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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TDRD5
tudor domain containing 5
Chromosome 1 · 1q25.2
NCBI Gene: 163589Ensembl: ENSG00000162782.17HGNC: HGNC:20614UniProt: A0A024R910
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
spermatid developmentP granule organizationchromatoid bodypi-bodycellulitisabscessparaphilic disorderconnective tissue disease
✦AI Summary

TDRD5 (Tudor Domain Containing 5) is essential for male germline integrity, functioning as a critical component of the piRNA (PIWI-interacting RNA) pathway. 1 TDRD5 interacts with MIWI (PIWIL1) through Tudor domain binding to mediate piRNA amplification and transposon silencing, processes necessary for controlling retrotransposons during spermatogenesis. 2 The protein localizes to cytoplasmic granules including chr1 bodies and P granules, which are essential subcellular structures for piRNA biogenesis and post-meiotic gene regulation. 1 Mechanistically, TDRD5 participates in piRNA-mediated DNA methylation and subsequent repression of transposable elements. 3 It acts as a cofactor in piRNA-mediated transcript silencing and helicase effector function. Loss or dysfunction of TDRD5 impairs pachytene piRNA biogenesis and destabilizes chr1 body assembly. Clinically, deleterious TDRD5 variants cause severe male infertility. Homozygous missense (p.A1015T) and nonsense (p.E765*) mutations result in severe oligoasthenoteratozoospermia, with affected spermatozoa displaying multiple heads/flagella and acrosomal hypoplasia. 2 Reduced TDRD5 expression correlates with non-obstructive azoospermia subtypes including maturation arrest and Sertoli cell-only syndrome. 4 TDRD5 variants represent novel candidate genes for male infertility pathogenesis, with intracytoplasmic sperm injection showing therapeutic potential for affected patients.

Sources cited
1
TDRD5 interacts with MIWI N-terminal arginines to regulate piRNA amplification, transposon control, and chromatoid body compaction necessary for spermiogenesis
PMID: 38520410
2
Homozygous TDRD5 variants (missense p.A1015T and nonsense p.E765*) cause severe oligoasthenoteratozoospermia with structural sperm abnormalities through impaired piRNA biogenesis and chromatoid body dysfunction
PMID: 38847152
3
TDRD5 expression is significantly reduced in non-obstructive azoospermia subtypes (SCOS, maturation arrest, hypospermatogenesis) compared to controls
PMID: 32059713
4
TDRD5 (Tejas) is a LOTUS-domain protein with essential roles in spermatogenesis functioning as a helicase effector and cofactor of piRNA-mediated transcript silencing
PMID: 33544496
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
cellulitisOpen Targets
0.32Weak
abscessOpen Targets
0.31Weak
paraphilic disorderOpen Targets
0.31Weak
connective tissue diseaseOpen Targets
0.23Weak
mixed connective tissue diseaseOpen Targets
0.18Weak
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.08Suggestive
hypertensionOpen Targets
0.08Suggestive
spermatogenic failure 59Open Targets
0.08Suggestive
spermatogenic failure 60Open Targets
0.08Suggestive
spermatogenic failure 73Open Targets
0.08Suggestive
spermatogenic failure 74Open Targets
0.08Suggestive
spermatogenic failure 61Open Targets
0.08Suggestive
spermatogenic failure 62Open Targets
0.08Suggestive
spermatogenic failure 88Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
spermatogenic failure 26Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIWIL1Protein interaction90%TDRD9Protein interaction90%PIWIL4Protein interaction90%MARF1Protein interaction75%PIWIL2Protein interaction72%TDRD12Protein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
2%
Ovary
1%
Lung
1%
Liver
0%
Heart
0%
Gene Interaction Network
Click a node to explore
TDRD5PIWIL1TDRD9PIWIL4MARF1PIWIL2TDRD12
PROTEIN STRUCTURE
Preparing viewer…
PDB3S93 · 2.28 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.32 [0.24–0.41]
RankingsWhere TDRD5 stands among ~20K protein-coding genes
  • #14,834of 20,598
    Most Researched18
  • #2,147of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedTDRD5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MIWI N-terminal arginines orchestrate generation of functional pachytene piRNAs and spermiogenesis.
PMID: 38520410
Nucleic Acids Res · 2024
1.00
2
Homozygous deleterious variants in the C-terminal of TDRD5 impair spermiogenesis, causing severe oligoasthenoteratozoospermia in humans.
PMID: 38847152
Andrology · 2025
0.90
3
Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia.
PMID: 32059713
BMC Med Genet · 2020
0.80
4
Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood
PMID: 37469802
Hemasphere · 2023
0.70
5
Investigation of piwi-interacting RNA pathway genes role in idiopathic non-obstructive azoospermia.
PMID: 29317647
Sci Rep · 2018
0.60