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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TRIM74
tripartite motif containing 74
Chromosome 7 · 7q11.23
NCBI Gene: 378108Ensembl: ENSG00000155428.13HGNC: HGNC:17453UniProt: Q86UV6
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin protein ligase activityinnate immune responsecytoplasmzinc ion bindingneurodegenerative diseaseinflammatory bowel disease 30Abnormality of the skeletal systemFamilial gastric cancer
✦AI Summary

TRIM74 is a tripartite motif-containing ubiquitin ligase located on chromosome 7 that functions in protein homeostasis and quality control 1. As an E3 ubiquitin ligase family member 2, TRIM74 participates in ubiquitination pathways and transcriptional regulation essential for maintaining neuronal integrity 1. The gene evolved through segmental duplication events in primates, with TRIM74 arising as a duplicated copy of TRIM50 containing five exons rather than the original seven 3. Pathogenic mutations in TRIM74 disrupt protein folding and stability, triggering proteotoxic neurodegeneration. A homozygous missense variant (p.Pro121Leu) caused structural destabilization, increased protein aggregation, cytosolic accumulation, and elevated proteotoxic stress in patient-derived cells, manifesting as global developmental delay, seizures, and cerebral atrophy 1. TRIM74 expression is highest in the cerebellum and medulla, consistent with observed neurological involvement 1. Clinically, TRIM74 dysregulation associates with disease progression in nasopharyngeal carcinoma, where upregulation correlates with distant metastasis and poor disease-free survival 4. Additionally, rare pathogenic variants in TRIM74 have been identified in syndromic orofacial clefts with limb abnormalities, suggesting developmental roles beyond neuronal function 5.

Sources cited
1
TRIM74 is a ubiquitin ligase essential for protein homeostasis and neuronal survival; pathogenic Pro121Leu mutation causes protein destabilization, aggregation, and neurodegenerative neurodegeneration with developmental delay and seizures
PMID: 40735933
2
TRIM74 upregulation is associated with distant metastasis and poor disease-free survival in nasopharyngeal carcinoma
PMID: 36107539
3
TRIM74 belongs to the TRIM gene family of E3 ubiquitin ligases and is related to developmental disease pathogenesis
PMID: 18398435
4
TRIM74 arose through segmental duplication from TRIM50, containing five exons instead of the original seven, demonstrating evolutionary structural variation
PMID: 26196062
5
Rare pathogenic variants in TRIM74 are implicated in syndromic orofacial clefts with limb abnormalities, suggesting developmental roles
PMID: 41510282
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
inflammatory bowel disease 30Open Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
CDH1-related diffuse gastric and lobular breast cancer syndromeOpen Targets
0.03Suggestive
Familial gastric cancerOpen Targets
0.03Suggestive
goutOpen Targets
0.03Suggestive
NK-cell enteropathyOpen Targets
0.03Suggestive
HypercholesterolemiaOpen Targets
0.02Suggestive
orthostatic hypotensionOpen Targets
0.02Suggestive
PainOpen Targets
0.02Suggestive
response to xenobiotic stimulusOpen Targets
0.02Suggestive
Abdominal painOpen Targets
0.02Suggestive
HeadacheOpen Targets
0.02Suggestive
Limb painOpen Targets
0.02Suggestive
nasopharyngeal carcinomaOpen Targets
0.01Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPP1R14BShared pathway100%BSPRYShared pathway100%ANKHD1Shared pathway100%CYBC1Shared pathway100%TRIM50Shared pathway100%TRIML2Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Liver
93%
Bone Marrow
60%
Lung
27%
Brain
20%
Heart
0%
Gene Interaction Network
Click a node to explore
TRIM74PPP1R14BBSPRYANKHD1CYBC1TRIM50TRIML2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86UV6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.23Tolerant
Observed/Expected LoF0.48 [0.20–1.46]
RankingsWhere TRIM74 stands among ~20K protein-coding genes
  • #15,160of 20,598
    Most Researched17
  • #14,927of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedTRIM74
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Bioinformatics analysis identifies potential biomarkers involved in the metastasis of locoregionally advanced nasopharyngeal carcinoma.
PMID: 36107539
Medicine (Baltimore) · 2022
1.00
2
Pathogenic TRIM74 Mutation Disrupts Protein Homeostasis and Triggers Proteotoxic Neurodegeneration via Structural Destabilization.
PMID: 40735933
ACS Chem Neurosci · 2025
0.80
3
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
PMID: 18398435
Eur J Hum Genet · 2008
0.60
4
Gene structure variation in segmental duplication block C of human chromosome 7q 11.23 during primate evolution.
PMID: 26196062
Gene · 2015
0.40
5
Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.
PMID: 41510282
Res Sq · 2025
0.20