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RB1 RB transcriptional corepressor 1

Gene ID: 5925, updated on 29-Mar-2023
Gene type: protein coding
Also known as: RB; pRb; OSRC; pp110; p105-Rb; PPP1R130; p110-RB1


The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Bone osteosarcoma
MedGen: C0585442OMIM: 259500GeneReviews: Not available
See labs
Malignant tumor of urinary bladder
MedGen: C0005684OMIM: 109800GeneReviews: Not available
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MedGen: C0035335OMIM: 180200GeneReviews: Retinoblastoma
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Small cell lung carcinoma
MedGen: C0149925OMIM: 182280GeneReviews: Not available
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Copy number response

Copy number response

No evidence available (Last evaluated 2021-03-09)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-09)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 13; NC_000013.11 (48303751..48481890)
Total number of exons:


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