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RAP2B (RAP2B, member of RAS oncogene family)

Written2001-05Jean de Gunzburg
Laboratoire de Signalisation Intracellulaire et Oncogenöse INSERM U-528 Institut Curie Section de Recherche 26, rue d'Ulm, 75248 Paris Cedex 05, France

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Identity

HGNC (Hugo) RAP2B
LocusID (NCBI) 5912
Atlas_Id 275
Location 3q25.2  [Link to chromosome band 3q25]
Location_base_pair Starts at 152880001 and ends at 152888413 bp from pter ( according to hg19-Feb_2009)  [Mapping RAP2B.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
DUSP5 (10q25.2) / RAP2B (3q25.2)HNRNPUL1 (19q13.2) / RAP2B (3q25.2)RAP2B (3q25.2) / GABBR1 (6p22.1)
RAP2B (3q25.2) / RAP2B (3q25.2)

DNA/RNA

 
Description The gene contains 1 coding exon only covering 644 bp

Protein

Description Rap2 is a member of the Ras superfamily of monomeric GTPases, closely related to Ras. There are twoisoforms, Rap2A and Rap2B that share 90% identity and are encoded by two different genes. Rap2 proteinsshare 50% identity with Ras proteins, including the regions involved in GDP/GTP binding (hence Rap2A hasvery similar biochemical properties to Ras), C-terminal CAAX domain leading to prenylation (farnesylationfor Rap2A and geranylgeranylation in the case of Rap2B) and palmitoylation. The effector region of Rap2 isvery similar to that of Ras proteins, yet Ras and Rap2 do share seem to share effectors.
Expression ubiquitous ; higher in brain and hemopoietic tissues (especially rich in platelets and meutrophils)
Localisation plasma and/or intracellular membranes (endoplasmic reticulum)
Function unknown
Homology 90% identical to Rap2A, 60% identical to Rap1, 50 % to Ras proteins

Mutations

Germinal unknown

Implicated in

Note
Entity no implication in pathologies characterized so far
  

To be noted

see also RAP family

Bibliography

Rap2 as a slowly responding molecular switch in the Rap1 signaling cascade.
Ohba Y, Mochizuki N, Matsuo K, Yamashita S, Nakaya M, Hashimoto Y, Hamaguchi M, Kurata T, Nagashima K, Matsuda M
Molecular and cellular biology. 2000 ; 20 (16) : 6074-6083.
PMID 10913189
 

Citation

This paper should be referenced as such :
Gunzburg, J de
RAP2B (RAP2B, member of RAS oncogene family)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):178-179.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RAP2BID275.html


External links

Nomenclature
HGNC (Hugo)RAP2B   9862
Cards
AtlasRAP2BID275
Entrez_Gene (NCBI)RAP2B  5912  RAP2B, member of RAS oncogene family
Aliases
GeneCards (Weizmann)RAP2B
Ensembl hg19 (Hinxton)ENSG00000181467 [Gene_View]  chr3:152880001-152888413 [Contig_View]  RAP2B [Vega]
Ensembl hg38 (Hinxton)ENSG00000181467 [Gene_View]  chr3:152880001-152888413 [Contig_View]  RAP2B [Vega]
ICGC DataPortalENSG00000181467
TCGA cBioPortalRAP2B
AceView (NCBI)RAP2B
Genatlas (Paris)RAP2B
WikiGenes5912
SOURCE (Princeton)RAP2B
Genomic and cartography
GoldenPath hg19 (UCSC)RAP2B  -     chr3:152880001-152888413 +  3q25.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RAP2B  -     3q25.2   [Description]    (hg38-Dec_2013)
EnsemblRAP2B - 3q25.2 [CytoView hg19]  RAP2B - 3q25.2 [CytoView hg38]
Mapping of homologs : NCBIRAP2B [Mapview hg19]  RAP2B [Mapview hg38]
OMIM179541   
Gene and transcription
Genbank (Entrez)AF493915 AI718675 AL713766 AW997098 BC012362
RefSeq transcript (Entrez)NM_002886
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)RAP2B
Cluster EST : UnigeneHs.700713 [ NCBI ]
CGAP (NCI)Hs.700713
Alternative Splicing GalleryENSG00000181467
Gene ExpressionRAP2B [ NCBI-GEO ]   RAP2B [ EBI - ARRAY_EXPRESS ]   RAP2B [ SEEK ]   RAP2B [ MEM ]
Gene Expression Viewer (FireBrowse)RAP2B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5912
GTEX Portal (Tissue expression)RAP2B
Protein : pattern, domain, 3D structure
UniProt/SwissProtP61225 (Uniprot)
NextProtP61225  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP61225
Splice isoforms : SwissVarP61225 (Swissvar)
PhosPhoSitePlusP61225
Domaine pattern : Prosite (Expaxy)RAS (PS51421)   
Domains : Interpro (EBI)P-loop_NTPase    Small_GTP-bd_dom    Small_GTPase    Small_GTPase_Ras   
Domain families : Pfam (Sanger)Ras (PF00071)   
Domain families : Pfam (NCBI)pfam00071   
Domain families : Smart (EMBL)RAS (SM00173)  
DMDM Disease mutations5912
Blocks (Seattle)RAP2B
PDB (SRS)1N4P    1N4Q    1N4R   
PDB (PDBSum)1N4P    1N4Q    1N4R   
PDB (IMB)1N4P    1N4Q    1N4R   
PDB (RSDB)1N4P    1N4Q    1N4R   
Structural Biology KnowledgeBase1N4P    1N4Q    1N4R   
SCOP (Structural Classification of Proteins)1N4P    1N4Q    1N4R   
CATH (Classification of proteins structures)1N4P    1N4Q    1N4R   
SuperfamilyP61225
Human Protein AtlasENSG00000181467
Peptide AtlasP61225
HPRD01548
IPIIPI00018364   
Protein Interaction databases
DIP (DOE-UCLA)P61225
IntAct (EBI)P61225
FunCoupENSG00000181467
BioGRIDRAP2B
STRING (EMBL)RAP2B
ZODIACRAP2B
Ontologies - Pathways
QuickGOP61225
Ontology : AmiGOprotein binding  GTP binding  cytosol  plasma membrane  bicellular tight junction  signal transduction  protein transport  membrane  GDP binding  protein domain specific binding  microvillus assembly  platelet activation  negative regulation of cell migration  positive regulation of protein autophosphorylation  Rap protein signal transduction  cell-cell contact zone  membrane raft  recycling endosome membrane  regulation of protein tyrosine kinase activity  extracellular exosome  platelet aggregation  establishment of endothelial intestinal barrier  
Ontology : EGO-EBIprotein binding  GTP binding  cytosol  plasma membrane  bicellular tight junction  signal transduction  protein transport  membrane  GDP binding  protein domain specific binding  microvillus assembly  platelet activation  negative regulation of cell migration  positive regulation of protein autophosphorylation  Rap protein signal transduction  cell-cell contact zone  membrane raft  recycling endosome membrane  regulation of protein tyrosine kinase activity  extracellular exosome  platelet aggregation  establishment of endothelial intestinal barrier  
Pathways : BIOCARTAPhospholipase C-epsilon pathway [Genes]   
NDEx Network
Atlas of Cancer Signalling NetworkRAP2B
Wikipedia pathwaysRAP2B
Orthology - Evolution
OrthoDB5912
GeneTree (enSembl)ENSG00000181467
Phylogenetic Trees/Animal Genes : TreeFamRAP2B
Homologs : HomoloGeneRAP2B
Homology/Alignments : Family Browser (UCSC)RAP2B
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerRAP2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAP2B
dbVarRAP2B
ClinVarRAP2B
1000_GenomesRAP2B 
Exome Variant ServerRAP2B
ExAC (Exome Aggregation Consortium)RAP2B (select the gene name)
Genetic variants : HAPMAP5912
Genomic Variants (DGV)RAP2B [DGVbeta]
Mutations
ICGC Data PortalRAP2B 
TCGA Data PortalRAP2B 
Broad Tumor PortalRAP2B
OASIS PortalRAP2B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAP2B 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RAP2B
DgiDB (Drug Gene Interaction Database)RAP2B
DoCM (Curated mutations)RAP2B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAP2B (select a term)
intoGenRAP2B
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:152880001-152888413  ENSG00000181467
CONAN: Copy Number AnalysisRAP2B 
Mutations and Diseases : HGMDRAP2B
OMIM179541   
MedgenRAP2B
Genetic Testing Registry RAP2B
NextProtP61225 [Medical]
TSGene5912
GENETestsRAP2B
Huge Navigator RAP2B [HugePedia]
snp3D : Map Gene to Disease5912
BioCentury BCIQRAP2B
ClinGenRAP2B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5912
Chemical/Pharm GKB GenePA34223
Clinical trialRAP2B
Miscellaneous
canSAR (ICR)RAP2B (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAP2B
EVEXRAP2B
GoPubMedRAP2B
iHOPRAP2B
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Aug 10 18:43:22 CEST 2016

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