TDRKH

Summary

TDRKH (tudor and KH domain containing, HGNC:11713) is a protein-coding gene on chromosome 1q21.3, encoding Tudor and KH domain-containing protein (Q9Y2W6). Participates in the primary piRNA biogenesis pathway and is required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity.

Predicted to enable RNA binding activity. Predicted to be involved in several processes, including P granule organization; male meiotic nuclear division; and piRNA processing. Located in mitochondrion.

Source: NCBI Gene 11022 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 69 total — 1 pathogenic
• MANE Select transcript: NM_001083965

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11713
Approved symbol	TDRKH
Name	tudor and KH domain containing
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	TDRD2
Ensembl gene	ENSG00000182134
Ensembl biotype	protein_coding
OMIM	609501
Entrez	11022

Gene structure

Transcript identifiers

Ensembl transcripts: 40 — 33 protein_coding, 3 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000368822, ENST00000368823, ENST00000368824, ENST00000368825, ENST00000368827, ENST00000458431, ENST00000463553, ENST00000484421, ENST00000486986, ENST00000494725, ENST00000525790, ENST00000526378, ENST00000526413, ENST00000530202, ENST00000893126, ENST00000893129, ENST00000893130, ENST00000893133, ENST00000893135, ENST00000893137, ENST00000893139, ENST00000893141, ENST00000893143, ENST00000893145, ENST00000893147, ENST00000893149, ENST00000916227, ENST00000916228, ENST00000916229, ENST00000916230, ENST00000916231, ENST00000916232, ENST00000949952, ENST00000949953, ENST00000949954, ENST00000949955, ENST00000949956, ENST00000949957, ENST00000949958, ENST00000949959

RefSeq mRNA: 4 — MANE Select: NM_001083965 NM_001083963, NM_001083964, NM_001083965, NM_006862

CCDS: CCDS41394, CCDS41395

Canonical transcript exons

ENST00000368824 — 13 exons

Exon	Start	End
ENSE00001311108	151779951	151780140
ENSE00001865140	151773494	151774504
ENSE00003488074	151775392	151775543
ENSE00003489419	151781481	151781587
ENSE00003505769	151774710	151774806
ENSE00003577782	151776096	151776268
ENSE00003608336	151779103	151779242
ENSE00003613152	151776439	151776599
ENSE00003630709	151782899	151783049
ENSE00003658705	151775820	151775884
ENSE00003684550	151775065	151775166
ENSE00003729587	151778685	151779006
ENSE00003849863	151790380	151790500

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 89.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.0580 / max 86.1217, expressed in 1344 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14460	4.8570	1333
14459	0.2010	110

Top tissues by expression

277 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.83	gold quality
right testis	UBERON:0004534	88.40	gold quality
left testis	UBERON:0004533	87.97	gold quality
cerebellar hemisphere	UBERON:0002245	87.46	gold quality
cerebellar cortex	UBERON:0002129	87.37	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.34	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.23	gold quality
cortical plate	UBERON:0005343	86.80	gold quality
testis	UBERON:0000473	86.69	gold quality
cerebellum	UBERON:0002037	85.14	gold quality
prefrontal cortex	UBERON:0000451	83.21	gold quality
ganglionic eminence	UBERON:0004023	83.12	gold quality
secondary oocyte	CL:0000655	82.65	gold quality
right frontal lobe	UBERON:0002810	82.55	gold quality
ventricular zone	UBERON:0003053	82.27	gold quality
anterior cingulate cortex	UBERON:0009835	81.98	gold quality
cingulate cortex	UBERON:0003027	81.85	gold quality
islet of Langerhans	UBERON:0000006	80.84	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	80.83	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	79.29	gold quality
neocortex	UBERON:0001950	79.02	gold quality
Brodmann (1909) area 9	UBERON:0013540	78.85	gold quality
frontal cortex	UBERON:0001870	78.56	gold quality
gastrocnemius	UBERON:0001388	77.71	gold quality
muscle of leg	UBERON:0001383	77.67	gold quality
right lobe of thyroid gland	UBERON:0001119	77.46	gold quality
sural nerve	UBERON:0015488	77.29	gold quality
left lobe of thyroid gland	UBERON:0001120	77.20	gold quality
spinal cord	UBERON:0002240	77.12	gold quality
amygdala	UBERON:0001876	76.57	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7249	yes	11.12
E-ANND-3	yes	4.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

39 targeting TDRKH, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-6083	99.47	68.73	2393
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-4744	99.01	69.91	1581
HSA-MIR-1537-5P	98.70	68.33	999
HSA-MIR-6811-5P	97.98	64.96	848

Literature-anchored findings (GeneRIF, showing 4)

• Tudor domain proteins interact with arginine-glycine-rich motifs in a methylarginine-dependent manner. (PMID:15955813)
• Unlike most other Tudor domains TDRD2 preferentially recognizes an unmethylated arginine-rich sequence from PIWIL1. (PMID:29118143)
• TDRKH missense mutation segregates with dominant distal hereditary motor neuropathy in a four generation pedigree. (PMID:30503856)
• Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non-obstructive azoospermia in an Iranian family. (PMID:38956960)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tdrkh	ENSMUSG00000041912
rattus_norvegicus	Tdrkh	ENSRNOG00000020860

Paralogs (6): TDRD1 (ENSG00000095627), TDRD5 (ENSG00000162782), TDRD10 (ENSG00000163239), TDRD6 (ENSG00000180113), TDRD7 (ENSG00000196116), TDRD15 (ENSG00000218819)

Protein

Protein identifiers

Tudor and KH domain-containing protein — Q9Y2W6 (reviewed: Q9Y2W6)

Alternative names: Tudor domain-containing protein 2

All UniProt accessions (5): Q9Y2W6, B7ZAG4, E9PKN8, E9PQX4, Q5SZR4

UniProt curated annotations — full annotation on UniProt →

Function. Participates in the primary piRNA biogenesis pathway and is required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Required for the final steps of primary piRNA biogenesis by participating in the processing of 31-37 nt intermediates into mature piRNAs. May act in pi-bodies and piP-bodies by transferring piRNA precursors or intermediates to or between these granules.

Subunit / interactions. Interacts with (symmetrically methylated) PIWIL1, PIWIL2 and PIWIL4.

Subcellular location. Cytoplasm. Mitochondrion.

Post-translational modifications. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.

Similarity. Belongs to the Tdrkh family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2W6-2	1	yes
Q9Y2W6-3	2

RefSeq proteins (4): NP_001077432, NP_001077433, NP_001077434, NP_006853 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002999	Tudor	Domain
IPR004087	KH_dom	Domain
IPR004088	KH_dom_type_1	Domain
IPR035437	SNase_OB-fold_sf	Homologous_superfamily
IPR036612	KH_dom_type_1_sf	Homologous_superfamily
IPR047380	TDRD2-like_tudor	Domain
IPR047381	KH-I_TDRKH_rpt2	Domain
IPR047382	KH-I_TDRKH_rpt1	Domain
IPR050621	Tudor_domain_containing	Family

Pfam: PF00013, PF00567

UniProt features (45 total): cross-link 14, strand 13, helix 5, domain 3, turn 3, sequence conflict 2, chain 1, splice variant 1, sequence variant 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
3FDR	X-RAY DIFFRACTION	1.75
6B57	X-RAY DIFFRACTION	1.93
5J39	X-RAY DIFFRACTION	1.95
6PI7	X-RAY DIFFRACTION	2.8
2DIQ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2W6-F1	74.90	0.48

Antibody-complex structures (SAbDab): 1 — 6PI7

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (15): 152, 175, 181, 187, 193, 256, 267, 479, 510, 529, 278, 65, 76, 110, 112

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5601884	PIWI-interacting RNA (piRNA) biogenesis
R-HSA-211000	Gene Silencing by RNA
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 178 (showing top): GOBP_AXIS_SPECIFICATION, GOBP_EMBRYONIC_AXIS_SPECIFICATION, GCANCTGNY_MYOD_Q6, GOBP_OOGENESIS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_MALE_GAMETE_GENERATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_ORGANELLE_FISSION, GOBP_ANTERIOR_POSTERIOR_PATTERN_SPECIFICATION, GOBP_CELL_MATURATION, GOBP_EMBRYONIC_PATTERN_SPECIFICATION, GOBP_SEGMENTATION, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_OOCYTE_DIFFERENTIATION, GOBP_BLASTODERM_SEGMENTATION

GO Biological Process (7): male meiotic nuclear division (GO:0007140), spermatogenesis (GO:0007283), fertilization (GO:0009566), P granule organization (GO:0030719), piRNA processing (GO:0034587), cell differentiation (GO:0030154), regulatory ncRNA-mediated gene silencing (GO:0031047)

GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (6): mitochondrion (GO:0005739), P granule (GO:0043186), pi-body (GO:0071546), piP-body (GO:0071547), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Gene Silencing by RNA	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
male gamete generation	2
binding	2
P granule	2
cellular anatomical structure	2
meiotic cell cycle	1
meiotic nuclear division	1
developmental process involved in reproduction	1
sexual reproduction	1
reproductive process	1
organelle organization	1
pole plasm assembly	1
regulatory ncRNA processing	1
cellular developmental process	1
negative regulation of gene expression	1
nucleic acid binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
cytoplasmic ribonucleoprotein granule	1
germ plasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

836 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TDRKH	CLNS1A	P54105	957
TDRKH	PIWIL4	Q7Z3Z4	875
TDRKH	PIWIL1	Q96J94	867
TDRKH	PIWIL2	Q8TC59	793
TDRKH	PLD6	Q8N2A8	769
TDRKH	PNLDC1	Q8NA58	737
TDRKH	HENMT1	Q5T8I9	683
TDRKH	MOV10L1	Q9BXT6	670
TDRKH	SND1	Q7KZF4	655
TDRKH	TDRD12	Q587J7	648
TDRKH	ASZ1	Q8WWH4	623
TDRKH	STK31	Q9BXU1	602
TDRKH	MAEL	Q96JY0	593
TDRKH	GTSF1	Q8WW33	591
TDRKH	EXD1	Q8NHP7	578

IntAct

47 interactions, top by confidence:

A	B	Type	Score
ZBTB34	TDRKH	psi-mi:“MI:0915”(physical association)	0.670
IGF2BP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
ZFP90	TDRKH	psi-mi:“MI:0915”(physical association)	0.560
SNRNP25	TDRKH	psi-mi:“MI:0915”(physical association)	0.560
FAM25C	TDRKH	psi-mi:“MI:0915”(physical association)	0.560
LANCL2	TDRKH	psi-mi:“MI:0915”(physical association)	0.560
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PIWIL1	BAG2	psi-mi:“MI:0914”(association)	0.350
TDRKH	GGCT	psi-mi:“MI:0914”(association)	0.350
ATG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
PIWIL4	FCHO1	psi-mi:“MI:0914”(association)	0.350
TOP3B	PRMT5	psi-mi:“MI:0914”(association)	0.350
PIWIL1	PDE6B	psi-mi:“MI:0914”(association)	0.350
ARHGAP19	FHIT	psi-mi:“MI:0914”(association)	0.350
TDRKH	ESPL1	psi-mi:“MI:0914”(association)	0.350
MTCH1	IPO5	psi-mi:“MI:0914”(association)	0.350
MTCH2	IPO5	psi-mi:“MI:0914”(association)	0.350
FECH	GTPBP10	psi-mi:“MI:0914”(association)	0.350
PIWIL1	PJA2	psi-mi:“MI:0914”(association)	0.350
PIWIL4	MIA2	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
SLC12A1	ELOVL7	psi-mi:“MI:0914”(association)	0.350
SLC19A1	TAPBP	psi-mi:“MI:0914”(association)	0.350
SLC1A2	UBXN8	psi-mi:“MI:0914”(association)	0.350
SLC39A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SV2B	C15orf61	psi-mi:“MI:0914”(association)	0.350

BioGRID (102): TDRKH (Affinity Capture-MS), TDRKH (Affinity Capture-MS), TDRKH (Affinity Capture-MS), TDRKH (Proximity Label-MS), TDRKH (Proximity Label-MS), TDRKH (Proximity Label-MS), TDRKH (Proximity Label-MS), TDRKH (Proximity Label-MS), TDRKH (Proximity Label-MS), TDRKH (Proximity Label-MS), TDRKH (Two-hybrid), TDRKH (Two-hybrid), TDRKH (Two-hybrid), ZFP90 (Two-hybrid), FAM25A (Two-hybrid)

ESM2 similar proteins: A4FUF0, A4Q9F4, D2XV59, E1C1R4, O94888, O95267, P42694, P54198, P79987, Q15139, Q49A26, Q4R8V9, Q4SS66, Q562D5, Q5R372, Q5R5M3, Q5R7T2, Q5RDU9, Q5REY7, Q5RKH0, Q5RKN4, Q5T6S3, Q5ZIA0, Q5ZJ17, Q5ZLS2, Q5ZLS7, Q61666, Q62101, Q6DC64, Q6DFV5, Q6P5G6, Q6ZPY2, Q6ZWH5, Q70Z35, Q75Q39, Q80VL1, Q86W50, Q8BY87, Q8BYN5, Q8CIW5

Diamond homologs: A9CPT4, B4F7C4, D2H3M0, E1BPH3, E2QTD3, H9JD76, Q1XG89, Q24180, Q3TPE9, Q58EK5, Q5VCS6, Q7M6Z3, Q80VL1, Q8NAT2, Q8R5A0, Q8VZG7, Q99MV1, Q9BXT4, Q9FLT0, Q9Y2W6, A0JM98, A1L1H3, A6NAF9, A6QLE1, D2H0H6, E1C3S7, E2RDV1, E7FDW8, Q1L981, Q4R3G4, Q5M7P8, Q5RAH6, Q6NU04, Q8K1H1, Q8NHU6, Q9BXT8, Q9R1R4, F4KDN0, O19049, P61978

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

69 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	43
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1328954	NM_001083965.2(TDRKH):c.1003A>T (p.Lys335Ter)	Pathogenic

SpliceAI

2314 predictions. Top by Δscore:

Variant	Effect	Δscore
1:151770162:T:TA	acceptor_gain	1.0000
1:151770169:TAGTT:T	acceptor_loss	1.0000
1:151770170:A:AG	acceptor_gain	1.0000
1:151770170:AG:A	acceptor_loss	1.0000
1:151770170:AGTTT:A	acceptor_gain	1.0000
1:151770171:G:A	acceptor_loss	1.0000
1:151770171:G:GC	acceptor_gain	1.0000
1:151770171:GT:G	acceptor_gain	1.0000
1:151770171:GTT:G	acceptor_gain	1.0000
1:151770171:GTTT:G	acceptor_gain	1.0000
1:151770171:GTTTG:G	acceptor_gain	1.0000
1:151770253:CAGAG:C	donor_loss	1.0000
1:151770254:AGAG:A	donor_loss	1.0000
1:151770255:GAG:G	donor_gain	1.0000
1:151770255:GAGGT:G	donor_loss	1.0000
1:151770256:AGG:A	donor_loss	1.0000
1:151770257:GGTGG:G	donor_loss	1.0000
1:151770258:G:GA	donor_loss	1.0000
1:151770259:T:A	donor_loss	1.0000
1:151774502:CTT:C	acceptor_gain	1.0000
1:151774504:TC:T	acceptor_loss	1.0000
1:151774505:C:CC	acceptor_gain	1.0000
1:151774508:T:TC	acceptor_gain	1.0000
1:151775386:TCTTA:T	donor_loss	1.0000
1:151775387:CTTA:C	donor_loss	1.0000
1:151775388:TTACC:T	donor_loss	1.0000
1:151775389:TACC:T	donor_loss	1.0000
1:151775390:A:T	donor_loss	1.0000
1:151775391:C:CG	donor_loss	1.0000
1:151776091:CTGA:C	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000020886 (1:151782258 C>A), RS1000077895 (1:151771494 T>C,G), RS1000129915 (1:151771939 C>T), RS1000205346 (1:151785093 G>A), RS1000257055 (1:151792355 A>G), RS1000344377 (1:151778472 T>G), RS1000600202 (1:151785505 A>G), RS1000731765 (1:151787312 G>A), RS1001082749 (1:151773153 C>T), RS1001238498 (1:151772583 C>T), RS1001598206 (1:151786255 C>T), RS1001679728 (1:151771412 T>C,G), RS1001748100 (1:151770221 G>C), RS1001749585 (1:151776947 A>G), RS1002090772 (1:151792507 A>G,T)

Disease associations

OMIM: gene MIM:609501 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): azoospermia (MONDO:0100459), distal hereditary motor neuropathy (MONDO:0018894)

Orphanet (1): Distal hereditary motor neuropathy (Orphanet:53739)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST004787_27	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	4.000000e-08
GCST005194_125	Coronary artery disease	8.000000e-11
GCST005195_138	Coronary artery disease	3.000000e-11
GCST005196_188	Coronary artery disease	2.000000e-11
GCST007798_4	Asthma	2.000000e-10
GCST008916_130	Asthma	1.000000e-12
GCST008916_88	Asthma	1.000000e-25
GCST010479_52	Coronary artery disease	4.000000e-08
GCST011365_77	Myocardial infarction	1.000000e-09
GCST90002384_7	Hemoglobin	3.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D053713	Azoospermia	C12.100.500.430.380; C12.100.750.700.380; C12.200.294.430.380

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	3
trichostatin A	affects expression, decreases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Acetaminophen	increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
GSK-J4	decreases expression	1
afuresertib	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases methylation	1
nonanal	increases methylation	1
n-hexanal	increases methylation	1
butyraldehyde	increases methylation	1
perfluorooctanoic acid	increases expression	1
caprylic aldehyde	increases methylation	1
pentanal	increases methylation	1
heptanal	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
eprenetapopt	affects expression, affects reaction	1
Sunitinib	increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Calcitriol	increases expression	1
Ivermectin	decreases expression	1
Lead	affects methylation	1
Perfume	increases expression	1

Clinical trials (associated diseases)

27 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02307994	PHASE4	UNKNOWN	Clinical Research on Effectiveness and Safety of Treatment of Severe Oligospermia or Azoospermia With uFSH
NCT02275169	PHASE3	UNKNOWN	FSH Treatment for Non-obstructive Azoospermic Patients
NCT02544191	PHASE2	UNKNOWN	GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia
NCT03762967	PHASE2	UNKNOWN	Autologous Adipose-Derived Adult Stromal Vascular Cell Administration for Male Patients With Infertility
NCT02041910	PHASE1/PHASE2	UNKNOWN	Testicular Injection of Autologous Stem Cells for Treatment of Patients With Azoospermia
NCT00282477	Not specified	UNKNOWN	Trial to Evaluate Erectile Function, Fertility and Sperm Count in Male Cyclists Compared to Age Matched Controls
NCT00484081	Not specified	COMPLETED	Microdissection Testicular Sperm Extraction (MicroTESE) and IVF-ICSI Outcome in Non-Obstructive Azoospermia (NOA)
NCT00548977	Not specified	COMPLETED	Genetic Studies Spermatogenic Failure
NCT01375062	Not specified	COMPLETED	Obtaining Undifferentiated Cells From Testis Biopsy
NCT01509482	Not specified	COMPLETED	Insulin Resistance in Idiopathic Oligospermia and Azoospermia
NCT02008799	Not specified	UNKNOWN	Intra Testicular Artery Injection of Bone Marrow Stem Cell in Management of Azoospermia
NCT02339272	Not specified	COMPLETED	Study of Synapsis and Recombination in Male Meiosis and the Implications in Infertility
NCT02414295	Not specified	COMPLETED	Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection
NCT02418832	Not specified	RECRUITING	Testis Needle Aspiration of Sperm in Men With Azoospermia
NCT02617173	Not specified	UNKNOWN	The Effect of Low Electrical Current on Testicular Spermatocyte Count
NCT02773498	Not specified	TERMINATED	Comparison of Medical Results of Testicular Sperm Extraction by Conventional Surgery and Microsurgical Track
NCT03497728	Not specified	TERMINATED	Detection of Microdeletions in the Azoospermia Factor (AZF) Regions in Infertile Male Patients
NCT04675164	Not specified	COMPLETED	Laser Assisted Sperm Selection of Viable Immotile Testicular Sperm in Azoospermic Infertile Men
NCT05479474	Not specified	RECRUITING	Platelet Rich Plasma Testis Treatment for Infertile Men
NCT05628987	Not specified	RECRUITING	The Association of Gut Microbiota and Spermatogenic Dysfunction
NCT05866484	Not specified	COMPLETED	Testicular Sperm Aspiration (TESA) vs. Microfluidic Sperm Separation (MSS)
NCT06524258	Not specified	COMPLETED	Testicular Elastography for Microscopic Testicular Sperm Extraction
NCT06841328	Not specified	RECRUITING	Fertility Enhancement Through Regenerative Treatment in Ovaries and Testes
NCT06941922	Not specified	RECRUITING	Testicular Evaluation of Azoospermia Using Micro-Ultrasound
NCT07074015	Not specified	RECRUITING	IntelliWell: An AI-Assisted Imaging Platform for Detection and Location of Ultra-Rare Testicular Sperm in Surgical Specimens
NCT07357701	Not specified	RECRUITING	Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)
NCT07542626	Not specified	RECRUITING	Fertility Restoration With Autografting of Cryopreserved Immature Testicular Tissue