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Gene : RBBP8 Homo sapiens

Name  ? RB binding protein 8, endonuclease Cytological Location  18q11.2
Brief Description  RB binding protein 8, endonuclease
description  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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • Seckel syndrome 2,
  • SAE2,
  • SCKL2,
  • JWDS,
  • COM1,
  • AF043431,
  • CTBP-interacting protein,
  • NM_203291,
  • OTTHUMG00000131769,
  • COM1,
  • RIM,
  • retinoblastoma binding protein 8,
  • RIM,
  • CTIP,
  • uc002ktw.4,
  • CtIP,
  • RBBP8,
  • HGNC:9891,
  • retinoblastoma-binding protein 8,
  • SCKL2
  • identifiers:
  • 5932,
  • ENSG00000101773,
  • RBBP8

Genome feature

Region: gene ? Length: 112366  
Location: 18:22914121-23026486 Cyto location: 18q11.2

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2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

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416 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results