TRIM32

Chr 9AR

tripartite motif containing 32

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

NCBI Gene: 22954ENSG00000119401UniProt: Q13049

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]

Primary Disease Associations & Inheritance

?Bardet-Biedl syndrome 11MIM #615988
AR
Muscular dystrophy, limb-girdle, autosomal recessive 8MIM #254110
AR
862
ClinVar variants
57
Pathogenic / LP
0.00
pLI score
2
Active trials
Clinical Summary— TRIM32
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
57 Pathogenic / Likely Pathogenic· 168 VUS of 862 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.85LOEUF
pLI 0.002
Z-score 1.98
OE 0.45 (0.26–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.83Z-score
OE missense 0.88 (0.81–0.96)
335 obs / 380.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.45 (0.26–0.85)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.81–0.96)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.93
0≤1.21.6
LoF obs/exp: 7 / 15.4Missense obs/exp: 335 / 380.4Syn Z: 0.62

ClinVar Variant Classifications

862 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35
Likely Pathogenic22
VUS168
Likely Benign173
35
Pathogenic
22
Likely Pathogenic
168
VUS
173
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
12
0
23
0
35
Likely Pathogenic
11
1
10
0
22
VUS
2
140
26
0
168
Likely Benign
0
1
2
170
173
Benign
0
0
0
0
0
Total2514261170398

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.

Gene2Phenotype Curations

TRIM32-related Bardet-Biedl syndrome

limited
ARUndeterminedUncertain
Dev. DisordersEye
G2P ↗

TRIM32-related limb-girdle muscular dystrophy

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Bardet-Biedl syndrome 11

MIM #615988

Molecular basis of disorder known

Autosomal recessive

Muscular dystrophy, limb-girdle, autosomal recessive 8

MIM #254110

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
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
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
The TRIM32 geno-phenotype spectrum: a literature review and 25-year clinical follow-up of two brothers living with sarcotubular myopathy.
Caputo M et al.·Acta Myol
2024Review
TRIM32 inhibits Venezuelan equine encephalitis virus infection by targeting a late step in viral entry.
Xie Y et al.·PLoS Pathog
2024
TRIM32: A Multifunctional Protein Involved in Muscle Homeostasis, Glucose Metabolism, and Tumorigenesis.
Bawa S et al.·Biomolecules
2021Review
TRIM32 ubiquitin E3 ligase, one enzyme for several pathologies: From muscular dystrophy to tumours.
Lazzari E et al.·Int J Biochem Cell Biol
2016Review
Limb-girdle muscular dystrophy 2H and the role of TRIM32.
Shieh PB et al.·Handb Clin Neurol
2011Review
TRIM32 promotes oral squamous cell carcinoma progression by enhancing FBP2 ubiquitination and degradation.
Yang X et al.·Biochem Biophys Res Commun
2023
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.
Liewluck T et al.·Neuromuscul Disord
2013Review
Acetylation-ubiquitination crosstalk of DJ-1 mediates microcalcification formation in diabetic plaques via collagen-matrix vesicles interaction.
Sun Z et al.·Cardiovasc Res
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Critical Illness Myopathy

NLRP3 Inflammasome and Physical Therapy in ICU-Acquired Weakness

NOT YET RECRUITING
NCT07017517Phase NAUniversity of ChileStarted 2025-11
Motomed Letto® servo-assisted cycling + standard physiotherapyStandard physiotherapy
Morbid ObesityBariatric SurgeryTelerehabilitation

Exercise to Fight Obesity

RECRUITING
NCT06934681Phase NAInstituto de Investigacion Sanitaria La FeStarted 2025-05-19
Usual Care GroupControlled exercise with telerehabilitation

External Resources

Links to major genomics databases and tools