TDRD3

Chr 13

tudor domain containing 3

NCBI Gene: 81550ENSG00000083544UniProt: Q9H7E2OMIM: 614392

TDRD3 encodes a scaffolding protein that binds dimethylated arginine-containing proteins and functions as a transcriptional coactivator in the nucleus and an antiviral factor in stress granule assembly in the cytoplasm. This gene is highly constrained against loss-of-function variants (pLI near 1, LOEUF 0.624), but associated diseases from mutations have not been well-characterized in the clinical literature. Additional phenotypic data is needed to define the clinical spectrum of TDRD3-related disorders.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 0.62
Clinical Summary— TDRD3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
63 unique Pathogenic / Likely Pathogenic· 101 VUS of 180 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.62LOEUF
pLI 0.000
Z-score 3.41
OE 0.41 (0.28–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.43Z-score
OE missense 0.79 (0.72–0.87)
306 obs / 385.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.41 (0.28–0.62)
0≤0.351.4
Missense OE0.79 (0.72–0.87)
0≤0.61.4
Synonymous OE0.92
0≤1.21.6
LoF obs/exp: 16 / 38.9Missense obs/exp: 306 / 385.1Syn Z: 0.75
DN
0.6454th %ile
GOF
0.3887th %ile
LOF
0.53top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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

180 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic62
Likely Pathogenic1
VUS101
Likely Benign2
62
Pathogenic
1
Likely Pathogenic
101
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
62
0
62
Likely Pathogenic
0
0
1
0
1
VUS
0
88
13
0
101
Likely Benign
0
1
1
0
2
Benign
0
0
0
0
0
Total089770166

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TDRD3 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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