RBL2

Chr 16

RB transcriptional corepressor like 2

Also known as: BRUWAG, P130, Rb2

NCBI Gene: 5934 ENSG00000103479 UniProt: Q08999

The protein encoded by this gene regulates cell cycle entry and acts as a transcriptional repressor by recruiting chromatin-modifying enzymes and controlling histone methylation, particularly maintaining heterochromatin structure. Mutations cause developmental and epileptic encephalopathy with microcephaly and growth retardation, typically presenting in early infancy with seizures, developmental delays, and failure to thrive. This gene follows autosomal recessive inheritance and is highly constrained against loss-of-function variants in the population.

ResearchSummary from RefSeq, UniProt

Enables promoter-specific chromatin binding activity. Involved in regulation of lipid kinase activity. Acts upstream of or within negative regulation of gene expression. Located in chromosome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBrunet-Wagner neurodevelopmental syndrome

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

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