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GeneE
6 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TDRD12
tudor domain containing 12
Chromosome 19 Β· 19q13.11
NCBI Gene: 91646Ensembl: ENSG00000173809.18HGNC: HGNC:25044UniProt: A0A1W2PRK2
10PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
piRNA processinggerm-line stem cell divisiontransposable element silencing by piRNA-mediated DNA methylationPET complexmale infertilityneurodegenerative diseasegoutexostosis
✦AI Summary

TDRD12 (tudor domain containing 12) is an ATP-binding RNA helicase essential for male fertility and germline integrity. Functionally, TDRD12 operates within the piRNA (PIWI-interacting RNA) metabolic pathway to silence transposable elements during spermatogenesis 1. The protein acts via the PET complex to facilitate secondary piRNA biogenesis and promote PIWIL-mediated transposon repression through DNA methylation 2. TDRD12 expression is developmentally regulated, showing particularly high levels during spermatogenesis stages 2. Clinically, TDRD12 mutations cause distinct male infertility phenotypes depending on which protein domain is affected 1. A frameshift mutation (c.3378dupG) lacking the cysteine-rich domain resulted in teratozoospermia with abnormal sperm morphology and reduced PIWIL1 expression, while a nonsense mutation (c.2463C>G) causing complete protein loss led to azoospermia with germ cell maturation arrest and elevated LINE-1 transposon activation 1. TDRD12 expression is significantly reduced in testicular samples from men with various azoospermia types, particularly in hypospermatogenesis 2. Beyond reproductive function, TDRD12 was identified as a candidate hypomethylated gene in salivary gland adenoid cystic carcinoma 3. These findings establish TDRD12's critical role in transposon silencing and spermatogenesis.

Sources cited
1
TDRD12 mutations cause distinct male infertility phenotypes; loss of cysteine-rich domain causes teratozoospermia with abnormal sperm morphology, while complete protein loss causes azoospermia with germ cell maturation arrest and increased LINE-1 transposon activation
PMID: 40750267
2
TDRD12 plays critical roles in piRNA biogenesis and germ cell development; expression is significantly reduced in testicular samples from men with hypospermatogenesis and other azoospermia types
PMID: 32059713
3
TDRD12 was identified as a hypomethylated candidate gene in adenoid cystic carcinoma screening
PMID: 21551254
4
TDRD12 was identified as a gene with statin-induced differential gene expression variation associated with genetic variants
PMID: 32787775
5
TDRD12 was identified as a candidate gene associated with early reproductive traits in cattle through meta-analysis of fertility pathways
PMID: 34069992
Disease Associationsβ“˜20
male infertilityOpen Targets
0.40Weak
neurodegenerative diseaseOpen Targets
0.32Weak
goutOpen Targets
0.30Weak
exostosisOpen Targets
0.27Weak
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
isochromosomy YpOpen Targets
0.08Suggestive
spermatogenic failure 63Open Targets
0.08Suggestive
spinocerebellar ataxia type 32Open Targets
0.07Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
Pathogenic Variants4
NM_001366102.1(TDRD12):c.963+1G>TLikely pathogenic
Male infertility
β˜…β˜†β˜†β˜†2023
NM_001366102.1(TDRD12):c.986G>A (p.Trp329Ter)Likely pathogenic
Male infertility
β˜…β˜†β˜†β˜†2023β†’ Residue 329
NM_001366102.1(TDRD12):c.2419C>T (p.Arg807Cys)Likely pathogenic
Male infertility
β˜…β˜†β˜†β˜†2023β†’ Residue 807
NM_001366102.1(TDRD12):c.3157del (p.Leu1053fs)Likely pathogenic
Male infertility
β˜…β˜†β˜†β˜†2023β†’ Residue 1053
View on ClinVar β†—
Related Genes
ASZ1Protein interaction92%TDRD9Protein interaction87%TDRKHProtein interaction84%MAELProtein interaction80%TDRD1Protein interaction75%PIWIL4Protein interaction74%
Tissue Expression6 tissues
Ovary
100%
Brain
20%
Heart
18%
Bone Marrow
17%
Liver
10%
Lung
9%
Gene Interaction Network
Click a node to explore
TDRD12ASZ1TDRD9TDRKHMAELTDRD1PIWIL4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q587J7
View on AlphaFold β†—
RankingsWhere TDRD12 stands among ~20K protein-coding genes
  • #17,189of 20,598
    Most Researched10
  • #3,878of 5,498
    Most Pathogenic Variants4
Genes detectedTDRD12
Sources retrieved6 papers
Response timeβ€”
πŸ“„ Sources
6β–Ό
1
Pathogenic TDRD12 variants cause defective piRNA pathway and male infertility in humans and mice.
PMID: 38960314
J Genet Genomics Β· 2024
1.00
2
Genetic variants modulate gene expression statin response in human lymphoblastoid cell lines.
PMID: 32787775
BMC Genomics Β· 2020
0.83
3
Meta-Analysis of Heifer Traits Identified Reproductive Pathways in
PMID: 34069992
Genes (Basel) Β· 2021
0.67
4
Loss of Different Domains of TDRD12 Leads to Distinct Male Infertility-Related Phenotypes.
PMID: 40750267
Clin Genet Β· 2026
0.50
5
Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia.
PMID: 32059713
BMC Med Genet Β· 2020
0.33