TRIM62 Gene: Structure, Function, and Clinical Significance
Explore the TRIM62 gene, its protein product, associated diseases, expression patterns, and mutations. This comprehensive guide covers essential genomic information, molecular functions, and clinical relevance.
Gene Information Card
| Symbol | TRIM62 |
|---|---|
| Full Name | Tripartite Motif Containing 62 |
| Gene Type | protein coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 55223 ncbi.nlm.nih.gov/gene/55223 |
| Ensembl ID | ENSG00000116560 |
| UniProt ID | Q9BVG3 |
| OMIM ID | 610696 |
| HGNC ID | 25521 |
| Aliases | DEAR1, FLJ10154 |
Description
TRIM62 (Tripartite Motif Containing 62), also known as DEAR1 (Ductal Epithelium Associated RING Chromatin-1), is a protein-coding gene located on chromosome 1p35.1. It encodes a member of the tripartite motif (TRIM) family, characterized by a RING finger domain, a B-box, and a coiled-coil region. TRIM62 functions as an E3 ubiquitin-protein ligase, playing a critical role in various cellular processes including apoptosis, cell cycle regulation, and immune response. It is frequently downregulated in several cancers, suggesting a tumor suppressor role. The protein is involved in TGF-beta signaling and is a negative regulator of the innate immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Loss of TRIM62 expression is associated with epithelial-mesenchymal transition (EMT), increased metastasis, and poor prognosis. It acts as a tumor suppressor by promoting apoptosis and inhibiting cell migration. | Multiple studies show decreased TRIM62 mRNA and protein levels in invasive breast carcinomas compared to normal ductal epithelium. Low expression correlates with higher tumor grade and reduced survival. |
| Lung Cancer | Reduced TRIM62 expression promotes tumor cell proliferation, migration, and invasion. It may regulate the p53 signaling pathway. | Clinical samples show significant downregulation of TRIM62 in non-small cell lung cancer (NSCLC) tissues compared to adjacent normal tissues. |
| Colorectal Cancer | TRIM62 acts as a tumor suppressor by inhibiting the Wnt/β-catenin signaling pathway, thereby suppressing cell proliferation and invasion. | Studies demonstrate that TRIM62 is downregulated in colorectal cancer tissues and cell lines, and its overexpression inhibits tumor growth in vitro and in vivo. |
| Innate Immune Response | TRIM62 negatively regulates antiviral innate immune responses by mediating the ubiquitination and degradation of MAVS (Mitochondrial Antiviral-Signaling Protein). | In vitro studies show that TRIM62 interacts with MAVS and promotes its K48-linked polyubiquitination, leading to its proteasomal degradation and attenuation of type I interferon production. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 8.9 | Low |
| Lung | 7.2 | Low |
| Colon | 6.5 | Low |
| Kidney | 5.8 | Low |
| Liver | 4.1 | Not detected |
| Brain | 3.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast) | 12.5 | Moderate expression; used as a model for breast cancer studies. |
| A549 (Lung) | 9.8 | Low expression; often used to study lung cancer mechanisms. |
| HCT116 (Colon) | 8.1 | Low expression; commonly used in colorectal cancer research. |
| HEK293 (Embryonic Kidney) | 15.2 | Moderate expression; used for overexpression and functional studies. |
| HeLa (Cervical) | 6.3 | Low expression; used in various cellular and molecular biology experiments. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Ter) | Nonsense | Rare | Introduces a premature stop codon, leading to a truncated non-functional protein. Likely results in loss of function. |
| c.454A>G (p.Thr152Ala) | Missense | Rare | Substitutes threonine with alanine in the B-box domain. May affect protein stability or interactions. |
| c.821C>T (p.Pro274Leu) | Missense | Rare | Substitutes proline with leucine in the coiled-coil domain. Could disrupt dimerization or protein-protein interactions. |
| c.1003G>A (p.Asp335Asn) | Missense | Rare | Substitutes aspartic acid with asparagine in the SPRY domain. May alter substrate binding specificity. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations, such as the nonsense mutation p.Arg38Ter, are predicted to result in a truncated protein lacking critical domains (RING, B-box, coiled-coil, SPRY). This leads to a complete loss of E3 ligase activity and tumor suppressor function, contributing to cancer progression.
Gain of Function (GOF)
No clear gain-of-function mutations have been identified for TRIM62. Most reported mutations are either loss-of-function or have uncertain significance.
Dominant Negative (DN)
Missense mutations in the coiled-coil domain (e.g., p.Pro274Leu) could potentially exert a dominant-negative effect by forming non-functional heterodimers with the wild-type protein, thereby interfering with its normal function.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • metal ion binding |
| • protein binding | • zinc ion binding |
| • negative regulation of type I interferon production | • innate immune response |
| • apoptotic process | • negative regulation of cell population proliferation |
| • regulation of epithelial to mesenchymal transition | • proteasome-mediated ubiquitin-dependent protein catabolic process |
Pathways
• TGF-beta signaling pathway
• Innate Immune System
• Ubiquitin mediated proteolysis
• p53 signaling pathway (putative)
Protein Summary
The TRIM62 protein is a 475-amino acid E3 ubiquitin-protein ligase belonging to the TRIM family. It contains an N-terminal RING finger domain, one or two B-box domains, a coiled-coil region, and a C-terminal SPRY domain. The RING finger domain is responsible for its E3 ligase activity, mediating the transfer of ubiquitin from an E2 enzyme to specific substrates. TRIM62 is localized in the cytoplasm and nucleus. It plays a crucial role in regulating apoptosis, cell cycle, and immune signaling. It is known to interact with and ubiquitinate MAVS, leading to its degradation and negative regulation of antiviral responses. In cancer, TRIM62 acts as a tumor suppressor by inhibiting cell proliferation, migration, and invasion, and by promoting apoptosis. Its expression is often lost or reduced in aggressive tumors, correlating with poor patient outcomes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIM62 Knockout HEK293 Cell Line | EDJ-KQ15926 | Human | 55223 | Details Get a Quote |
| TRIM62 Knockout A-549 Cell Line | EDJ-KQ46932 | Human | 55223 | Details Get a Quote |
| TRIM62 Knockout HCT 116 Cell Line | EDJ-KQ46933 | Human | 55223 | Details Get a Quote |
| TRIM62 Knockout HeLa Cell Line | EDJ-KQ46934 | Human | 55223 | Details Get a Quote |
| TRIM62 Overexpression LX-2 Stable Cell Line | EDJ-GQ137 | Human | 55223 | Details Get a Quote |
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