GENE NAME | RBBP8 |
CHROMOSOME | 18 |
ENSEMBL ID | ENSG00000101773 |
ENTREZ ID | 5932 |
UNIPROT ACCESSION NUMBER | Q99708 |
GO MOLECULAR FUNCTION | flap-structured DNA binding; single-stranded DNA binding; damaged DNA binding; protein binding; double-stranded DNA binding; Y-form DNA binding; identical protein binding; transcription corepressor activity; single-stranded DNA endodeoxyribonuclease activity; double-strand/single-strand DNA junction binding; RNA polymerase II-specific DNA-binding transcription factor binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-6804756; R-HSA-5693579; R-HSA-69473; R-HSA-73894; hsa03440; R-HSA-1474165; R-HSA-5693568; R-HSA-5685939; R-HSA-69620; R-HSA-5693537; R-HSA-5693567; R-HSA-5693538; R-HSA-5693607; R-HSA-73857; R-HSA-5633007; R-HSA-5693554; R-HSA-5693616; R-HSA-1500620; R-HSA-5685938; R-HSA-5693532; R-HSA-74160; R-HSA-912446; R-HSA-212436; R-HSA-3700989; R-HSA-5685942; hsa03440; R-HSA-1640170; R-HSA-69481; R-HSA-8953750 |
2 combinations linked to RBBP8 | OLI1049; OLI1056 |
1 variant linked to RBBP8 | RBBP8:c.2516G>A, p.Arg839Gln |
1 disease linked to RBBP8 | Primary ovarian failure |