TRIM56 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the TRIM56 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | TRIM56 |
|---|---|
| Full Name | Tripartite motif containing 56 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 81888 ncbi.nlm.nih.gov/gene/81888 |
| Ensembl ID | ENSG00000169826 |
| UniProt ID | Q9BRZ2 |
| OMIM ID | 618154 |
| HGNC ID | 27592 |
| Aliases | RNF109; FLJ10154 |
Description
TRIM56 (Tripartite Motif Containing 56) is a protein-coding gene located on chromosome 7q22.1. It encodes a member of the tripartite motif (TRIM) family, characterized by RING, B-box, and coiled-coil domains. TRIM56 functions as an E3 ubiquitin ligase and plays critical roles in innate immune responses, particularly antiviral signaling, and may influence tumor suppression. Its protein is involved in ubiquitination and regulation of interferon signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Viral infections (e.g., influenza, flavivirus) | TRIM56 restricts viral replication by ubiquitinating viral proteins or enhancing innate immune signaling | PMID: 27466418; PMID: 29263247 |
| Hepatocellular carcinoma | Downregulation of TRIM56 in tumors may promote cancer progression via altered immune surveillance | PMID: 31578322 |
| Systemic lupus erythematosus (SLE) | Genetic variants in TRIM56 may modulate interferon responses, contributing to autoimmunity | ClinVar: rs149721484; PMID: 29263247 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Spleen | 10.1 | Medium |
| Liver | 8.5 | Low |
| Kidney | 7.2 | Low |
| Brain | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical carcinoma; high expression |
| A549 | 11.8 | Lung carcinoma; moderate |
| HepG2 | 9.4 | Liver carcinoma; moderate |
| K562 | 6.1 | Leukemia; low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.001% (gnomAD) | May affect protein stability; reported in ClinVar as uncertain significance |
| c.1546A>G (p.Ile516Val) | Missense | 0.002% | Likely benign; no functional impact known |
| c.2011_2012del (p.Leu671fs) | Frameshift | Rare | Predicted loss-of-function; may impair antiviral activity |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are predicted to abolish E3 ligase activity, leading to impaired antiviral responses and potential increased susceptibility to viral infections.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TRIM56 in the literature or databases.
Dominant Negative (DN)
Missense mutations in the RING domain could potentially exert dominant-negative effects by interfering with dimerization or substrate binding, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RIG-I/MDA5 signaling pathway
• Innate Immune System
• Ubiquitin mediated proteolysis
Protein Summary
The TRIM56 protein is a 755-amino acid E3 ubiquitin ligase with a RING finger domain, B-box, coiled-coil, and a C-terminal NHL repeat domain. It localizes to the cytoplasm and is involved in ubiquitination of target proteins, including viral components and signaling molecules. TRIM56 enhances innate immune responses by promoting the ubiquitination of STING and TBK1, thereby activating type I interferon production. It also restricts replication of several RNA viruses, including influenza A virus and flaviviruses. Additionally, TRIM56 may play a role in tumor suppression by modulating p53 signaling and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIM56 Knockout HEK293 Cell Line | EDJ-KQ2107 | Human | 81844 | Details Get a Quote |
| TRIM56 Knockout HeLa Cell Line | EDJ-KQ20935 | Human | 81844 | Details Get a Quote |
| TRIM56 Knockout A-549 Cell Line | EDJ-KQ22229 | Human | 81844 | Details Get a Quote |
| TRIM56 Knockout HCT 116 Cell Line | EDJ-KQ22230 | Human | 81844 | Details Get a Quote |
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