TDRD7

Chr 9AR

tudor domain containing 7

Also known as: CATC4, PCTAIRE2BP, TRAP

NCBI Gene: 23424ENSG00000196116UniProt: Q8NHU6OMIM: 611258

The protein is a component of cytoplasmic RNA granules that regulates translation of specific mRNAs, including CRYBB3 and HSPB1, which are required for lens transparency during development. Mutations cause autosomal recessive cataract 36 through disrupted post-transcriptional regulation of genes essential for normal lens development. The low pLI score (0.0006) indicates tolerance to loss-of-function variants, consistent with the recessive inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.481 OMIM phenotype
Clinical Summary— TDRD7
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.48LOEUF
pLI 0.001
Z-score 4.41
OE 0.31 (0.21–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.99Z-score
OE missense 0.88 (0.82–0.95)
503 obs / 569.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.31 (0.21–0.48)
0≤0.351.4
Missense OE0.88 (0.82–0.95)
0≤0.61.4
Synonymous OE0.98
0≤1.21.6
LoF obs/exp: 15 / 47.9Missense obs/exp: 503 / 569.4Syn Z: 0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TDRD7 · 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
Pinpointing Novel Plasma and Brain Proteins for Common Ocular Diseases: A Comprehensive Cross-Omics Integration Analysis.
Mo Q et al.·Int J Mol Sci
2024
Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.
Tan YQ et al.·Genet Med
2019
Pharmacological targets and mechanism of baicalein in treating breast cancer: a study based on network pharmacology, molecular docking, and bioinformatics analysis.
Li J et al.·Naunyn Schmiedebergs Arch Pharmacol
2026Functional
Distinct gene expression profiles underlie morphological and etiological differences in pediatric cataracts.
Shanbagh S et al.·Indian J Ophthalmol
2023
Crosstalk between signaling pathways (Rho/ROCK, TGF-β and Wnt/β-Catenin Pathways/ PI3K-AKT-mTOR) in Cataract: A Mechanistic Exploration and therapeutic strategy.
Khan M et al.·Gene
2025Review
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Interferon-stimulated gene TDRD7 interacts with AMPK and inhibits its activation to suppress viral replication and pathogenesis.
Chakravarty S et al.·mBio
2023Open Access
Early germline differentiation in bivalves: TDRD7 as a candidate investigational unit for Ruditapes philippinarum germ granule assembly.
Filanti B et al.·Histochem Cell Biol
2021Open Access
TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation.
Tu C et al.·Autophagy
2021
Germ cell differentiation requires Tdrd7-dependent chromatin and transcriptome reprogramming marked by germ plasm relocalization.
D'Orazio FM et al.·Dev Cell
2021Open Access
Genome-Wide Analysis of Differentially Expressed miRNAs and Their Associated Regulatory Networks in Lenses Deficient for the Congenital Cataract-Linked Tudor Domain Containing Protein TDRD7.
Anand D et al.·Front Cell Dev Biol
2021Open Access
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