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
RBL2
LOCATION
16q12.2
LOCUSID
5934
ALIAS
P130,Rb2
FUSION GENES
Show Gene Fusions

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
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
377255112023RBL2-E2F-GCN5 guide cell fate decisions during tissue specification by regulating cell-cycle-dependent fluctuations of non-cell-autonomous signaling.1
377255112023RBL2-E2F-GCN5 guide cell fate decisions during tissue specification by regulating cell-cycle-dependent fluctuations of non-cell-autonomous signaling.1
353855272022Mutations in the acetylation hotspots of Rbl2 are associated with increased risk of breast cancer.1
364135212022Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells.0
353855272022Mutations in the acetylation hotspots of Rbl2 are associated with increased risk of breast cancer.1
364135212022Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells.0
339809862021RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.0
339809862021RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.0
321054192020Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.5
321054192020Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.5
290594062018Dynamic site-specific recruitment of RBP2 by pocket protein p130 modulates H3K4 methylation on E2F-responsive promoters.5
294173452018Nucleosomes positioning around transcriptional start site of tumor suppressor (Rbl2/p130) gene in breast cancer.5
296067012018RBL2/p130 is a direct AKT target and is required to induce apoptosis upon AKT inhibition in lung cancer and mesothelioma cell lines.18
301663422018Heat shock protein 27 promotes cell cycle progression by down-regulating E2F transcription factor 4 and retinoblastoma family protein p130.10
290594062018Dynamic 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/img/tumors-explorer/js/template.js