TRIM72: Tripartite Motif Containing 72
A key regulator of membrane repair and cardiac protection
Gene Information Card
| Symbol | TRIM72 |
|---|---|
| Full Name | Tripartite Motif Containing 72 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 493829 ncbi.nlm.nih.gov/gene/493829 |
| Ensembl ID | ENSG00000197275 |
| UniProt ID | Q6ZMU5 |
| OMIM ID | 613288 |
| HGNC ID | 32671 |
| Aliases | MG53, mitsugumin 53 |
Description
TRIM72, also known as MG53 (mitsugumin 53), encodes a member of the tripartite motif (TRIM) family. The protein is a muscle-specific E3 ubiquitin ligase that plays a critical role in cell membrane repair by facilitating the recruitment of vesicles to injury sites. It is also involved in cardiac protection against ischemia-reperfusion injury and in regulating insulin signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscular dystrophy (limb-girdle type) | Impaired membrane repair due to TRIM72 deficiency leads to muscle fiber degeneration. | PMID: 19364908 |
| Myocardial ischemia-reperfusion injury | TRIM72 mediates cardioprotection by promoting membrane repair and reducing oxidative stress. | PMID: 20044567 |
| Type 2 diabetes | TRIM72 negatively regulates insulin signaling by promoting IRS-1 ubiquitination. | PMID: 23505220 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 48.2 | High |
| Heart | 32.1 | High |
| Liver | 0.3 | Not detected |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| C2C12 (mouse myoblast) | 45.0 | High expression; used in muscle differentiation studies |
| H9c2 (rat cardiomyoblast) | 38.5 | Moderate expression; relevant for cardiac studies |
| HEK293 | 0.2 | Very low; not endogenous |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.485C>T (p.Pro162Leu) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
TRIM72 loss-of-function mutations impair membrane repair, contributing to muscle degeneration and increased susceptibility to cardiac injury.
Gain of Function (GOF)
Not well characterized; no confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not reported for TRIM72.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Membrane repair pathway (Reactome: R-HSA-5620912)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
TRIM72 (MG53) is a 477-amino acid protein containing an N-terminal RING finger domain, two B-box domains, and a coiled-coil region. It is predominantly expressed in striated muscle (skeletal and cardiac). The protein acts as an E3 ubiquitin ligase and is essential for acute membrane repair by nucleating the assembly of a repair patch at sites of sarcolemmal damage. It also modulates insulin signaling and protects the heart from ischemia-reperfusion injury.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIM72 Knockout HEK293 Cell Line | EDJ-KQ15930 | Human | 493829 | Details Get a Quote |
| TRIM72 Knockout HCT 116 Cell Line | EDJ-KQ46939 | Human | 493829 | Details Get a Quote |
| TRIM72 Knockout HeLa Cell Line | EDJ-KQ60474 | Human | 493829 | Details Get a Quote |
| TRIM72 Knockout A-549 Cell Line | EDJ-KQ68944 | Human | 493829 | Details Get a Quote |
