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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TDRD7
tudor domain containing 7
Chromosome 9 Β· 9q22.33
NCBI Gene: 23424Ensembl: ENSG00000196116.9HGNC: HGNC:30831UniProt: Q8NHU6
36PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mRNA bindingprotein bindinglens morphogenesis in camera-type eyepost-transcriptional regulation of gene expressionearly-onset non-syndromic cataractDevelopmental cataractpericarditisgastric cancer
✦AI Summary

TDRD7 (Tudor domain containing 7) is an RNA-binding protein component of cytoplasmic RNA granules that regulates post-transcriptional gene expression, particularly in lens and testicular development 1. The protein functions by binding specific mRNAs and modulating their translation, including critical lens proteins like CRYBB3 and HSPB1 [UniProt]. Mechanistically, TDRD7 mediates autophagosome maturation by directly binding to and downregulating Tbc1d20 mRNA, facilitating clearance of damaged proteins and organelles essential for lens transparency and acrosome biogenesis during spermiogenesis 1. Beyond developmental roles, TDRD7 serves as an interferon-stimulated viral restriction factor against herpes simplex virus by inhibiting AMPK, independent of autophagy pathways 2. Loss-of-function TDRD7 mutations cause an autosomal recessive syndrome combining congenital cataracts and nonobstructive azoospermia 3, with plasma TDRD7 mRNA levels significantly reduced in cataract patients compared to controls 4. Additionally, TDRD7 participates in piRNA processing and chr9 body organization during spermatogenesis 5, and elevated TDRD7 expression correlates with poor prognosis in clear cell renal cell carcinoma 6. Common TDRD7 polymorphisms (rs10981985) associate with protection against age-related cortical cataracts in Han Chinese populations 7.

Sources cited
1
TDRD7 mediates autophagosome maturation by binding Tbc1d20 mRNA; tdrd7 deletion causes congenital cataracts and spermiogenesis defects through disrupted autophagic flux
PMID: 33618632
2
TDRD7 is an interferon-stimulated viral restriction factor that inhibits AMPK to block HSV-1 replication independently of autophagy
PMID: 32273341
3
Loss-of-function TDRD7 mutations cause familial nonobstructive azoospermia and congenital cataracts with autosomal recessive inheritance
PMID: 31048812
4
Plasma TDRD7 mRNA expression is significantly lower in cataract patients than controls, with variation by cataract subtype
PMID: 25120344
5
TDRD7 assembles in chromatoid bodies and interacts with other piRNA pathway proteins; disruption affects spermatogenesis
PMID: 39331689
6
TDRD7 is overexpressed in clear cell renal cell carcinoma and correlates with poor prognosis and immune cell infiltration
PMID: 35273654
7
TDRD7 rs10981985 G→A polymorphism protects against cortical age-related cataracts in Han Chinese population
PMID: 24435515
8
TDRD7 is identified as a brain protein associated with age-related macular degeneration through proteome-wide association analysis
PMID: 39408566
Disease Associationsβ“˜21
early-onset non-syndromic cataractOpen Targets
0.71Strong
Developmental cataractOpen Targets
0.40Weak
pericarditisOpen Targets
0.32Weak
gastric cancerOpen Targets
0.31Weak
genetic disorderOpen Targets
0.19Weak
breast cancerOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
Total congenital cataractOpen Targets
0.09Suggestive
Cataract-microcornea syndromeOpen Targets
0.09Suggestive
Partial congenital cataractOpen Targets
0.09Suggestive
early-onset nuclear cataractOpen Targets
0.08Suggestive
early-onset zonular cataractOpen Targets
0.08Suggestive
isolated ectopia lentisOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.08Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.08Suggestive
pulverulent cataractOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
Posterior polar cataractOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
Cataract 36UniProt
Pathogenic Variants9
NM_014290.3(TDRD7):c.2823del (p.Met942fs)Pathogenic
Cataract 36
β˜…β˜†β˜†β˜†2025β†’ Residue 942
NM_014290.3(TDRD7):c.2660del (p.Lys887fs)Pathogenic
Cataract 36
β˜…β˜†β˜†β˜†2023β†’ Residue 887
NM_014290.3(TDRD7):c.855G>A (p.Thr285=)Likely pathogenic
Cataract 36
β˜…β˜†β˜†β˜†2019β†’ Residue 285
NM_014290.3(TDRD7):c.2008C>T (p.Gln670Ter)Pathogenic
Cataract 36
β˜…β˜†β˜†β˜†β†’ Residue 670
NM_014290.3(TDRD7):c.2539G>A (p.Asp847Asn)Likely pathogenic
Cataract 36
β˜†β˜†β˜†β˜†2019β†’ Residue 847
NM_014290.3(TDRD7):c.1129del (p.Ala377fs)Pathogenic
Cataract 36
β˜†β˜†β˜†β˜†2017β†’ Residue 377
NM_014290.3(TDRD7):c.328dup (p.Thr110fs)Pathogenic
Cataract 36
β˜†β˜†β˜†β˜†2017β†’ Residue 110
NM_014290.3(TDRD7):c.689dup (p.Tyr230Ter)Pathogenic
Cataract 36
β˜†β˜†β˜†β˜†2017β†’ Residue 230
NM_014290.3(TDRD7):c.1849GTT[1] (p.Val618del)Pathogenic
Cataract 36
β˜†β˜†β˜†β˜†2011β†’ Residue 618
View on ClinVar β†—
Related Genes
CDK17Protein interaction90%CDK18Protein interaction90%CABLES1Protein interaction90%GABPB1Protein interaction83%CCDC180Protein interaction83%DND1Protein interaction79%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
76%
Lung
65%
Heart
64%
Ovary
49%
Liver
43%
Gene Interaction Network
Click a node to explore
TDRD7CDK17CDK18CABLES1GABPB1CCDC180DND1
PROTEIN STRUCTURE
Preparing viewer…
PDB3RCO Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.52Moderately Constrained
pLIβ“˜
0.37Tolerant
Observed/Expected LoF0.41 [0.32–0.52]
RankingsWhere TDRD7 stands among ~20K protein-coding genes
  • #10,876of 20,598
    Most Researched36
  • #2,979of 5,498
    Most Pathogenic Variants9
  • #3,226of 17,882
    Most Constrained (LOEUF)0.52 Β· top quartile
Genes detectedTDRD7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The interferon-inducible protein TDRD7 inhibits AMP-activated protein kinase and thereby restricts autophagy-independent virus replication.
PMID: 32273341
J Biol Chem Β· 2020
1.00
2
TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation.
PMID: 33618632
Autophagy Β· 2021
0.90
3
RNA granule component TDRD7 gene polymorphisms in a Han Chinese population with age-related cataract.
PMID: 24435515
J Int Med Res Β· 2014
0.80
4
Loss-of-function variant in TDRD6 cause male infertility with severe oligo-astheno-teratozoospermia in human and mice.
PMID: 39331689
J Cell Mol Med Β· 2024
0.70
5
Pinpointing Novel Plasma and Brain Proteins for Common Ocular Diseases: A Comprehensive Cross-Omics Integration Analysis.
PMID: 39408566
Int J Mol Sci Β· 2024
0.60