Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RIMBP2 (RIMS binding protein 2)

Identity

Alias_symbol (synonym)KIAA0318
RBP2
MGC15831
RIM-BP2
PPP1R133
Other alias
HGNC (Hugo) RIMBP2
LocusID (NCBI) 23504
Atlas_Id 72645
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 130396136 and ends at 130517865 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
RIMBP2 (12q24.33) / CEP83 (12q22)RIMBP2 (12q24.33) / PWWP2B (10q26.3)

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 ]
  t(12;12)(q22;q24) RIMBP2/CEP83

External links

Nomenclature
HGNC (Hugo)RIMBP2   30339
Cards
Entrez_Gene (NCBI)RIMBP2  23504  RIMS binding protein 2
AliasesPPP1R133; RBP2; RIM-BP2
GeneCards (Weizmann)RIMBP2
Ensembl hg19 (Hinxton)ENSG00000060709 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000060709 [Gene_View]  chr12:130396136-130517865 [Contig_View]  RIMBP2 [Vega]
ICGC DataPortalENSG00000060709
TCGA cBioPortalRIMBP2
AceView (NCBI)RIMBP2
Genatlas (Paris)RIMBP2
WikiGenes23504
SOURCE (Princeton)RIMBP2
Genetics Home Reference (NIH)RIMBP2
Genomic and cartography
GoldenPath hg38 (UCSC)RIMBP2  -     chr12:130396136-130517865 -  12q24.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RIMBP2  -     12q24.33   [Description]    (hg19-Feb_2009)
EnsemblRIMBP2 - 12q24.33 [CytoView hg19]  RIMBP2 - 12q24.33 [CytoView hg38]
Mapping of homologs : NCBIRIMBP2 [Mapview hg19]  RIMBP2 [Mapview hg38]
OMIM611602   
Gene and transcription
Genbank (Entrez)AA911488 AB002316 AI692410 AK307226 AY699979
RefSeq transcript (Entrez)NM_001351226 NM_001351227 NM_001351228 NM_001351229 NM_001351230 NM_001351231 NM_001351232 NM_001351233 NM_015347
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RIMBP2
Cluster EST : UnigeneHs.657441 [ NCBI ]
CGAP (NCI)Hs.657441
Alternative Splicing GalleryENSG00000060709
Gene ExpressionRIMBP2 [ NCBI-GEO ]   RIMBP2 [ EBI - ARRAY_EXPRESS ]   RIMBP2 [ SEEK ]   RIMBP2 [ MEM ]
Gene Expression Viewer (FireBrowse)RIMBP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23504
GTEX Portal (Tissue expression)RIMBP2
Human Protein AtlasENSG00000060709-RIMBP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15034   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15034  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15034
Splice isoforms : SwissVarO15034
PhosPhoSitePlusO15034
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    SH3 (PS50002)   
Domains : Interpro (EBI)FN3_dom    Ig-like_fold    SH3_2    SH3_domain   
Domain families : Pfam (Sanger)SH3_2 (PF07653)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam07653    pfam14604   
Domain families : Smart (EMBL)FN3 (SM00060)  SH3 (SM00326)  
Conserved Domain (NCBI)RIMBP2
DMDM Disease mutations23504
Blocks (Seattle)RIMBP2
PDB (SRS)1WIE    2CSI    2CSP    2CSQ   
PDB (PDBSum)1WIE    2CSI    2CSP    2CSQ   
PDB (IMB)1WIE    2CSI    2CSP    2CSQ   
PDB (RSDB)1WIE    2CSI    2CSP    2CSQ   
Structural Biology KnowledgeBase1WIE    2CSI    2CSP    2CSQ   
SCOP (Structural Classification of Proteins)1WIE    2CSI    2CSP    2CSQ   
CATH (Classification of proteins structures)1WIE    2CSI    2CSP    2CSQ   
SuperfamilyO15034
Human Protein Atlas [tissue]ENSG00000060709-RIMBP2 [tissue]
Peptide AtlasO15034
HPRD17183
IPIIPI00183206   IPI00399314   IPI00399315   IPI01009442   IPI01013060   IPI01018749   
Protein Interaction databases
DIP (DOE-UCLA)O15034
IntAct (EBI)O15034
FunCoupENSG00000060709
BioGRIDRIMBP2
STRING (EMBL)RIMBP2
ZODIACRIMBP2
Ontologies - Pathways
QuickGOO15034
Ontology : AmiGOplasma membrane  negative regulation of phosphatase activity  cell junction  synapse  
Ontology : EGO-EBIplasma membrane  negative regulation of phosphatase activity  cell junction  synapse  
NDEx NetworkRIMBP2
Atlas of Cancer Signalling NetworkRIMBP2
Wikipedia pathwaysRIMBP2
Orthology - Evolution
OrthoDB23504
GeneTree (enSembl)ENSG00000060709
Phylogenetic Trees/Animal Genes : TreeFamRIMBP2
HOVERGENO15034
HOGENOMO15034
Homologs : HomoloGeneRIMBP2
Homology/Alignments : Family Browser (UCSC)RIMBP2
Gene fusions - Rearrangements
Fusion : QuiverRIMBP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRIMBP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RIMBP2
dbVarRIMBP2
ClinVarRIMBP2
1000_GenomesRIMBP2 
Exome Variant ServerRIMBP2
ExAC (Exome Aggregation Consortium)ENSG00000060709
GNOMAD BrowserENSG00000060709
Genetic variants : HAPMAP23504
Genomic Variants (DGV)RIMBP2 [DGVbeta]
DECIPHERRIMBP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRIMBP2 
Mutations
ICGC Data PortalRIMBP2 
TCGA Data PortalRIMBP2 
Broad Tumor PortalRIMBP2
OASIS PortalRIMBP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRIMBP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRIMBP2
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 RIMBP2
DgiDB (Drug Gene Interaction Database)RIMBP2
DoCM (Curated mutations)RIMBP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RIMBP2 (select a term)
intoGenRIMBP2
Cancer3DRIMBP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611602   
Orphanet
DisGeNETRIMBP2
MedgenRIMBP2
Genetic Testing Registry RIMBP2
NextProtO15034 [Medical]
TSGene23504
GENETestsRIMBP2
Target ValidationRIMBP2
Huge Navigator RIMBP2 [HugePedia]
snp3D : Map Gene to Disease23504
BioCentury BCIQRIMBP2
ClinGenRIMBP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23504
Chemical/Pharm GKB GenePA143485594
Clinical trialRIMBP2
Miscellaneous
canSAR (ICR)RIMBP2 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRIMBP2
EVEXRIMBP2
GoPubMedRIMBP2
iHOPRIMBP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:49:27 CET 2018
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