activity  Ras guanyl-nucleotide exchange factor activity  Ras guanyl-nucleotide exchange factor activity  GTPase activator activity  calcium ion binding  protein binding  cytoplasm  late endosome  cytosol  cytosol  plasma membrane  integral component of plasma membrane  cell-cell junction  bicellular tight junction  G-protein coupled receptor signaling pathway  neuropeptide signaling pathway  small GTPase mediated signal transduction  negative regulation of cell proliferation  positive regulation of neuron projection development  membrane  apical plasma membrane  Rap guanyl-nucleotide exchange factor activity  Rap guanyl-nucleotide exchange factor activity  cAMP-mediated signaling  cAMP-mediated signaling  diacylglycerol binding  ventricular system development  forebrain neuron development  microvillus assembly  endocytic vesicle  PDZ domain binding  cAMP binding  cAMP binding  cGMP binding  neuron projection development  brain-derived neurotrophic factor receptor signaling pathway  beta-1 adrenergic receptor binding  positive regulation of protein binding  Rap protein signal transduction  intracellular signal transduction  nerve growth factor signaling pathway  neuron projection  neuronal cell body  protein complex  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of cAMP-mediated signaling  synapse  positive regulation of protein kinase activity  negative regulation of melanin biosynthetic process  regulation of synaptic plasticity  perinuclear region of cytoplasm  WW domain binding  negative regulation of dendrite morphogenesis  establishment of endothelial barrier  phosphatidic acid binding  positive regulation of ERK1 and ERK2 cascade  cellular response to cAMP  cellular response to cGMP  adenylate cyclase-activating adrenergic receptor signaling pathway  protein localization to plasma membrane  establishment of endothelial intestinal barrier  regulation of cell junction assembly  cellular response to nerve growth factor stimulus  positive regulation of cAMP-dependent protein kinase activity  positive regulation of dendritic cell apoptotic process  positive regulation of vasculogenesis  positive regulation of neuron migration  
Pathways : BIOCARTAMAPKinase Signaling Pathway [Genes]    p38 MAPK Signaling Pathway [Genes]   
Pathways : KEGGMAPK signaling pathway    Rap1 signaling pathway   
NDEx NetworkRAPGEF2
Atlas of Cancer Signalling NetworkRAPGEF2
Wikipedia pathwaysRAPGEF2
Orthology - Evolution
OrthoDB9693
GeneTree (enSembl)ENSG00000109756
Phylogenetic Trees/Animal Genes : TreeFamRAPGEF2
HOVERGENQ9Y4G8
HOGENOMQ9Y4G8
Homologs : HomoloGeneRAPGEF2
Homology/Alignments : Family Browser (UCSC)RAPGEF2
Gene fusions - Rearrangements
Fusion : MitelmanRAPGEF2/OCIAD2 [4q32.1/4p11]  
Fusion: TCGARAPGEF2 4q32.1 OCIAD2 4p11 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAPGEF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAPGEF2
dbVarRAPGEF2
ClinVarRAPGEF2
1000_GenomesRAPGEF2 
Exome Variant ServerRAPGEF2
ExAC (Exome Aggregation Consortium)RAPGEF2 (select the gene name)
Genetic variants : HAPMAP9693
Genomic Variants (DGV)RAPGEF2 [DGVbeta]
DECIPHER (Syndromes)4:160188998-160281301  ENSG00000109756
CONAN: Copy Number AnalysisRAPGEF2 
Mutations
ICGC Data PortalRAPGEF2 
TCGA Data PortalRAPGEF2 
Broad Tumor PortalRAPGEF2
OASIS PortalRAPGEF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAPGEF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRAPGEF2
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 RAPGEF2
DgiDB (Drug Gene Interaction Database)RAPGEF2
DoCM (Curated mutations)RAPGEF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAPGEF2 (select a term)
intoGenRAPGEF2
Cancer3DRAPGEF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609530   
Orphanet
MedgenRAPGEF2
Genetic Testing Registry RAPGEF2
NextProtQ9Y4G8 [Medical]
TSGene9693
GENETestsRAPGEF2
Huge Navigator RAPGEF2 [HugePedia]
snp3D : Map Gene to Disease9693
BioCentury BCIQRAPGEF2
ClinGenRAPGEF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9693
Chemical/Pharm GKB GenePA130413152
Clinical trialRAPGEF2
Miscellaneous
canSAR (ICR)RAPGEF2 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAPGEF2
EVEXRAPGEF2
GoPubMedRAPGEF2
iHOPRAPGEF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:24:23 CET 2017

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