RBBP8 Chromosome 18
RB binding protein 8, endonuclease
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What This Gene Does
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]
Gene Info
Gene Group
"BRCA1 C complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
18q11.2
Ensembl
ENSG00000101773
Associated Conditions (4)
RBBP8-related disorder
Jawad syndrome
Seckel syndrome 2
Inborn genetic diseases
Key Variants
RS1064796899
Conflicting classifications of pathogenicity
Health Risk
RS139743319
Conflicting classifications of pathogenicity
RBBP8-related disorder, RBBP8-related disorder
Health Risk
RS186820592
Conflicting classifications of pathogenicity
Jawad syndrome, Seckel syndrome 2, Jawad syndrome
Health Risk
RS1915827870
Conflicting classifications of pathogenicity
Jawad syndrome, Jawad syndrome
Health Risk
RS368252010
Conflicting classifications of pathogenicity
Health Risk
RS369315269
Conflicting classifications of pathogenicity
RBBP8-related disorder, RBBP8-related disorder
Health Risk
RS372640326
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373804633
Conflicting classifications of pathogenicity
Seckel syndrome 2, Jawad syndrome, Seckel syndrome 2
Health Risk
RS540122133
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS587780432
Conflicting classifications of pathogenicity
Seckel syndrome 2, Seckel syndrome 2
Health Risk
RS751482231
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS757282598
Conflicting classifications of pathogenicity
Jawad syndrome, Seckel syndrome 2, Jawad syndrome
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064796899 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139743319 | Health Risk | Conflicting classifications of pathogenicity | RBBP8-related disorder, RBBP8-related disorder |
| RS186820592 | Health Risk | Conflicting classifications of pathogenicity | Jawad syndrome, Seckel syndrome 2, Jawad syndrome |
| RS1915827870 | Health Risk | Conflicting classifications of pathogenicity | Jawad syndrome, Jawad syndrome |
| RS368252010 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369315269 | Health Risk | Conflicting classifications of pathogenicity | RBBP8-related disorder, RBBP8-related disorder |
| RS372640326 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373804633 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 2, Jawad syndrome, Seckel syndrome 2 |
| RS540122133 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS587780432 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 2, Seckel syndrome 2 |
| RS751482231 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757282598 | Health Risk | Conflicting classifications of pathogenicity | Jawad syndrome, Seckel syndrome 2, Jawad syndrome |
| RS757747543 | Health Risk | Conflicting classifications of pathogenicity | Jawad syndrome, Seckel syndrome 2, Jawad syndrome |
| RS764998953 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2045882525 | Health Risk | Likely pathogenic | Jawad syndrome, Seckel syndrome 2, Jawad syndrome |
| RS2045952037 | Health Risk | Likely pathogenic | Jawad syndrome, Jawad syndrome |
| RS370650618 | Health Risk | Likely pathogenic | — |
| RS749174131 | Health Risk | Likely pathogenic | RBBP8-related disorder, RBBP8-related disorder |
| RS762396810 | Health Risk | Likely pathogenic | Seckel syndrome 2, Seckel syndrome 2 |
| RS1913849770 | Health Risk | Pathogenic | Jawad syndrome, Jawad syndrome |
| RS587776883 | Health Risk | Pathogenic | Seckel syndrome 2, Seckel syndrome 2 |
| RS587776884 | Health Risk | Pathogenic | Jawad syndrome, Jawad syndrome |
| RS773963644 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS754390284 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |