TRIM32 Chromosome 9
Tripartite motif containing 32
Upload your DNA to see your personal genotypes for variants in TRIM32.
What This Gene Does
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|Tripartite motif family"
Locus Type
gene with protein product
Location
9q33.1
Ensembl
ENSG00000119401
Associated Conditions (9)
Sarcotubular myopathy
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome
TRIM32-related disorder
Inborn genetic diseases
Autosomal recessive limb-girdle muscular dystrophy
Myopathy
Retinal dystrophy
Limb-girdle muscular dystrophy
Key Variants
RS116058338
Conflicting classifications of pathogenicity
Sarcotubular myopathy, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Health Risk
RS1184553729
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, TRIM32-related disorder, Bardet-Biedl syndrome
Health Risk
RS121434447
Conflicting classifications of pathogenicity
Sarcotubular myopathy, Bardet-Biedl syndrome, Bardet-Biedl syndrome 11
Health Risk
RS1372713940
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, TRIM32-related disorder, Bardet-Biedl syndrome
Health Risk
RS138699534
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, TRIM32-related disorder, Inborn genetic diseases
Health Risk
RS140589523
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 11, Sarcotubular myopathy
Health Risk
RS141352486
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome
Health Risk
RS141953092
Conflicting classifications of pathogenicity
Sarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Health Risk
RS141965401
Conflicting classifications of pathogenicity
Sarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
Health Risk
RS142715198
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, TRIM32-related disorder, Bardet-Biedl syndrome
Health Risk
RS142781513
Conflicting classifications of pathogenicity
Health Risk
RS145728860
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, TRIM32-related disorder, Bardet-Biedl syndrome
Health Risk
All Variants (94)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2491068460 | Health Risk | Likely pathogenic | Sarcotubular myopathy, Bardet-Biedl syndrome 11, Sarcotubular myopathy |
| RS2491068644 | Health Risk | Likely pathogenic | — |
| RS886043553 | Health Risk | Likely pathogenic | — |
| RS111033570 | Health Risk | Pathogenic | Sarcotubular myopathy, Myopathy, Bardet-Biedl syndrome |
| RS1180939705 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1221660946 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1228615020 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1249127983 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1272966742 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1554733019 | Health Risk | Pathogenic | — |
| RS1564218190 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1861000401 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1861023658 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2132071763 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2132072043 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2132075143 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2132075382 | Health Risk | Pathogenic | Sarcotubular myopathy, Sarcotubular myopathy |
| RS2491057309 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2491057357 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2491058742 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2491060020 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2491060192 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2491061793 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2491062333 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2491063414 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2491063429 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2491063488 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2491068324 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS35904234 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS398124253 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS747266069 | Health Risk | Pathogenic | Sarcotubular myopathy, Bardet-Biedl syndrome, Sarcotubular myopathy |
| RS770884964 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS771537352 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS886044692 | Health Risk | Pathogenic | — |
| RS111033571 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 11, Bardet-Biedl syndrome, TRIM32-related disorder |
| RS1554732623 | Health Risk | Pathogenic/Likely pathogenic | TRIM32-related disorder, TRIM32-related disorder |
| RS1564217246 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 11, Sarcotubular myopathy, Bardet-Biedl syndrome 11 |
| RS1588218453 | Health Risk | Pathogenic/Likely pathogenic | Sarcotubular myopathy, Bardet-Biedl syndrome 11, Bardet-Biedl syndrome |
| RS2132072315 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11 |
| RS746321506 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11 |
| RS747685252 | Health Risk | Pathogenic/Likely pathogenic | Limb-girdle muscular dystrophy, Bardet-Biedl syndrome, Bardet-Biedl syndrome 11 |
| RS749696299 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Sarcotubular myopathy, Bardet-Biedl syndrome 11 |
| RS759376012 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, TRIM32-related disorder, Sarcotubular myopathy |
| RS886044106 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, TRIM32-related disorder, Bardet-Biedl syndrome |