TRIM49D2

Chr 11

tripartite motif containing 49D2

Also known as: TRIM48L1, TRIM49L, TRIM49L1

NCBI Gene: 729384 ENSG00000233802 UniProt: 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

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response and regulation of gene expression. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TRIM49D2?

gnomAD v4 · ~53k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 18,000

1 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TRIM49D2; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 1 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~35k	none seen	≈ 1 in 12,000

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 0 of 6 coding exons well covered in gnomAD exomes; exons 2, 3, 4, 5, 6, 7 poorly covered. Genomes: 0 of 6 (exons 2, 3, 4, 5, 6, 7 below).? see exons ↓