RBL2 (retinoblastoma-like 2)

2004-03-01   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

Identity

HGNC
LOCATION
16q12.2
LOCUSID
ALIAS
P130,Rb2
FUSION GENES

DNA/RNA

Atlas Image
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
Atlas Image

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 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 IDTranscript IDUniprot
ENSG00000103479ENST00000262133Q08999
ENSG00000103479ENST00000544405F5H837
ENSG00000103479ENST00000567964J3KSF7

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Cell cycleKEGGko04110
Cell cycleKEGGhsa04110
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
FoxO signaling pathwayKEGGhsa04068
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G1-G1/S phasesREACTOMER-HSA-453279
G0 and Early G1REACTOMER-HSA-1538133
G1 PhaseREACTOMER-HSA-69236
Cyclin D associated events in G1REACTOMER-HSA-69231
TP53 Regulates Transcription of Cell Cycle GenesREACTOMER-HSA-6791312
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle ArrestREACTOMER-HSA-6804114

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
175318122007Evolutionarily conserved multisubunit RBL2/p130 and E2F4 protein complex represses human cell cycle-dependent genes in quiescence.171
200715802010Epigenetic regulation of Kaposi's sarcoma-associated herpesvirus latency by virus-encoded microRNAs that target Rta and the cellular Rbl2-DNMT pathway.114
159494382005Binding of pRB to the PHD protein RBP2 promotes cellular differentiation.102
124356352002The pRb-related protein p130 is regulated by phosphorylation-dependent proteolysis via the protein-ubiquitin ligase SCF(Skp2).101
204069862010Loss of p130 accelerates tumor development in a mouse model for human small-cell lung carcinoma.86
161358062005Pocket protein complexes are recruited to distinct targets in quiescent and proliferating cells.59
158270882005p130/p107/p105Rb-dependent transcriptional repression during DNA-damage-induced cell-cycle exit at G2.45
127892592003pRb2/p130-E2F4/5-HDAC1-SUV39H1-p300 and pRb2/p130-E2F4/5-HDAC1-SUV39H1-DNMT1 multimolecular complexes mediate the transcription of estrogen receptor-alpha in breast cancer.41
165378962006Primary and compensatory roles for RB family members at cell cycle gene promoters that are deacetylated and downregulated in doxorubicin-induced senescence of breast cancer cells.37
126210622003Oxidative stress induces protein phosphatase 2A-dependent dephosphorylation of the pocket proteins pRb, p107, and p130.28

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/rbl2id443