TRIM2 Gene: E3 Ubiquitin-Protein Ligase in Neuropathy and Cancer
Comprehensive resource on TRIM2 (Tripartite Motif Containing 2): genomic data, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | TRIM2 |
|---|---|
| Full Name | Tripartite Motif Containing 2 |
| Gene Type | protein coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 23321 ncbi.nlm.nih.gov/gene/23321 |
| Ensembl ID | ENSG00000109654 |
| UniProt ID | Q9C040 |
| OMIM ID | 607406 |
| HGNC ID | 15975 |
| Aliases | KIAA0517, RNF86 |
Description
TRIM2 encodes a member of the tripartite motif (TRIM) family, characterized by RING finger, B-box, and coiled-coil domains. TRIM2 functions as an E3 ubiquitin-protein ligase, mediating ubiquitination of target proteins such as neurofilament light chain (NEFL) and myosin regulatory light chain (MYL9). It plays critical roles in neuronal cytoskeleton regulation, axonal integrity, and cellular stress responses. Mutations in TRIM2 are associated with autosomal recessive Charcot-Marie-Tooth disease type 2R (CMT2R) and other peripheral neuropathies. Altered TRIM2 expression has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 2R (CMT2R) | Loss-of-function mutations impair ubiquitination of NEFL, leading to abnormal neurofilament accumulation and axonal degeneration. | OMIM: 607406; ClinVar: pathogenic variants |
| Peripheral neuropathy (axonal) | Biallelic mutations in TRIM2 cause early-onset axonal neuropathy with developmental delay. | Case reports in PubMed; OMIM |
| Cancer (various types) | Dysregulation of TRIM2 expression affects ubiquitination of tumor suppressors/oncogenes, influencing proliferation and apoptosis. | COSMIC: somatic mutations and expression changes in multiple cancer types |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.2 | Medium |
| Nerve | 15.7 | Medium |
| Testis | 12.3 | Low |
| Kidney | 8.9 | Low |
| Liver | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 22.5 | High expression; used in neuronal studies |
| HeLa (cervical carcinoma) | 12.1 | Moderate expression |
| A549 (lung carcinoma) | 9.8 | Low expression |
| MCF7 (breast carcinoma) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1102C>T (p.Arg368Ter) | Nonsense | Rare (found in CMT2R families) | Loss of function; truncation of RING domain |
| c.1399C>T (p.Arg467Cys) | Missense | Rare (reported in neuropathy) | Likely loss of function; disrupts coiled-coil domain |
| c.1930A>G (p.Thr644Ala) | Missense | Somatic (COSMIC) | Unknown; possibly gain-of-function in cancer |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations in TRIM2 are loss-of-function, leading to reduced ubiquitin ligase activity and accumulation of substrates like NEFL, causing axonal neuropathy.
Gain of Function (GOF)
Some somatic mutations in cancer may confer oncogenic gain-of-function, but evidence is limited and not fully characterized.
Dominant Negative (DN)
No clear dominant-negative mechanism reported; TRIM2 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • zinc ion binding |
| • protein binding | • ubiquitin-dependent protein catabolic process |
| • neurofilament cytoskeleton organization | • axon development |
| • nervous system development |
Pathways
• Ubiquitin-proteasome pathway
• Neurofilament assembly and maintenance
• Axonal transport and degeneration
Protein Summary
TRIM2 is a 911-amino acid protein with a RING finger domain (E3 ligase activity), B-box, coiled-coil, and NHL repeats. It ubiquitinates NEFL and MYL9, regulating neurofilament network and cell contractility. TRIM2 is expressed in neurons and various tissues, and its dysfunction leads to neurodegeneration. In cancer, TRIM2 may modulate apoptosis and cell cycle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIM25 Knockout HEK293 Cell Line | EDJ-KQ604 | Human | 7706 | Details Get a Quote |
| TRIM21 Knockout HEK293 Cell Line | EDC07925 | Human | 6737 | Details Get a Quote |
| TRIM26 Knockout HEK293 Cell Line | EDJ-KQ2391 | Human | 7726 | Details Get a Quote |
| TRIM27 Knockout HEK293 Cell Line | EDJ-KQ2707 | Human | 5987 | Details Get a Quote |
| TRIM23 Knockout HEK293 Cell Line | EDJ-KQ4076 | Human | 373 | Details Get a Quote |
| TRIM24 Knockout HEK293 Cell Line | EDJ-KQ6372 | Human | 8805 | Details Get a Quote |
| TRIM22 Knockout HEK293 Cell Line | EDJ-KQ6379 | Human | 10346 | Details Get a Quote |
| TRIM29 Knockout HEK293 Cell Line | EDJ-KQ8110 | Human | 23650 | Details Get a Quote |
| TRIM25 Knockout A-549 Cell Line | EDC09755 | Human | 7706 | Details Get a Quote |
| TRIM25 Knockout HCT 116 Cell Line | EDJ-KQ19056 | Human | 7706 | Details Get a Quote |
| TRIM21 Knockout A-549 Cell Line | EDC07660 | Human | 6737 | Details Get a Quote |
| TRIM21 Knockout HCT 116 Cell Line | EDJ-KQ20141 | Human | 6737 | Details Get a Quote |
| TRIM27 Knockout A-549 Cell Line | EDJ-KQ24935 | Human | 5987 | Details Get a Quote |
| TRIM27 Knockout HCT 116 Cell Line | EDJ-KQ24937 | Human | 5987 | Details Get a Quote |
| TRIM27 Knockout HeLa Cell Line | EDJ-KQ24938 | Human | 5987 | Details Get a Quote |
- 1
- 2
- Next Page »
