TRIM32

Chr 9AR

tripartite motif containing 32

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

NCBI Gene: 22954ENSG00000119401UniProt: Q13049OMIM: 602290

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.

OMIMResearchSummary from RefSeq, OMIM, UniProt, Mechanism
LOFmechanismARLOEUF 0.852 OMIM phenotypes
Clinical Summary— TRIM32
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Gene-Disease Validity (ClinGen)
Bardet-Biedl syndrome 11 · ARLimited

Limited evidence — not for standalone diagnostic reporting

2 total gene-disease associations curated

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
50 unique Pathogenic / Likely Pathogenic· 117 VUS of 300 total submissions
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.85LOEUF
pLI 0.002
Z-score 1.98
OE 0.45 (0.26–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.83Z-score
OE missense 0.88 (0.81–0.96)
335 obs / 380.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.45 (0.26–0.85)
0≤0.351.4
Missense OE0.88 (0.81–0.96)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 7 / 15.4Missense obs/exp: 335 / 380.4Syn Z: 0.62
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedTRIM32-related Bardet-Biedl syndromeOTHERAR
definitiveTRIM32-related limb-girdle muscular dystrophyLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.7230th %ile
GOF
0.72top 25%
LOF
0.2580th %ile

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

300 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic29
Likely Pathogenic21
VUS117
Likely Benign131
29
Pathogenic
21
Likely Pathogenic
117
VUS
131
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
22
0
7
0
29
Likely Pathogenic
20
1
0
0
21
VUS
2
105
10
0
117
Likely Benign
0
1
2
128
131
Benign
0
0
0
0
0
Total4410719128298

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View 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
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
CDK2-activated TRIM32 phosphorylation and nuclear translocation promotes radioresistance in triple-negative breast cancer.
Tang J et al.·J Adv Res
2024
TRIM32: A Multifunctional Protein Involved in Muscle Homeostasis, Glucose Metabolism, and Tumorigenesis.
Bawa S et al.·Biomolecules
2021Review
TRIM32 promotes oral squamous cell carcinoma progression by enhancing FBP2 ubiquitination and degradation.
Yang X et al.·Biochem Biophys Res Commun
2023
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L et al.·Clin Genet
2019Cohort
Knockdown of TRIM32 inhibits tumor growth and increases the therapeutic sensitivity to temozolomide in glioma in a p53-dependent and -independent manner.
Cai Y et al.·Biochem Biophys Res Commun
2021
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients