Retinoblastoma-like protein 2

Retinoblastoma-like protein 2 is a protein that in humans is encoded by the RBL2 gene.^[5][6] RBL2 is one of three retinoblastoma proteins encoded in the human genome (along with Rb and RBL1).

RBL2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4XI9, 5C1D
Identifiers
Aliases	RBL2, P130, Rb2, retinoblastoma-like 2, RB transcriptional corepressor like 2, BRUWAG
External IDs	OMIM: 180203; MGI: 105085; HomoloGene: 4098; GeneCards: RBL2; OMA:RBL2 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.2 Start 53,433,977 bp[1] End 53,491,648 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 C4|8 44.25 cM Start 91,796,685 bp[2] End 91,850,472 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium superficial temporal artery epithelium of nasopharynx Achilles tendon lymph node cardia tonsil body of pancreas pylorus mucosa of paranasal sinus Top expressed in parotid gland muscle of thigh spermatid saccule medial head of gastrocnemius muscle submandibular gland stroma of bone marrow temporal muscle triceps brachii muscle thymus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein binding promoter-specific chromatin binding DNA-binding transcription repressor activity, RNA polymerase II-specific Cellular component nucleolus extracellular exosome nucleus transcription regulator complex nucleoplasm cytosol chromatin Biological process regulation of transcription by RNA polymerase II regulation of cell cycle cell cycle regulation of transcription, DNA-templated transcription, DNA-templated regulation of lipid kinase activity DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest negative regulation of gene expression negative regulation of transcription by RNA polymerase II chromatin organization regulation of mitotic cell cycle cell differentiation regulation of cell division negative regulation of G1/S transition of mitotic cell cycle Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5934 19651 Ensembl ENSG00000103479 ENSMUSG00000031666 UniProt Q08999 Q64700 RefSeq (mRNA) NM_005611 NM_001323608 NM_001323609 NM_001323610 NM_001323611 NM_001282000 NM_001282001 NM_011250 RefSeq (protein) NP_001310537 NP_001310538 NP_001310539 NP_001310540 NP_005602 NP_001268929 NP_001268930 NP_035380 Location (UCSC) Chr 16: 53.43 – 53.49 Mb Chr 8: 91.8 – 91.85 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Interactions

Retinoblastoma-like protein 2 has been shown to interact with:

• BRCA1,^[7]
• BRF1^[8]
• C-Raf,^[9]
• Cyclin E1,^[10][11]
• Cyclin-dependent kinase 2,^[10][12]
• HDAC1,^[13][14]
• Prohibitin,^[15] and
• RBBP8.^[16][17]

Human disease

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.^[18][19][20]

The genetic basis of RBL2-linked disease is caused by bi-allelic loss-of-function mutations (including nonsense mutations, frameshifts, splicing mutations, and deletions.^[18]

RBL2-linked disease is a rare genetic disorder with only 35 patients identified worldwide (2025).^[18]

See also

• Pocket protein family