TRIM32
Chr 9ARtripartite motif containing 32
Also known as: BBS11, HT2A, LGMD2H, LGMDR8, TATIP
TRIM32 encodes a tripartite motif protein that localizes to cytoplasmic bodies and the nucleus, where it interacts with transcriptional machinery. Mutations cause autosomal recessive limb-girdle muscular dystrophy type 8 and Bardet-Biedl syndrome 11 through a predicted gain-of-function mechanism. The low pLI score (0.0017) indicates tolerance to loss-of-function variants, consistent with the gain-of-function pathogenic mechanism.
Limited evidence — not for standalone diagnostic reporting
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TRIM32 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
NLRP3 Inflammasome and Physical Therapy in ICU-Acquired Weakness
RECRUITINGExercise to Fight Obesity
RECRUITINGExternal Resources
Links to major genomics databases and tools