RCBTB1 Chromosome 13
RCC1 and BTB domain containing protein 1
Upload your DNA to see your personal genotypes for variants in RCBTB1.
What This Gene Does
This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
BTB domain containing
Locus Type
gene with protein product
Location
13q14.2
Ensembl
ENSG00000136144
Associated Conditions (7)
Retinitis pigmentosa
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
RCBTB1-related disorder
RCBTB1-related retinopathy
Coats disease
Familial exudative vitreoretinopathy
Familial cancer of breast
Key Variants
RS146165279
Conflicting classifications of pathogenicity
Health Risk
RS772592456
Conflicting classifications of pathogenicity
Retinitis pigmentosa, RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES, Retinitis pigmentosa
Health Risk
RS1960316472
Likely pathogenic
Health Risk
RS1962294376
Likely pathogenic
Health Risk
RS200826424
Likely pathogenic
Retinitis pigmentosa, RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES, RCBTB1-related disorder
Health Risk
RS2139180203
Likely pathogenic
Health Risk
RS2139180575
Likely pathogenic
Health Risk
RS2139231251
Likely pathogenic
Health Risk
RS774015502
Likely pathogenic
Health Risk
RS869312819
Likely pathogenic
Coats disease, Familial exudative vitreoretinopathy, Coats disease
Health Risk
RS1346037124
Pathogenic
Health Risk
RS1437353033
Pathogenic
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146165279 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772592456 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES, Retinitis pigmentosa |
| RS1960316472 | Health Risk | Likely pathogenic | — |
| RS1962294376 | Health Risk | Likely pathogenic | — |
| RS200826424 | Health Risk | Likely pathogenic | Retinitis pigmentosa, RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES, RCBTB1-related disorder |
| RS2139180203 | Health Risk | Likely pathogenic | — |
| RS2139180575 | Health Risk | Likely pathogenic | — |
| RS2139231251 | Health Risk | Likely pathogenic | — |
| RS774015502 | Health Risk | Likely pathogenic | — |
| RS869312819 | Health Risk | Likely pathogenic | Coats disease, Familial exudative vitreoretinopathy, Coats disease |
| RS1346037124 | Health Risk | Pathogenic | — |
| RS1437353033 | Health Risk | Pathogenic | — |
| RS1566215888 | Health Risk | Pathogenic | — |
| RS1961131363 | Health Risk | Pathogenic | — |
| RS1961431442 | Health Risk | Pathogenic | — |
| RS1962302858 | Health Risk | Pathogenic | — |
| RS2139148499 | Health Risk | Pathogenic | — |
| RS2139148607 | Health Risk | Pathogenic | — |
| RS2139180733 | Health Risk | Pathogenic | — |
| RS2139231902 | Health Risk | Pathogenic | — |
| RS372094611 | Health Risk | Pathogenic | — |
| RS747803510 | Health Risk | Pathogenic | — |
| RS749704655 | Health Risk | Pathogenic | — |
| RS754407540 | Health Risk | Pathogenic | — |
| RS765367820 | Health Risk | Pathogenic | RCBTB1-related retinopathy, RCBTB1-related retinopathy |
| RS768475581 | Health Risk | Pathogenic | — |
| RS368217569 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, RCBTB1-related retinopathy, Familial cancer of breast |
| RS767690421 | Health Risk | Pathogenic/Likely pathogenic | RCBTB1-related retinopathy, RCBTB1-related retinopathy |
| RS777630688 | Health Risk | Pathogenic/Likely pathogenic | Coats disease, RCBTB1-related retinopathy, Coats disease |
| RS879255547 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, RCBTB1-related retinopathy, Retinitis pigmentosa |