Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Protein Name: | RBL2 |
Gene Name: | RBL2 |
Protein Full Name: | Retinoblastoma-like protein 2 |
Alias: | 130 kDa retinoblastoma-associated protein; P130; PRB2; RB2; RBL2; RBR-2; Retinoblastoma-like 2 |
Mass (Da): | 128367 |
Number AA: | 1139 |
UniProt ID: | Q08999 |
Locus ID: | 5934 |
COSMIC ID: | RBL2 |
Gene location on chromosome: | 16q12.2 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 19908 |
Percent of cancer specimens with mutations: | 0.84 |
Normal role description: | RBL2, like the RB protein, is a key regulator of the cell cycle. It acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Also, like the RB protein, it binds to and inhibits E2F-mediated trans-activation, with RBL2 preferentailly associating with E2F5. RBL2 will also binds to cyclins A and E, thereby inhibiting there bindind to cyclin-dependant kinases (CDKs). Missense mutations in RBL2 have been found in mouth and ovarian tumors. |