RBL2 (retinoblastoma-like 2)
2004-03-01 Giuseppe Russo , Antonio Giordano , Pier Paolo Claudio AffiliationTemple University, Center for Biotechnology, Department of Biology, 1900 N. 12th Street, Rm. 333, Philadelphia, PA 19122, USA
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
Proteins
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
M. musculus : 92 (Percentage Identity)
R. norvegicus : 91
D. melanogaster : 27
A. thaliana : 23
C. elegans : 22
Implicated in
Entity name
This oncosuppressor gene is involved in Breast Cancer, Burkitts 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.
Other Information
Locus ID:
NCBI: 5934
MIM: 180203
HGNC: 9894
Ensembl: ENSG00000103479
Variants:
dbSNP: 5934
ClinVar: 5934
TCGA: ENSG00000103479
COSMIC: RBL2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000103479 | ENST00000262133 | Q08999 |
| ENSG00000103479 | ENST00000544405 | F5H837 |
| ENSG00000103479 | ENST00000567964 | J3KSF7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37725511 | 2023 | RBL2-E2F-GCN5 guide cell fate decisions during tissue specification by regulating cell-cycle-dependent fluctuations of non-cell-autonomous signaling. | 1 |
| 37725511 | 2023 | RBL2-E2F-GCN5 guide cell fate decisions during tissue specification by regulating cell-cycle-dependent fluctuations of non-cell-autonomous signaling. | 1 |
| 35385527 | 2022 | Mutations in the acetylation hotspots of Rbl2 are associated with increased risk of breast cancer. | 1 |
| 36413521 | 2022 | Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells. | 0 |
| 35385527 | 2022 | Mutations in the acetylation hotspots of Rbl2 are associated with increased risk of breast cancer. | 1 |
| 36413521 | 2022 | Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells. | 0 |
| 33980986 | 2021 | RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function. | 0 |
| 33980986 | 2021 | RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function. | 0 |
| 32105419 | 2020 | Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder. | 5 |
| 32105419 | 2020 | Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder. | 5 |
| 29059406 | 2018 | Dynamic site-specific recruitment of RBP2 by pocket protein p130 modulates H3K4 methylation on E2F-responsive promoters. | 5 |
| 29417345 | 2018 | Nucleosomes positioning around transcriptional start site of tumor suppressor (Rbl2/p130) gene in breast cancer. | 5 |
| 29606701 | 2018 | RBL2/p130 is a direct AKT target and is required to induce apoptosis upon AKT inhibition in lung cancer and mesothelioma cell lines. | 18 |
| 30166342 | 2018 | Heat shock protein 27 promotes cell cycle progression by down-regulating E2F transcription factor 4 and retinoblastoma family protein p130. | 10 |
| 29059406 | 2018 | Dynamic site-specific recruitment of RBP2 by pocket protein p130 modulates H3K4 methylation on E2F-responsive promoters. | 5 |
Citation
Giuseppe Russo ; Antonio Giordano ; Pier Paolo Claudio
RBL2 (retinoblastoma-like 2)
Atlas Genet Cytogenet Oncol Haematol. 2004-03-01
Online version: http://atlasgeneticsoncology.org/gene/443/rbl2-(retinoblastoma-like-2)
