TRIP12 Chromosome 2
Thyroid hormone receptor interactor 12
Upload your DNA to see your personal genotypes for variants in TRIP12.
What This Gene Does
The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
"Armadillo like helical domain containing|HECT domain containing"
Locus Type
gene with protein product
Location
2q36.3
Ensembl
ENSG00000153827
Associated Conditions (9)
Intellectual disability
Clark-Baraitser syndrome
Gastric cancer
Inborn genetic diseases
TRIP12-related disorder
Neurodevelopmental disorder
TRIP12 associated autism with facial dysmorphology
See cases
Neurodevelopmental delay
Key Variants
RS1195592039
Conflicting classifications of pathogenicity
Intellectual disability, Clark-Baraitser syndrome, Intellectual disability
Health Risk
RS1320218400
Conflicting classifications of pathogenicity
Clark-Baraitser syndrome, Gastric cancer, Clark-Baraitser syndrome
Health Risk
RS139703319
Conflicting classifications of pathogenicity
Inborn genetic diseases, Clark-Baraitser syndrome, TRIP12-related disorder
Health Risk
RS141163529
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142882915
Conflicting classifications of pathogenicity
Clark-Baraitser syndrome, TRIP12-related disorder, Clark-Baraitser syndrome
Health Risk
RS201067731
Conflicting classifications of pathogenicity
Clark-Baraitser syndrome, Inborn genetic diseases, Clark-Baraitser syndrome
Health Risk
RS2032214426
Conflicting classifications of pathogenicity
Clark-Baraitser syndrome, Clark-Baraitser syndrome
Health Risk
RS539119124
Conflicting classifications of pathogenicity
Clark-Baraitser syndrome, Inborn genetic diseases, Clark-Baraitser syndrome
Health Risk
RS747501109
Conflicting classifications of pathogenicity
Clark-Baraitser syndrome, Clark-Baraitser syndrome
Health Risk
RS764732335
Conflicting classifications of pathogenicity
Clark-Baraitser syndrome, Clark-Baraitser syndrome
Health Risk
RS772399122
Conflicting classifications of pathogenicity
Clark-Baraitser syndrome, Inborn genetic diseases, Clark-Baraitser syndrome
Health Risk
RS1468657712
Likely pathogenic
Clark-Baraitser syndrome, Clark-Baraitser syndrome
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553704327 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS1553704696 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1559428905 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS1575073974 | Health Risk | Pathogenic | — |
| RS1575105918 | Health Risk | Pathogenic | — |
| RS1575124128 | Health Risk | Pathogenic | — |
| RS1575203936 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS1575409311 | Health Risk | Pathogenic | — |
| RS1575419803 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2036605188 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2041634150 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2041642562 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2043183193 | Health Risk | Pathogenic | — |
| RS2043184881 | Health Risk | Pathogenic | Inborn genetic diseases, Clark-Baraitser syndrome, See cases |
| RS2053141794 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2154245555 | Health Risk | Pathogenic | See cases, See cases |
| RS2154255332 | Health Risk | Pathogenic | — |
| RS2154256586 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2154257791 | Health Risk | Pathogenic | — |
| RS2154257804 | Health Risk | Pathogenic | See cases, See cases |
| RS2154259932 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2154264214 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2154264222 | Health Risk | Pathogenic | — |
| RS2154270715 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2154275777 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2154278573 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2154281369 | Health Risk | Pathogenic | — |
| RS2469759620 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2470100391 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2470271582 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2471174164 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2471181256 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2471401877 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2471479385 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2472099492 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2472430261 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2472696414 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2475891095 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2475946632 | Health Risk | Pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS1574994308 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Clark-Baraitser syndrome, Intellectual disability |
| RS2042881907 | Health Risk | Pathogenic/Likely pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2060119917 | Health Risk | Pathogenic/Likely pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2154255374 | Health Risk | Pathogenic/Likely pathogenic | Clark-Baraitser syndrome, Clark-Baraitser syndrome |