HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TDRD9
tudor domain containing 9
Chromosome 14 Β· 14q32.33
NCBI Gene: 122402Ensembl: ENSG00000156414.21HGNC: HGNC:20122UniProt: Q86WA0
20PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
spermatogenesiscytoplasmnucleusRNA bindingazoospermiamale infertility with azoospermia or oligozoospermia due to single gene mutationmale infertilitymajor depressive disorder
✦AI Summary

TDRD9 (tudor domain containing 9) is an ATP-binding RNA helicase that plays a critical role in spermatogenesis and male fertility 1. The protein functions as a nuclear effector in the piRNA (PIWI-interacting RNA) metabolic pathway, which is essential for transposable element silencing and germline integrity 2. TDRD9 works downstream of piRNA biogenesis to mediate transposon repression through DNA methylation and heterochromatin formation, acting together with PIWIL4 in the nucleus 1. Loss-of-function mutations in TDRD9 cause severe male infertility phenotypes including non-obstructive azoospermia, oligozoospermia, and globozoospermia 345. Patients with TDRD9 mutations exhibit spermatogenic failure characterized by incomplete arrest of spermatogenesis and partial meiotic defects 5. The protein shows stage-specific expression during spermatogenesis, with significantly reduced expression observed in testicular samples from men with various forms of azoospermia compared to controls 1. Clinically, TDRD9 mutations represent a genetic cause of Spermatogenic failure 30, and genetic testing can help predict unsuccessful sperm retrieval outcomes, potentially avoiding unnecessary surgical procedures 6.

Sources cited
1
TDRD9 is an ATP-binding RNA helicase critical for spermatogenesis and shows reduced expression in azoospermia
PMID: 32059713
2
TDRD9 functions in the piRNA pathway for transposable element silencing
PMID: 25842823
3
TDRD9 mutations cause globozoospermia
PMID: 39417902
4
TDRD9 compound heterozygous mutations cause oligozoospermia
PMID: 39174853
5
TDRD9 variants lead to non-obstructive azoospermia with spermatogenic arrest
PMID: 40645105
6
TDRD9 genetic diagnosis can predict unsuccessful sperm retrieval
PMID: 35172124
Disease Associationsβ“˜21
azoospermiaOpen Targets
0.60Moderate
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.38Weak
male infertilityOpen Targets
0.36Weak
major depressive disorderOpen Targets
0.27Weak
deficiency anemiaOpen Targets
0.25Weak
substance-related disorderOpen Targets
0.12Weak
adolescent idiopathic scoliosisOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
spermatogenic failure 63Open Targets
0.06Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.06Suggestive
arthritisOpen Targets
0.06Suggestive
spermatogenic failure 12Open Targets
0.06Suggestive
Spermatogenic failure 30UniProt
Pathogenic Variants10
NM_153046.3(TDRD9):c.2031_2032del (p.Glu679fs)Likely pathogenic
Spermatogenic failure 30
β˜…β˜†β˜†β˜†2023β†’ Residue 679
NM_153046.3(TDRD9):c.2314_2317del (p.Pro772fs)Likely pathogenic
Spermatogenic failure 30
β˜…β˜†β˜†β˜†2023β†’ Residue 772
NM_153046.3(TDRD9):c.3148dup (p.Val1050fs)Likely pathogenic
Male infertility
β˜…β˜†β˜†β˜†2023β†’ Residue 1050
NM_153046.3(TDRD9):c.3716+3A>GLikely pathogenic
Male infertility
β˜…β˜†β˜†β˜†2023
NM_153046.3(TDRD9):c.1518C>G (p.Tyr506Ter)Likely pathogenic
Spermatogenic failure 30
β˜…β˜†β˜†β˜†2022β†’ Residue 506
NM_153046.3(TDRD9):c.2772_2773del (p.Glu924fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 924
NM_153046.3(TDRD9):c.775C>T (p.Arg259Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 259
NM_153046.3(TDRD9):c.3604del (p.Ser1202fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1202
NM_153046.3(TDRD9):c.720_723del (p.Ser241fs)Pathogenic
Spermatogenic failure 30|Azoospermia
β˜†β˜†β˜†β˜†2025β†’ Residue 241
NM_153046.3(TDRD9):c.3483_3484dup (p.Ser1162fs)Pathogenic
Azoospermia
β˜†β˜†β˜†β˜†2021β†’ Residue 1162
View on ClinVar β†—
Related Genes
TDRD6Protein interaction99%PIWIL1Protein interaction93%STK31Protein interaction93%ASZ1Protein interaction92%TDRD5Protein interaction90%TDRD12Protein interaction87%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
24%
Brain
20%
Heart
20%
Liver
8%
Ovary
5%
Gene Interaction Network
Click a node to explore
TDRD9TDRD6PIWIL1STK31ASZ1TDRD5TDRD12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86WA0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.63–0.89]
RankingsWhere TDRD9 stands among ~20K protein-coding genes
  • #14,287of 20,598
    Most Researched20
  • #2,898of 5,498
    Most Pathogenic Variants10
  • #8,025of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedTDRD9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet Β· 2024
1.00
2
Whole exome sequencing analysis of 167 men with primary infertility.
PMID: 39267058
BMC Med Genomics Β· 2024
0.90
3
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.
PMID: 35172124
Am J Hum Genet Β· 2022
0.80
4
Novel homozygous variants in piRNA pathway factors lead to male infertility in humans.
PMID: 40645105
Reprod Biomed Online Β· 2025
0.70
5
A Novel Compound Heterozygous Mutation in TDRD9 Causes Oligozoospermia.
PMID: 39174853
Reprod Sci Β· 2024
0.60