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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TRIM51
tripartite motif-containing 51
Chromosome 11 Β· 11q12.1
NCBI Gene: 84767Ensembl: ENSG00000124900.12HGNC: HGNC:19023UniProt: Q9BSJ1
6PubMed Papers
12Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ubiquitin protein ligase activityregulation of gene expressioninnate immune responsecytoplasmneurodegenerative diseasemelanomatype 2 diabetes mellituscancer
✦AI Summary

TRIM51 is a tripartite motif-containing protein with E3 ubiquitin ligase activity encoded by a core duplicon gene family member on chromosome 11. Structurally, TRIM51 is characterized by significant intrinsic disorder, with disordered regions facilitating protein-protein interactions and serving as substrates for posttranslational modifications 1. The protein localizes to the cytoplasm and participates in innate immune response and gene expression regulation pathways according to Gene Ontology annotations. Regarding disease relevance, TRIM51 has emerged as a potential genetic modifier in two complex diseases. A common variant (rs11604583) near the TRIM51 locus was associated with deep vein thrombosis (DVT) risk in large-scale genome-wide association studies, with polygenic risk scores incorporating this variant showing improved DVT prediction capacity 2. Additionally, TRIM51 variants showed association with clinical severity heterogeneity in hemoglobin E/beta-thalassemia patients, though statistical significance was lost after multiple testing correction 3. These findings suggest TRIM51 may modulate disease phenotypes through its ubiquitin ligase function, though its specific biological mechanisms in these disease contexts require further investigation.

Sources cited
1
TRIM51 is encoded by a core duplicon gene family and exhibits significant intrinsic disorder with disordered regions used for protein-protein interactions and posttranslational modifications
PMID: 32880174
2
A common variant (rs11604583) near TRIM51 region is associated with deep vein thrombosis risk in genome-wide association studies
PMID: 37331118
3
TRIM51 variants showed association with clinical severity in hemoglobin E/beta-thalassemia patients in rare variant association studies
PMID: 36939018
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜12
neurodegenerative diseaseOpen Targets
0.37Weak
melanomaOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
cancerOpen Targets
0.02Suggestive
Uveal MelanomaOpen Targets
0.01Suggestive
metastatic melanomaOpen Targets
0.01Suggestive
Down syndromeOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
deep vein thrombosisOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
RFPL4AL1Shared pathway100%TRIM43BShared pathway100%TRIM64CShared pathway100%TRIM49CShared pathway100%TRIM64BShared pathway100%RFPL4BShared pathway100%
Tissue Expression6 tissues
Lung
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
TRIM51RFPL4AL1TRIM43BTRIM64CTRIM49CTRIM64BRFPL4B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BSJ1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.17LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.58–1.17]
RankingsWhere TRIM51 stands among ~20K protein-coding genes
  • #18,241of 20,598
    Most Researched6
  • #12,205of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedTRIM51
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Intrinsic Disorder in Human Proteins Encoded by Core Duplicon Gene Families.
PMID: 32880174
J Phys Chem B Β· 2020
1.00
2
Polygenic risk scores and risk stratification in deep vein thrombosis.
PMID: 37331118
Thromb Res Β· 2023
0.67
3
Whole exome sequencing and rare variant association study to identify genetic modifiers,
PMID: 36939018
Hematology Β· 2023
0.33