TRIP4 Chromosome 15
Thyroid hormone receptor interactor 4
Upload your DNA to see your personal genotypes for variants in TRIP4.
What This Gene Does
This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
"Zinc fingers|Activating signal cointegrator 1 complex"
Locus Type
gene with protein product
Location
15q22.31
Ensembl
ENSG00000103671
Associated Conditions (7)
Inborn genetic diseases
Spinal muscular atrophy with congenital bone fractures 1
TRIP4-related disorder
Gastric cancer
Cervical cancer
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Centronuclear myopathy
Key Variants
RS1040878226
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS113596176
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144077712
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS375004645
Conflicting classifications of pathogenicity
Health Risk
RS2140297426
Likely pathogenic
Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1
Health Risk
RS2140301381
Likely pathogenic
Health Risk
RS2505427987
Likely pathogenic
Health Risk
RS374032892
Likely pathogenic
TRIP4-related disorder, Gastric cancer, Cervical cancer
Health Risk
RS760447338
Likely pathogenic
Health Risk
RS1566972371
Pathogenic
Health Risk
RS1596341256
Pathogenic
Health Risk
RS1891715888
Pathogenic
Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1040878226 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS113596176 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144077712 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375004645 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2140297426 | Health Risk | Likely pathogenic | Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1 |
| RS2140301381 | Health Risk | Likely pathogenic | — |
| RS2505427987 | Health Risk | Likely pathogenic | — |
| RS374032892 | Health Risk | Likely pathogenic | TRIP4-related disorder, Gastric cancer, Cervical cancer |
| RS760447338 | Health Risk | Likely pathogenic | — |
| RS1566972371 | Health Risk | Pathogenic | — |
| RS1596341256 | Health Risk | Pathogenic | — |
| RS1891715888 | Health Risk | Pathogenic | Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1 |
| RS200549601 | Health Risk | Pathogenic | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome |
| RS2505390122 | Health Risk | Pathogenic | Centronuclear myopathy, Centronuclear myopathy |
| RS2505403157 | Health Risk | Pathogenic | — |
| RS2505403454 | Health Risk | Pathogenic | Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1 |
| RS2505410422 | Health Risk | Pathogenic | — |
| RS2505410580 | Health Risk | Pathogenic | — |
| RS2505434082 | Health Risk | Pathogenic | — |
| RS2505448975 | Health Risk | Pathogenic | Centronuclear myopathy, Centronuclear myopathy |
| RS2505460057 | Health Risk | Pathogenic | — |
| RS553667435 | Health Risk | Pathogenic | — |
| RS748828135 | Health Risk | Pathogenic | Spinal muscular atrophy with congenital bone fractures 1, Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, Spinal muscular atrophy with congenital bone fractures 1 |
| RS761865592 | Health Risk | Pathogenic | Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1 |
| RS768797866 | Health Risk | Pathogenic | — |
| RS769545692 | Health Risk | Pathogenic | — |
| RS1446427502 | Health Risk | Pathogenic/Likely pathogenic | TRIP4-related disorder, TRIP4-related disorder |
| RS147303485 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1 |
| RS1900263561 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1 |
| RS745835965 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS869312827 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1 |