RHOBTB2 Chromosome 8
Rho related BTB domain containing 2
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What This Gene Does
The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"Rho family GTPases|BTB domain containing"
Locus Type
gene with protein product
Location
8p21.3
Ensembl
ENSG00000008853
Associated Conditions (9)
Inborn genetic diseases
Developmental and epileptic encephalopathy
64
Seizure
RHOBTB2-related disorder
See cases
Chorea
Dystonic disorder
Rett syndrome
Key Variants
RS1005521110
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1211242747
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1273344545
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1280583223
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1357068280
Conflicting classifications of pathogenicity
Health Risk
RS141989309
Conflicting classifications of pathogenicity
Health Risk
RS142645813
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1426962641
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143278893
Conflicting classifications of pathogenicity
Health Risk
RS149170321
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150618811
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554504663
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 64, Inborn genetic diseases
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781175694 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 64, Developmental and epileptic encephalopathy |
| RS909105303 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS943893227 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1342073189 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 64, Developmental and epileptic encephalopathy |
| RS1554504656 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 64, Developmental and epileptic encephalopathy |
| RS1585190351 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 64, Developmental and epileptic encephalopathy |
| RS2486998975 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2486999040 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 64, Developmental and epileptic encephalopathy |
| RS1554504684 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 64, Chorea |
| RS2128805025 | Health Risk | Pathogenic | — |
| RS2486999107 | Health Risk | Pathogenic | RHOBTB2-related disorder, RHOBTB2-related disorder |
| RS1554504678 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 64 |
| RS1554504681 | Health Risk | Pathogenic/Likely pathogenic | Rett syndrome, Developmental and epileptic encephalopathy, 64 |
| RS1563292586 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 64, Developmental and epileptic encephalopathy |