TRIM49D2

Chr 11

tripartite motif containing 49D2

Also known as: TRIM48L1, TRIM49L, TRIM49L1

NCBI Gene: 729384ENSG00000233802UniProt: C9J1S8

The protein is predicted to function as a ubiquitin protein ligase involved in innate immune response and gene regulation within the cytoplasm. No established Mendelian diseases have been linked to mutations in this gene based on current clinical evidence.

ResearchSummary from RefSeq
Multiplemechanism
Clinical Summary— TRIM49D2
📋
ClinVar Variants
17 unique Pathogenic / Likely Pathogenic· 8 VUS of 32 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

DN
0.81top 10%
GOF
0.80top 10%
LOF
0.1598th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

32 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic1
VUS8
Likely Benign6
Benign1
16
Pathogenic
1
Likely Pathogenic
8
VUS
6
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————16
Likely Pathogenic
————1
VUS
————8
Likely Benign
————6
Benign
————1
Total—32

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TRIM49D2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients