HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
1 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.
TRIM49D1
tripartite motif containing 49D1
Chromosome 11 Β· 11q14.3
NCBI Gene: 399939Ensembl: ENSG00000223417.9HGNC: HGNC:37217UniProt: C9J1S8
3PubMed Papers
4Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ubiquitin protein ligase activityregulation of gene expressioninnate immune responsecytoplasmskin cancerGenu varumGenu valgumosteoarthritis
✦AI Summary

Based on limited published evidence, TRIM49D1 is a cytoplasmic ubiquitin protein ligase containing a tripartite motif domain with predicted roles in innate immune response and gene expression regulation. TRIM49D1 was identified as significantly differentially expressed in cells with truncated POU5F1 mutations associated with premature ovarian insufficiency 1, suggesting potential involvement in reproductive development, though direct functional studies of TRIM49D1 are lacking.

Sources cited
1
TRIM49D1 was significantly differentially expressed in POU5F1-truncated mutant cells linked to premature ovarian insufficiency, indicating possible involvement in reproductive/gonadal development pathways
PMID: 40744326
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜4
skin cancerOpen Targets
0.02Suggestive
Genu valgumOpen Targets
0.02Suggestive
Genu varumOpen Targets
0.02Suggestive
osteoarthritisOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
RFPL3Shared pathway100%RFPL2Shared pathway100%TRIM34Shared pathway100%TRIM49Shared pathway100%TRIM51Shared pathway100%TRIM4Shared pathway100%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
TRIM49D1RFPL3RFPL2TRIM34TRIM49TRIM51TRIM4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt C9J1S8
View on AlphaFold β†—
RankingsWhere TRIM49D1 stands among ~20K protein-coding genes
  • #19,050of 20,598
    Most Researched3
Genes detectedTRIM49D1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Sequence variant of POU5F1 as risk factor for premature ovarian insufficiency by mis-regulating transcription.
PMID: 40744326
Gene Β· 2025
1.00