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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TRIM2
tripartite motif containing 2
Chromosome 4 Β· 4q31.3
NCBI Gene: 23321Ensembl: ENSG00000109654.16HGNC: HGNC:15974UniProt: A0A0J9YW02
71PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytoplasmprotein polyubiquitinationubiquitin-protein transferase activityCharcot-Marie-Tooth disease type 2Rthyrotoxic periodic paralysisTietze syndromeAbnormality of the integument
✦AI Summary

TRIM2 is an 81 kDa E3 ubiquitin ligase located at chromosome 4.3 that plays diverse roles in neuroprotection and cellular homeostasis 1. As an E3 ubiquitin ligase, TRIM2 mediates polyubiquitination of multiple substrates including neurofilament light chain (NEFL) and pro-apoptotic proteins. TRIM2 ubiquitinates phosphorylated BCL2L11 and BNIP3, targeting them for proteasomal degradation to inhibit apoptosis 2. Additionally, TRIM2 enhances carnitine palmitoyltransferase 1A (CPT1A) activity independent of its ubiquitin ligase function, promoting fatty acid oxidation during metabolic stress 3. TRIM2 participates in antiviral immunity by limiting New World arenavirus infection and restricts influenza and measles virus replication through autophagy regulation 4. TRIM2 self-associates through its RING domain to achieve catalytic activity, with subtle amino acid variations distinguishing it functionally from paralogous TRIM3 5. Clinically, biallelic TRIM2 mutations cause Charcot-Marie-Tooth disease type 2R, an axonal neuropathy 6. TRIM2 is downregulated in aldosterone-producing adenomas, where its loss contributes to excessive aldosterone synthesis 7. Thus TRIM2 functions as a multifaceted regulator controlling neuronal survival, metabolic adaptation, and immune responses.

Sources cited
1
TRIM2 is an 81 kDa E3 ubiquitin ligase at 4q31.3 with roles in neuroprotection, neuronal ischemic tolerance, and antiviral responses
PMID: 36051486
2
TRIM2 mediates K48-linked polyubiquitination of BNIP3 at K130, targeting it for proteasomal degradation to inhibit apoptosis
PMID: 40883557
3
TRIM2 enhances CPT1A enzymatic activity independent of ubiquitin ligase activity to promote fatty acid oxidation during glutamine deprivation
PMID: 38949993
4
TRIM2 suppresses autophagy through CSNK2-mediated phosphorylation and restricts viral replication of influenza, measles, and HIV-1
PMID: 37938186
5
TRIM2 self-associates through its RING domain to achieve E3 ligase activity, distinguishing it functionally from paralogous TRIM3
PMID: 36481767
6
TRIM2 mutations are associated with Charcot-Marie-Tooth disease, a highly heterogeneous inherited neuromuscular disorder
PMID: 34602496
7
TRIM2 is downregulated in aldosterone-producing adenomas and negatively regulates CYP11B2 through K29/48-linked polyubiquitination
PMID: 39725733
Disease Associationsβ“˜21
Charcot-Marie-Tooth disease type 2ROpen Targets
0.67Moderate
thyrotoxic periodic paralysisOpen Targets
0.31Weak
Tietze syndromeOpen Targets
0.29Weak
Abnormality of the integumentOpen Targets
0.28Weak
thrombophiliaOpen Targets
0.23Weak
cardiomyopathyOpen Targets
0.22Weak
ovarian neoplasmOpen Targets
0.22Weak
cervical carcinomaOpen Targets
0.22Weak
axonal neuropathyOpen Targets
0.12Weak
nonpapillary renal cell carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
infectionOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.08Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.07Suggestive
X-linked corneal dermoidOpen Targets
0.06Suggestive
progressive myoclonic epilepsy type 3Open Targets
0.06Suggestive
Adult-onset autosomal recessive cerebellar ataxiaOpen Targets
0.06Suggestive
Charcot-Marie-Tooth disease, axonal, type 2RUniProt
Pathogenic Variants6
NM_015271.5(TRIM2):c.232_233dup (p.Pro79fs)Pathogenic
Charcot-Marie-Tooth disease type 2R
β˜…β˜†β˜†β˜†2026β†’ Residue 79
NM_015271.5(TRIM2):c.1968dup (p.Val657fs)Likely pathogenic
Charcot-Marie-Tooth disease type 2R
β˜…β˜†β˜†β˜†2025β†’ Residue 657
NM_015271.5(TRIM2):c.2_5dup (p.Arg3fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 3
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala)Likely pathogenic
Charcot-Marie-Tooth disease type 2R
β˜…β˜†β˜†β˜†2015β†’ Residue 667
NM_015271.5(TRIM2):c.761A>T (p.Glu254Val)Pathogenic
Charcot-Marie-Tooth disease type 2R
β˜†β˜†β˜†β˜†2013β†’ Residue 254
NM_015271.5(TRIM2):c.1781del (p.Lys594fs)Pathogenic
Charcot-Marie-Tooth disease type 2R
β˜†β˜†β˜†β˜†2013β†’ Residue 594
View on ClinVar β†—
Related Genes
NEFLProtein interaction72%NHLRC3Shared pathway67%RMND5AShared pathway67%SPOPShared pathway50%FBXO28Shared pathway50%MARCHF8Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Heart
25%
Ovary
18%
Liver
15%
Lung
6%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
TRIM2NEFLNHLRC3RMND5ASPOPFBXO28MARCHF8
PROTEIN STRUCTURE
Preparing viewer…
PDB7QRV Β· 1.45 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.40Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.27 [0.18–0.40]
RankingsWhere TRIM2 stands among ~20K protein-coding genes
  • #6,686of 20,598
    Most Researched71
  • #3,367of 5,498
    Most Pathogenic Variants6
  • #1,988of 17,882
    Most Constrained (LOEUF)0.40 Β· top quartile
Genes detectedTRIM2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Expression and Role of TRIM2 in Human Diseases.
PMID: 36051486
Biomed Res Int Β· 2022
0.90
3
Divergent self-association properties of paralogous proteins TRIM2 and TRIM3 regulate their E3 ligase activity.
PMID: 36481767
Nat Commun Β· 2022
0.80
4
TRIM2 inhibits apoptosis by ubiquitinating BNIP3 to protect the intestine against ischemia-reperfusion injury in mice.
PMID: 40883557
Commun Biol Β· 2025
0.70
5
E3 ubiquitin ligase TRIM2 identified as a novel suppressor of CYP11B2 and aldosterone production.
PMID: 39725733
Cell Mol Life Sci Β· 2024
0.60