RBL2 (retinoblastoma-like 2)

2004-03-01 Giuseppe Russo , Antonio Giordano , Pier Paolo Claudio Affiliation

Temple University, Center for Biotechnology, Department of Biology, 1900 N. 12th Street, Rm. 333, Philadelphia, PA 19122, USA

Identity

HGNC

RBL2

LOCATION

16q12.2

LOCUSID

5934

ALIAS

P130,Rb2

FUSION GENES

Show Gene Fusions

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

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Cell cycle	KEGG	ko04110
Cell cycle	KEGG	hsa04110
Viral carcinogenesis	KEGG	hsa05203
Viral carcinogenesis	KEGG	ko05203
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
FoxO signaling pathway	KEGG	hsa04068
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
Mitotic G1-G1/S phases	REACTOME	R-HSA-453279
G0 and Early G1	REACTOME	R-HSA-1538133
G1 Phase	REACTOME	R-HSA-69236
Cyclin D associated events in G1	REACTOME	R-HSA-69231
TP53 Regulates Transcription of Cell Cycle Genes	REACTOME	R-HSA-6791312
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest	REACTOME	R-HSA-6804114

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/deep-insight-explorer/gene-fusions/favicon/favicon-16x16.png