RBL2 phospho T986
Developmental stage
G0-restricted expression.
Function
Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation, associates preferentially with E2F5. Binds to cyclins A and E. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. May act as a tumor suppressor.
Involvement in disease
Brunet-Wagner neurodevelopmental syndrome
BRUWAG
An autosomal recessive disorder characterized by severe developmental delay, intellectual disability, poor or absent speech, infantile hypotonia, inability to walk, behavioral abnormalities, and dysmorphic features.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
During G0 and early G1 phase of the cell cycle, phosphorylated on Ser-639 and on 5 sites within the domain B. Phosphorylation on Ser-672 in G1 leads to its ubiquitin-dependent proteolysis.
Sequence Similarities
Belongs to the retinoblastoma protein (RB) family.
Cellular localization
- Nucleus
Alternative names
RB2, RBL2, Retinoblastoma-like protein 2, 130 kDa retinoblastoma-associated protein, Retinoblastoma-related protein 2, pRb2, p130, RBR-2