TDRD7

Chr 9AR

tudor domain containing 7

Also known as: CATC4, PCTAIRE2BP, TRAP

NCBI Gene: 23424ENSG00000196116UniProt: Q8NHU6

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.

Summary from RefSeq, OMIM, UniProt

Primary Disease Associations & Inheritance

Cataract 36MIM #613887
AR
0
Active trials
6
Pubs (1 yr)
42
P/LP submissions
2%
P/LP missense
0.48
LOEUF
LOF
Mechanism· G2P
Clinical Summary— TDRD7
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.31) despite low pLI — interpret in context.
📋
ClinVar Variants
42 unique Pathogenic / Likely Pathogenic· 195 VUS of 343 total submissions

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

343 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic6
VUS195
Likely Benign45
Benign30
Conflicting13
36
Pathogenic
6
Likely Pathogenic
195
VUS
45
Likely Benign
30
Benign
13
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
4
0
32
0
36
Likely Pathogenic
0
1
4
1
6
VUS
0
169
18
8
195
Likely Benign
0
9
21
15
45
Benign
0
2
24
4
30
Conflicting
—13
Total41819928325

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

View in 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.

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 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