RBL2 (retinoblastoma-like 2)

Identity

Other names	PRB2
	RBR-2
	130 kDa retinoblastoma-associated protein
	H. sapiens p130 mRNA for 130K protein
	P130
	Retinoblastoma-related gene RB2
	Rb2
	Retinoblastoma-like protein 2
Hugo	RBL2
Location	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

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
Hugo	RBL2
GDB	RBL2
Entrez_Gene	RBL2  5934  retinoblastoma-like 2 (p130)
	Cards
Atlas	RBL2ID443
GeneCards	RBL2
Ensembl	RBL2 [Search_View]   ENSG00000103479 [Gene_View]
Genatlas	RBL2
GeneLynx	RBL2
eGenome	RBL2
euGene	5934
	Genomic and cartography
GoldenPath	RBL2  -  16q12.2   chr16:52025901-52083060 +  16q12.2   [Description]    (hg18-Mar_2006)
Ensembl	RBL2 - 16q12.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	RBL2
	Gene and transcription
Genbank	AK129969 [ ENTREZ ]
Genbank	BC034490 [ ENTREZ ]
Genbank	BX537767 [ ENTREZ ]
Genbank	CR608692 [ ENTREZ ]
Genbank	S67171 [ ENTREZ ]
RefSeq	NM_005611 [ SRS ]    NM_005611 [ ENTREZ ]
RefSeq	AC_000059 [ SRS ]    AC_000059 [ ENTREZ ]
RefSeq	NC_000016 [ SRS ]    NC_000016 [ ENTREZ ]
RefSeq	NT_010498 [ SRS ]    NT_010498 [ ENTREZ ]
RefSeq	NW_926462 [ SRS ]    NW_926462 [ ENTREZ ]
AceView	RBL2 AceView - NCBI
Unigene	Hs.513609 [ SRS ]    Hs.513609 [ NCBI ]     HS513609 [ spliceNest ]
Fast-db	8729 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q08999 [ SRS]    Q08999 [ EXPASY ]     Q08999 [ INTERPRO ]
Interpro	IPR006670 Cyclin [ SRS ]    IPR006670 Cyclin [ EBI ]
Interpro	IPR013763 Cyclin_related [ SRS ]    IPR013763 Cyclin_related [ EBI ]
Interpro	IPR002720 RB_A [ SRS ]    IPR002720 RB_A [ EBI ]
Interpro	IPR002719 RB_B [ SRS ]    IPR002719 RB_B [ EBI ]
CluSTr	Q08999
Pfam	PF01858 RB_A [ SRS ]    PF01858 RB_A [ Sanger ]    pfam01858 [ NCBI-CDD ]
Pfam	PF01857 RB_B [ SRS ]    PF01857 RB_B [ Sanger ]    pfam01857 [ NCBI-CDD ]
Smart	SM00385 CYCLIN [EMBL]
Blocks	Q08999
HPRD	01576
	Protein Interaction databases
DIP	Q08999
IntAct	Q08999
	Polymorphism : SNP, mutations, diseases
OMIM	180203    [ map ]
GENECLINICS	180203
SNP	RBL2 [dbSNP-NCBI]
SNP	NM_005611 [SNP-NCI]
SNP	RBL2 [GeneSNPs - Utah]  RBL2] [HGBASE - SRS]
HAPMAP	RBL2 [HAPMAP]
COSMIC	RBL2 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	RBL2
	General knowledge
Family Browser	RBL2 [UCSC Family Browser]
SOURCE	NM_005611
SMD	Hs.513609
SAGE	Hs.513609
GO	DNA binding [Amigo]  DNA binding
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	cell cycle [Amigo]  cell cycle
GO	chromatin modification [Amigo]  chromatin modification
GO	regulation of lipid kinase activity [Amigo]  regulation of lipid kinase activity
GO	negative regulation of cell cycle [Amigo]  negative regulation of cell cycle
BIOCARTA	METS affect on Macrophage Differentiation    [Genes]
KEGG	Cell cycle
KEGG	TGF-beta signaling pathway
PubGene	RBL2
TreeFam	RBL2
CTD	5934 [Comparative ToxicoGenomics Database]
	Other databases
Other database	ASAP
Other database	EASED
Other database	CGED
Other database	HGVD
Other database	JSNP
Other database	CleanEx
	Probes
Probe	RBL2 Related clones (RZPD - Berlin)
	PubMed
PubMed	80 Pubmed reference(s) in LocusLink

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	03-2004	Giuseppe 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. March 2004 . URL : http://AtlasGeneticsOncology.org/Genes/RBL2ID443.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:26:38 2008