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RBL2 (retinoblastoma-like 2)

Written2004-03Giuseppe Russo, Antonio Giordano, Pier Paolo Claudio
Temple University, Center for Biotechnology, Department of Biology, 1900 N. 12th Street, Rm. 333, Philadelphia, PA 19122, USA

(Note : for Links provided by Atlas : click)

Identity

Other namesP130
Rb2
HGNC (Hugo) RBL2
LocusID (NCBI) 5934
Atlas_Id 443
Location 16q12.2
Location_base_pair Starts at 53468351 and ends at 53525560 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Fusion genes
(updated 2015)
FTO (16q12.2) / RBL2 (16q12.2)

DNA/RNA

 
  Exons are represented by solid blue rectangles and introns by black bars. The drawing is not in scale. The positions of the A and B domains, which contain the pocket domain, in the Rb2/p130 gene, are indicated.
Description The gene is composed of 22 exons spanning in a region of 57.159 bp (Localized from 53,246,963 to 53,304,161 from pter).
Transcription The sequence is supported by 286 sequences from 262 cDNA clones and produces, by alternative splicing, 9 different protein isoforms. The transcripts differ by truncation of the N-terminus, truncation of the C-terminus, presence or absence of a cassette exon, common exons with different boundaries.
Pseudogene None

Protein

Note pRb2/p130,130 kDa retinoblastoma-associated protein, PRB2, P130, RBR-2
 
Description pRb2/p130 belongs to the retinoblastoma (RB) family of proteins. Amino acids: 1139; Molecular Weight: 128356 Dalton. The phosphorylation on Ser-672 in G1 leads to its ubiquitin-dependent proteolysis.
Expression pRb2/p130 is ubiquitously expressed in normal tissues.
Localisation Nuclear
Function pRb2/p130 acts as a tumor suppressor and it is a potent inhibitor of E2F-mediated trans-activation. pRb2/p130 may have a function in cell cycle regulation, proliferation and differentiation during human placental development.
Homology The percent Identity below represents identity over an aligned region using pairwise alignment function of ClustalW software.
M. musculus : 92 (Percentage Identity)
R. norvegicus : 91
D. melanogaster : 27
A. thaliana : 23
C. elegans : 22

Implicated in

Note
Entity This oncosuppressor gene is involved in Breast Cancer, Burkitt's lymphomas, Choroidal melanoma, Endometrial Cancer, Lung Cancer, Malignant Lymphomas, Mesothelioma, Glioblastoma, Ovarian Cancer, Oral malignant melanoma, Vulvar Carcinoma.
Note Recent studies show a link between pRb2/p130 and chromatin-modifying enzymes in the regulation of estrogen receptor-alpha transcription. pRb2/p130 expression predicts outcome in squamous cell carcinoma of the esophagus, lung, mouth and endometrium carcinomas. Analyses of gene expression profiles identified pRb2/p130 target genes in non-small-cell lung neoplasms. HIV-1/pRb2/p130 interaction may be a possible mechanism in the pathogenesis of AIDS-related lymphomas. pRb2/p130 and its truncated form might substitute Rb in mediating p53-induced cell cycle arrest in Rb(-/-) Saos2 cells. Some reports have shown that pRb2/p130 turn-over is regulated by Cdk-dependent G1 phosphorylation.
  

Citation

This paper should be referenced as such :
Russo, G ; Giordano, A ; Claudio, PP
RBL2 (retinoblastoma-like 2)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):67-68.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RBL2ID443.html


Other Solid tumors implicated (Data extracted from papers in the Atlas)
  Head and neck: Retinoblastoma

External links

Nomenclature
HGNC (Hugo)RBL2   9894
Cards
AtlasRBL2ID443
Entrez_Gene (NCBI)RBL2  5934  retinoblastoma-like 2
GeneCards (Weizmann)RBL2
Ensembl hg19 (Hinxton)ENSG00000103479 [Gene_View]  chr16:53468351-53525560 [Contig_View]  RBL2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000103479 [Gene_View]  chr16:53468351-53525560 [Contig_View]  RBL2 [Vega]
ICGC DataPortalENSG00000103479
TCGA cBioPortalRBL2
AceView (NCBI)RBL2
Genatlas (Paris)RBL2
WikiGenes5934
SOURCE (Princeton)RBL2
Genomic and cartography
GoldenPath hg19 (UCSC)RBL2  -     chr16:53468351-53525560 +  16q12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RBL2  -     16q12.2   [Description]    (hg38-Dec_2013)
EnsemblRBL2 - 16q12.2 [CytoView hg19]  RBL2 - 16q12.2 [CytoView hg38]
Mapping of homologs : NCBIRBL2 [Mapview hg19]  RBL2 [Mapview hg38]
OMIM180203   
Gene and transcription
Genbank (Entrez)AK129969 AK300047 AK304283 AK307881 BC034490
RefSeq transcript (Entrez)NM_005611
RefSeq genomic (Entrez)NC_000016 NC_018927 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)RBL2
Cluster EST : UnigeneHs.513609 [ NCBI ]
CGAP (NCI)Hs.513609
Alternative Splicing : Fast-db (Paris)GSHG0011189
Alternative Splicing GalleryENSG00000103479
Gene ExpressionRBL2 [ NCBI-GEO ]     RBL2 [ SEEK ]   RBL2 [ MEM ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)5934
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08999 (Uniprot)
NextProtQ08999  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08999
Splice isoforms : SwissVarQ08999 (Swissvar)
PhosPhoSitePlusQ08999
Domains : Interpro (EBI)Cyclin-like    RB2    RB_A    RB_B    RB_fam    RB_N   
Domain families : Pfam (Sanger)DUF3452 (PF11934)    RB_A (PF01858)    RB_B (PF01857)   
Domain families : Pfam (NCBI)pfam11934    pfam01858    pfam01857   
Domain families : Smart (EMBL)CYCLIN (SM00385)  
DMDM Disease mutations5934
Blocks (Seattle)RBL2
Human Protein AtlasENSG00000103479
Peptide AtlasQ08999
HPRD01576
IPIIPI00304028   IPI00922321   IPI00643814   IPI01011272   
Protein Interaction databases
DIP (DOE-UCLA)Q08999
IntAct (EBI)Q08999
FunCoupENSG00000103479
BioGRIDRBL2
IntegromeDBRBL2
STRING (EMBL)RBL2
ZODIACRBL2
Ontologies - Pathways
QuickGOQ08999
Ontology : AmiGOmitotic cell cycle  DNA binding  protein binding  nucleus  nucleoplasm  transcription factor complex  nucleolus  cytoplasm  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  chromatin modification  regulation of lipid kinase activity  regulation of cell cycle  extracellular exosome  
Ontology : EGO-EBImitotic cell cycle  DNA binding  protein binding  nucleus  nucleoplasm  transcription factor complex  nucleolus  cytoplasm  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  chromatin modification  regulation of lipid kinase activity  regulation of cell cycle  extracellular exosome  
Pathways : KEGGFoxO signaling pathway    Cell cycle    PI3K-Akt signaling pathway    Viral carcinogenesis   
REACTOMEQ08999 [protein]
REACTOME PathwaysR-HSA-69231 Cyclin D associated events in G1 [pathway]
REACTOME PathwaysR-HSA-1538133 G0 and Early G1 [pathway]
Protein Interaction DatabaseRBL2
Atlas of Cancer Signalling NetworkRBL2
Wikipedia pathwaysRBL2
Orthology - Evolution
OrthoDB5934
GeneTree (enSembl)ENSG00000103479
Phylogenetic Trees/Animal Genes : TreeFamRBL2
Gene fusions - Rearrangements
Fusion : MitelmanFTO/RBL2 [16q12.2/16q12.2]  [t(16;16)(q12;q12)]  
Fusion: TCGAFTO 16q12.2 RBL2 16q12.2 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerRBL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RBL2
dbVarRBL2
ClinVarRBL2
1000_GenomesRBL2 
Exome Variant ServerRBL2
SNP (GeneSNP Utah)RBL2
SNP : HGBaseRBL2
Genetic variants : HAPMAPRBL2
Genomic Variants (DGV)RBL2 [DGVbeta]
Mutations
ICGC Data PortalRBL2 
TCGA Data PortalRBL2 
Tumor PortalRBL2
TCGA Copy Number PortalRBL2
Somatic Mutations in Cancer : COSMICRBL2 
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 RBL2
DgiDB (Drug Gene Interaction Database)RBL2
DoCM (Curated mutations)RBL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RBL2 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:53468351-53525560
CONAN: Copy Number AnalysisRBL2 
Mutations and Diseases : HGMDRBL2
OMIM180203   
MedgenRBL2
NextProtQ08999 [Medical]
TSGene5934
GENETestsRBL2
Huge Navigator RBL2 [HugePedia]  RBL2 [HugeCancerGEM]
snp3D : Map Gene to Disease5934
BioCentury BCIQRBL2
General knowledge
Homologs : HomoloGeneRBL2
Homology/Alignments : Family Browser (UCSC)RBL2
Chemical/Protein Interactions : CTD5934
Chemical/Pharm GKB GenePA34258
Clinical trialRBL2
Other databases
Other databaseASAP
Other databaseEASED
Other databaseCGED
Other databaseHGVD
Other databaseJSNP
Other databaseCleanEx
Probes
Litterature
PubMed146 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRBL2
GoPubMedRBL2
iHOPRBL2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jan 29 18:30:53 CET 2016

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