TRIP11 Chromosome 14
Thyroid hormone receptor interactor 11
Upload your DNA to see your personal genotypes for variants in TRIP11.
What This Gene Does
This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Golgins
Locus Type
gene with protein product
Location
14q32.12
Ensembl
ENSG00000100815
Associated Conditions (9)
Achondrogenesis
type IA
Colon adenocarcinoma
Connective tissue disorder
Inborn genetic diseases
TRIP11-related disorder
Odontochondrodysplasia 1
Ovarian serous cystadenocarcinoma
See cases
Key Variants
RS1278413331
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, Colon adenocarcinoma
Health Risk
RS137974620
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, Connective tissue disorder
Health Risk
RS138304419
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, TRIP11-related disorder
Health Risk
RS138379032
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, Achondrogenesis
Health Risk
RS138661581
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, Inborn genetic diseases
Health Risk
RS138904373
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, Achondrogenesis
Health Risk
RS139539448
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, Connective tissue disorder
Health Risk
RS140070005
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, Achondrogenesis
Health Risk
RS140106241
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, Achondrogenesis
Health Risk
RS140780067
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, Inborn genetic diseases
Health Risk
RS141259390
Conflicting classifications of pathogenicity
Connective tissue disorder, Achondrogenesis, type IA
Health Risk
RS141553918
Conflicting classifications of pathogenicity
Achondrogenesis, type IA, Connective tissue disorder
Health Risk
All Variants (125)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2140131376 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS2542959912 | Health Risk | Pathogenic | See cases, See cases |
| RS2543027578 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS2543028196 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS2543029378 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS2543029888 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS2543030185 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS2543031034 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS2543059288 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS2543078313 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS267607138 | Health Risk | Pathogenic | Achondrogenesis, type IA, Odontochondrodysplasia 1 |
| RS34761938 | Health Risk | Pathogenic | Achondrogenesis, type IA, Connective tissue disorder |
| RS747106242 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS750602133 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS758589172 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS760028443 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS764561670 | Health Risk | Pathogenic | Achondrogenesis, type IA, Odontochondrodysplasia 1 |
| RS768748981 | Health Risk | Pathogenic | — |
| RS773312108 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS776935608 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS779038293 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS780178406 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS981921410 | Health Risk | Pathogenic | TRIP11-related disorder, Achondrogenesis, type IA |
| RS999557873 | Health Risk | Pathogenic | Achondrogenesis, type IA, Achondrogenesis |
| RS149562813 | Health Risk | Pathogenic/Likely pathogenic | Achondrogenesis, type IA, Achondrogenesis |