TRIM72

Chr 16

tripartite motif containing 72

Also known as: MG53

NCBI Gene: 493829ENSG00000177238UniProt: Q6ZMU5

Enables identical protein binding activity. Predicted to be involved in several processes, including plasma membrane repair; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein homooligomerization. Predicted to act upstream of or within negative regulation of insulin receptor signaling pathway; negative regulation of insulin-like growth factor receptor signaling pathway; and negative regulation of myotube differentiation. Predicted to be located in cytoplasmic vesicle membrane. Predicted to be active in cytoplasm and sarcolemma. [provided by Alliance of Genome Resources, Jul 2025]

128
ClinVar variants
10
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— TRIM72
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 107 VUS of 128 total submissions

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.
1.05LOEUF
pLI 0.000
Z-score 1.42
OE 0.60 (0.36–1.05)
Tolerant

Highly tolerant — LoF variants common in population

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.
1.45Z-score
OE missense 0.75 (0.67–0.84)
198 obs / 264.5 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.0.60 (0.36–1.05)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.75 (0.67–0.84)
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.0.78
0≤1.21.6
LoF obs/exp: 9 / 14.9Missense obs/exp: 198 / 264.5Syn Z: 1.88

ClinVar Variant Classifications

128 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic1
VUS107
Likely Benign6
Benign2
9
Pathogenic
1
Likely Pathogenic
107
VUS
6
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
1
0
1
VUS
0
100
7
0
107
Likely Benign
0
5
0
1
6
Benign
0
1
0
1
2
Total0106172125

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

View in ClinVar →

Protein Context — Lollipop Plot

TRIM72 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Pathogenic mechanisms of disease in idiopathic inflammatory myopathies: autoantibodies as clues.
Wu Y et al.·Front Immunol
2024Review
MG53 is a double-edged sword for human diseases.
Zhang Y et al.·Sheng Li Xue Bao
2016Review
Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy.
Tlili A et al.·Hum Genomics
2025
Autoantibodies targeting TRIM72 compromise membrane repair and contribute to inflammatory myopathy.
McElhanon KE et al.·J Clin Invest
2020
TRIM72 Immunohistochemical Expression Can Predict Relapse in Colorectal Carcinoma.
Fernández-Aceñero MJ et al.·Pathol Oncol Res
2020
Serum Levels of TRIM72 Are Lower among Patients with Colon Cancer: Identification of a Potential Diagnostic Marker.
Chen Z et al.·Tohoku J Exp Med
2018Cohort
MG53: A new protagonist in the precise treatment of cardiomyopathies.
Zhao Q et al.·Biochem Pharmacol
2024Review
Cytoplasmic HDAC4 regulates the membrane repair mechanism in Duchenne muscular dystrophy.
Renzini A et al.·J Cachexia Sarcopenia Muscle
2022Functional
Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.
Lemckert FA et al.·Cardiovasc Res
2016
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

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools