Gene: RBBP8

Alternate names for this Gene: COM1|CTIP|JWDS|RIM|SAE2|SCKL2

Gene Summary: The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined.

Gene is located in Chromosome: 18

Location in Chromosome : 18q11.2

Description of this Gene: RB binding protein 8, endonuclease

Type of Gene: protein-coding

rs12962334 in RBBP8 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs9963862 in RBBP8 gene and Myasthenia Gravis PMID 26562150 2016 Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations.

rs373804633 in RBBP8 gene and SECKEL SYNDROME 2 PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

PMID 21998596 2011 CtIP Mutations Cause Seckel and Jawad Syndromes.

rs8085287 in RBBP8 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.