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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TDRKH
tudor and KH domain containing
Chromosome 1 · 1q21.3
NCBI Gene: 11022Ensembl: ENSG00000182134.18HGNC: HGNC:11713UniProt: B4DJ68
36PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingpiP-bodymale meiotic nuclear divisioncoronary artery diseaseazoospermiaattention deficit hyperactivity disordersubstance abuse
✦AI Summary

TDRKH (tudor and KH domain containing) is an RNA-binding protein with critical roles in germline development and piRNA biogenesis. The protein contains one tudor domain and two KH domains that mediate RNA or single-strand DNA binding 1. TDRKH participates in primary piRNA processing, catalyzing the conversion of 31-37 nucleotide intermediates into mature piRNAs through its localization to pi-bodies and piP-bodies 2. This function is essential for repressing transposable elements during spermatogenesis and meiosis, thereby maintaining germline integrity 3. TDRKH mutations cause non-obstructive azoospermia (NOA) in humans. Biallelic TDRKH variants were identified in NOA patients with error-prone meiosis and spermatogenic arrest, demonstrating that defects in piRNA-processing genes universally result in unsuccessful sperm retrieval 3. Reduced TDRKH expression accompanies PNLDC1 mutations, indicating coordinate dysfunction in the piRNA processing pathway impairs male fertility 2. Beyond reproductive function, TDRKH has been implicated in hereditary motor neuropathy pathogenesis 4 and identified as a putatively causal protein in asthma risk through genetic proteomics analysis 5. Additionally, TDRKH-AS1, an antisense lncRNA, promotes breast cancer progression and preeclampsia pathology through distinct molecular mechanisms 6, 7.

Sources cited
1
TDRKH encodes a 561 amino acid protein with one tudor domain and two KH domains involved in RNA/DNA binding; widely expressed in human tissues with alternative splicing and polyadenylation
PMID: 10767542
2
TDRKH mutations identified as causal defect in NOA patients; all individuals with meiotic gene defects had unsuccessful sperm retrieval
PMID: 35172124
3
TDRKH is a piRNA-processing protein whose expression is greatly diminished in PNLDC1 mutation carriers; reduced TDRKH contributes to error-prone meiosis and spermatogenic arrest
PMID: 34347949
4
TDRKH identified as novel gene involved in hereditary motor neuropathy pathogenesis through whole exome/genome sequencing
PMID: 32796276
5
TDRKH identified as protein with putative causal role in asthma risk through genetic causal inference in biobank-scale genetics and proteomics analysis
PMID: 40187354
6
TDRKH-AS1 lncRNA elevated in preeclampsia; sEV-transported TDRKH-AS1 triggers endothelial pyroptosis through PDIA4/DDIT4 axis
PMID: 37488572
7
TDRKH-AS1 upregulated in breast cancer tissues; functions as oncogenic lncRNA promoting BC progression via miR-134-5p/CREB1 axis
PMID: 38008726
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.36Weak
azoospermiaOpen Targets
0.35Weak
attention deficit hyperactivity disorderOpen Targets
0.30Weak
substance abuseOpen Targets
0.30Weak
myocardial infarctionOpen Targets
0.30Weak
Crohn's diseaseOpen Targets
0.28Weak
distal hereditary motor neuropathyOpen Targets
0.26Weak
atopic eczemaOpen Targets
0.12Weak
ulcerative colitisOpen Targets
0.12Weak
smoking initiationOpen Targets
0.09Suggestive
insomniaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.05Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.05Suggestive
spermatogenic failure 25Open Targets
0.05Suggestive
spermatogenic failure 57Open Targets
0.05Suggestive
spermatogenic failure 50Open Targets
0.05Suggestive
Pathogenic Variants1
NM_001083965.2(TDRKH):c.1003A>T (p.Lys335Ter)Pathogenic
Azoospermia
☆☆☆☆2021→ Residue 335
View on ClinVar ↗
Related Genes
PIWIL2Protein interaction100%PIWIL1Protein interaction99%CLNS1AProtein interaction96%MOV10L1Protein interaction90%HENMT1Protein interaction89%PIWIL4Protein interaction85%
Tissue Expression6 tissues
Brain
100%
Heart
39%
Liver
24%
Bone Marrow
23%
Lung
23%
Ovary
9%
Gene Interaction Network
Click a node to explore
TDRKHPIWIL2PIWIL1CLNS1AMOV10L1HENMT1PIWIL4
PROTEIN STRUCTURE
Preparing viewer…
PDB3FDR · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.60LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.44 [0.32–0.60]
RankingsWhere TDRKH stands among ~20K protein-coding genes
  • #10,877of 20,598
    Most Researched36
  • #5,207of 5,498
    Most Pathogenic Variants1
  • #4,130of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedTDRKH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.
PMID: 35172124
Am J Hum Genet · 2022
1.00
2
Hereditary motor neuropathies.
PMID: 32796276
Curr Opin Neurol · 2020
0.90
3
Small extracellular vesicles-transported lncRNA TDRKH-AS1 derived from AOPPs-treated trophoblasts initiates endothelial cells pyroptosis through PDIA4/DDIT4 axis in preeclampsia.
PMID: 37488572
J Transl Med · 2023
0.80
4
Variant
PMID: 34347949
N Engl J Med · 2021
0.70
5
Integration of biobank-scale genetics and plasma proteomics reveals evidence for causal processes in asthma risk and heterogeneity.
PMID: 40187354
Cell Genom · 2025
0.60