Retinoblastoma-like protein 2 is a protein that in humans is encoded by the RBL2 gene. RBL2 is one of three retinoblastoma proteins encoded in the human genome (along with Rb and RBL1).
Retinoblastoma-like protein 2 has been shown to interact with:
Mutations in RBL2 have been linked to a severe neurodevelopmental disorder characterised by morphological and behavioural abnormalities. Symptoms include intellectual disability, developmental delay, microcephaly, dysmorphic features, gait abnormalities, and seizures.
The genetic basis of RBL2-linked disease is caused by bi-allelic loss-of-function mutations (including nonsense mutations, frameshifts, splicing mutations, and deletions.
RBL2-linked disease is a rare genetic disorder with only 35 patients identified worldwide (2025).