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GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TRIM49
tripartite motif containing 49
Chromosome 11 · 11q14.3
NCBI Gene: 57093Ensembl: ENSG00000168930.13HGNC: HGNC:13431UniProt: E9PK69
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein kinase bindingprotein bindingubiquitin protein ligase activitycytoplasmskin canceredemaidiopathic osteonecrosis of the femoral headsystemic lupus erythematosus
✦AI Summary

TRIM49 is an E3 ubiquitin ligase involved in autophagy regulation and cancer suppression. Primary function: TRIM49 regulates ULK1-mediated autophagy initiation and photoreceptor outer segment phagocytosis by retinal pigment epithelium cells 1. The protein contains characteristic TRIM domains (RING, B-box, coiled-coil, and SPRY) and participates in autophagic protein degradation 2. Mechanistically, TRIM49 acts as a tumor suppressor in gastric adenocarcinoma by mediating polyubiquitination and proteasomal degradation of galectin-3, preventing assembly of a pro-invasive galectin-3/EGR1 transcriptional complex 3. Disease relevance: TRIM49 deficiency is associated with aggressive cancer invasiveness and metastasis in gastric adenocarcinoma, where reduced expression correlates with deeper tumor infiltration, lymph node metastasis, and shorter overall survival 3. Biallelic TRIM49 variants cause retinitis pigmentosa through impaired autophagy and retinal pigment epithelium dysfunction 1. TRIM49 variants are also associated with steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus patients 4. Clinical significance: Targeting the galectin-3/EGR1 complex with galectin-3 inhibitors like GB1107 may prevent metastasis in TRIM49-deficient gastric adenocarcinoma, and restoring RPE autophagy through TRIM49 represents a potential therapeutic approach for retinal degenerative diseases.

Sources cited
1
TRIM49 functions as an E3 ubiquitin ligase that suppresses gastric adenocarcinoma invasiveness by mediating galectin-3 degradation and preventing pro-invasive galectin-3/EGR1 complex formation
PMID: 40997315
2
TRIM49 regulates ULK1-mediated autophagy initiation and photoreceptor outer segment phagocytosis; biallelic TRIM49 variants cause retinitis pigmentosa
PMID: 40956390
3
TRIM49 protein contains RING and SPRY domains and plays a role in autophagic protein degradation, though without canonical E3 ligase activity in vitro
PMID: 29107100
4
TRIM49/NAALAD2 locus is associated with steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus patients
PMID: 34850884
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
skin cancerOpen Targets
0.07Suggestive
edemaOpen Targets
0.06Suggestive
idiopathic osteonecrosis of the femoral headOpen Targets
0.05Suggestive
systemic lupus erythematosusOpen Targets
0.05Suggestive
response to steroidOpen Targets
0.05Suggestive
obesityOpen Targets
0.04Suggestive
skin neoplasmOpen Targets
0.04Suggestive
retinitis pigmentosa 1Open Targets
0.04Suggestive
overnutritionOpen Targets
0.04Suggestive
Gait disturbanceOpen Targets
0.03Suggestive
actinic keratosisOpen Targets
0.03Suggestive
central nervous system malformationOpen Targets
0.03Suggestive
congenital nervous system disorderOpen Targets
0.03Suggestive
cutaneous melanomaOpen Targets
0.02Suggestive
facial painOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
gastric adenocarcinomaOpen Targets
0.01Suggestive
retinitis pigmentosaOpen Targets
0.01Suggestive
depressive disorderOpen Targets
0.01Suggestive
HIV-1 infectionOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RFPL4AL1Shared pathway100%TRIM43BShared pathway100%TRIM64CShared pathway100%TRIM64BShared pathway100%RFPL4BShared pathway100%TRIM49D1Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Lung
0%
Gene Interaction Network
Click a node to explore
TRIM49RFPL4AL1TRIM43BTRIM64CTRIM64BRFPL4BTRIM49D1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P0CI25
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.28Tolerant
Observed/Expected LoF0.42 [0.21–0.97]
RankingsWhere TRIM49 stands among ~20K protein-coding genes
  • #14,851of 20,598
    Most Researched18
  • #9,198of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedTRIM49
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
TRIM49 Deficiency Stabilizes a Galectin-3/EGR1 Transcriptional Complex That Drives Invasiveness of Gastric Adenocarcinoma.
PMID: 40997315
Cancer Res · 2026
1.00
2
Retinitis Pigmentosa-Associated Gene TRIM49 Regulates ULK1-Mediated Autophagy and Photoreceptor Phagocytosis by the Retinal Pigment Epithelium.
PMID: 40956390
Adv Sci (Weinh) · 2025
0.86
3
Expression, purification, and characterization of the TRIM49 protein.
PMID: 29107100
Protein Expr Purif · 2018
0.71
4
Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus.
PMID: 34850884
Hum Mol Genet · 2022
0.57
5
Overexpression of Tripartite Motif-Containing 48 (TRIM48) Inhibits Growth of Human Glioblastoma Cells by Suppressing Extracellular Signal Regulated Kinase 1/2 (ERK1/2) Pathway.
PMID: 31703057
Med Sci Monit · 2019
0.43