TRIM32

Chr 9

tripartite motif containing 32

Also known as: BBS11, HT2A, LGMD2H, LGMDR8, TATIP

NCBI Gene: 22954 ENSG00000119401 UniProt: Q13049

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy, limb-girdle, autosomal recessive 8

UniProtBardet-Biedl syndrome 11

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.85

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TRIM32