RBL2

Chr 16q12.2

RB transcriptional corepressor like 2

Aliases:: Rb2, p130
MANE:: ENST00000262133.11

OMIM: 180203 ↗NCBI: 5934 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RBL2 · Q08999

v62025-08-01

Predicted Aligned Error matrix for RBL2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.6/ 100

Low

1,139 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)26%
Low(50–70)13%
Very low(< 50)32%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Brunet-Wagner neurodevelopmental syndrome
0.67
neurodegenerative disease
0.44
intelligence
0.42
diabetes mellitus
0.35
Abnormality of the skeletal system
0.31
cervical carcinoma
0.28
ocular hypotension
0.27
type 2 diabetes mellitus
0.26
health study participation
0.25
nephritis
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Retinoblastoma-like protein 2

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