Atlas of Genetics and Cytogenetics in Oncology and Haematology
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 | |
| 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. |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| 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 |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/38065/1/03-2004-RBL2ID443.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed May 1 13:02:24 CEST 2013 |
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