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RBL2 (retinoblastoma-like 2)

Identity

Other namesPRB2
RBR-2
130 kDa retinoblastoma-associated protein
H. sapiens p130 mRNA for 130K protein
P130
Retinoblastoma-related gene RB2
Rb2
Retinoblastoma-like protein 2
HGNC (Hugo) RBL2
LocusID (NCBI) 5934
Location 16q12.2
Location_base_pair Starts at 53468351 and ends at 53525560 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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

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.
  

External links

Nomenclature
HGNC (Hugo)RBL2   9894
Cards
AtlasRBL2ID443
Entrez_Gene (NCBI)RBL2  5934  retinoblastoma-like 2
GeneCards (Weizmann)RBL2
Ensembl (Hinxton)ENSG00000103479 [Gene_View]  chr16:53468351-53525560 [Contig_View]  RBL2 [Vega]
ICGC DataPortalENSG00000103479
AceView (NCBI)RBL2
Genatlas (Paris)RBL2
WikiGenes5934
SOURCE (Princeton)NM_005611
Genomic and cartography
GoldenPath (UCSC)RBL2  -  16q12.2   chr16:53468351-53525560 +  16q12.2   [Description]    (hg19-Feb_2009)
EnsemblRBL2 - 16q12.2 [CytoView]
Mapping of homologs : NCBIRBL2 [Mapview]
OMIM180203   
Gene and transcription
Genbank (Entrez)AK129969 AK300047 AK304283 AK307881 BC034490
RefSeq transcript (Entrez)NM_005611
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NT_010498 NW_001838289 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08999 (Uniprot)
NextProtQ08999  [Medical]
With graphics : InterProQ08999
Splice isoforms : SwissVarQ08999 (Swissvar)
Domains : Interpro (EBI)Cyclin-like    RB2    RB_A    RB_B    RB_fam    RB_N   
Related proteins : CluSTrQ08999
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)Q08999
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
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 vesicular 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 vesicular exosome  
Pathways : KEGGFoxO signaling pathway    Cell cycle    PI3K-Akt signaling pathway    Viral carcinogenesis   
REACTOMEQ08999 [protein]
REACTOME PathwaysREACT_115566 Cell Cycle [pathway]
Protein Interaction DatabaseRBL2
Wikipedia pathwaysRBL2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RBL2
SNP (GeneSNP Utah)RBL2
SNP : HGBaseRBL2
Genetic variants : HAPMAPRBL2
1000_GenomesRBL2 
ICGC programENSG00000103479 
CONAN: Copy Number AnalysisRBL2 
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
DECIPHER (Syndromes)16:53468351-53525560
Mutations and Diseases : HGMDRBL2
OMIM180203   
MedgenRBL2
GENETestsRBL2
Disease Genetic AssociationRBL2
Huge Navigator RBL2 [HugePedia]  RBL2 [HugeCancerGEM]
Genomic VariantsRBL2  RBL2 [DGVbeta]
Exome VariantRBL2
dbVarRBL2
ClinVarRBL2
snp3D : Map Gene to Disease5934
General knowledge
Homologs : HomoloGeneRBL2
Homology/Alignments : Family Browser (UCSC)RBL2
Phylogenetic Trees/Animal Genes : TreeFamRBL2
Chemical/Protein Interactions : CTD5934
Chemical/Pharm GKB GenePA34258
Clinical trialRBL2
Cancer Resource (Charite)ENSG00000103479
Other databases
Other databaseASAP
Other databaseEASED
Other databaseCGED
Other databaseHGVD
Other databaseJSNP
Other databaseCleanEx
Probes
Litterature
PubMed141 Pubmed reference(s) in Entrez
CoreMineRBL2
GoPubMedRBL2
iHOPRBL2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written03-2004Giuseppe Russo, Antonio Giordano, Pier Paolo Claudio
Temple University, Center for Biotechnology, Department of Biology, 1900 N. 12th Street, Rm. 333, Philadelphia, PA 19122, USA

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/RBL2ID443.html

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indexed on : Sat Nov 8 16:44:36 CET 2014

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