TDRD12
gene geneOn this page
Also known as ECAT8FLJ13072
Summary
TDRD12 (tudor domain containing 12, HGNC:25044) is a protein-coding gene on chromosome 19q13.11, encoding Putative ATP-dependent RNA helicase TDRD12 (Q587J7). Probable ATP-binding RNA helicase required during spermatogenesis to repress transposable elements and preventing their mobilization, which is essential for the germline integrity.
Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and RNA helicase activity. Predicted to be involved in several processes, including germ-line stem cell division; male meiotic nuclear division; and regulatory ncRNA-mediated gene silencing. Predicted to be part of PET complex.
Source: NCBI Gene 91646 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 72 total — 4 likely-pathogenic
- MANE Select transcript:
NM_001366102
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25044 |
| Approved symbol | TDRD12 |
| Name | tudor domain containing 12 |
| Location | 19q13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ECAT8, FLJ13072 |
| Ensembl gene | ENSG00000173809 |
| Ensembl biotype | protein_coding |
| Entrez | 91646 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 nonsense_mediated_decay
ENST00000421545, ENST00000444215, ENST00000564769, ENST00000637289, ENST00000639142, ENST00000647536
RefSeq mRNA: 2 — MANE Select: NM_001366102
NM_001110822, NM_001366102
CCDS: CCDS46038, CCDS92580
Canonical transcript exons
ENST00000639142 — 33 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001185345 | 32777149 | 32777229 |
| ENSE00001185348 | 32773456 | 32773532 |
| ENSE00001185356 | 32749784 | 32749869 |
| ENSE00001185359 | 32748476 | 32748531 |
| ENSE00001185364 | 32738856 | 32738992 |
| ENSE00001291601 | 32772753 | 32772850 |
| ENSE00001294133 | 32742781 | 32742900 |
| ENSE00001309804 | 32755992 | 32756181 |
| ENSE00001480488 | 32757038 | 32757130 |
| ENSE00001644138 | 32815448 | 32815620 |
| ENSE00001686111 | 32818089 | 32818157 |
| ENSE00002202887 | 32794628 | 32794813 |
| ENSE00002208338 | 32790531 | 32790591 |
| ENSE00002208380 | 32813684 | 32813776 |
| ENSE00002208837 | 32798308 | 32798435 |
| ENSE00002212176 | 32790964 | 32791068 |
| ENSE00002222082 | 32800167 | 32800358 |
| ENSE00002240148 | 32731725 | 32731883 |
| ENSE00002242544 | 32810093 | 32810277 |
| ENSE00002247891 | 32802922 | 32803142 |
| ENSE00002255570 | 32807549 | 32807648 |
| ENSE00002286104 | 32811210 | 32811420 |
| ENSE00002292378 | 32802656 | 32802789 |
| ENSE00002295311 | 32797735 | 32797891 |
| ENSE00002295554 | 32801756 | 32801873 |
| ENSE00002311772 | 32800644 | 32800772 |
| ENSE00003792582 | 32826098 | 32826161 |
| ENSE00003796118 | 32826445 | 32826598 |
| ENSE00003800800 | 32826244 | 32826357 |
| ENSE00003804812 | 32826683 | 32826749 |
| ENSE00003806824 | 32827164 | 32829580 |
| ENSE00003963841 | 32719767 | 32720096 |
| ENSE00003963842 | 32821033 | 32821139 |
Expression profiles
Bgee: expression breadth ubiquitous, 159 present calls, max score 90.70.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3083 / max 115.0951, expressed in 46 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175066 | 0.3083 | 46 |
Top tissues by expression
279 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 | 90.70 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.21 | gold quality |
| right testis | UBERON:0004534 | 86.71 | gold quality |
| left testis | UBERON:0004533 | 86.11 | gold quality |
| testis | UBERON:0000473 | 85.65 | gold quality |
| secondary oocyte | CL:0000655 | 74.83 | silver quality |
| sperm | CL:0000019 | 68.85 | gold quality |
| male germ cell | CL:0000015 | 68.05 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 66.28 | gold quality |
| corpus epididymis | UBERON:0004359 | 66.05 | gold quality |
| ventricular zone | UBERON:0003053 | 64.74 | gold quality |
| cortical plate | UBERON:0005343 | 64.58 | gold quality |
| left uterine tube | UBERON:0001303 | 64.02 | gold quality |
| small intestine | UBERON:0002108 | 62.67 | gold quality |
| cauda epididymis | UBERON:0004360 | 62.53 | gold quality |
| putamen | UBERON:0001874 | 62.40 | gold quality |
| cerebellar vermis | UBERON:0004720 | 61.59 | gold quality |
| caudate nucleus | UBERON:0001873 | 61.54 | gold quality |
| oocyte | CL:0000023 | 61.32 | silver quality |
| cervix squamous epithelium | UBERON:0006922 | 61.23 | gold quality |
| ovary | UBERON:0000992 | 60.80 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 60.67 | gold quality |
| adrenal tissue | UBERON:0018303 | 60.39 | gold quality |
| right adrenal gland | UBERON:0001233 | 60.34 | gold quality |
| nucleus accumbens | UBERON:0001882 | 60.24 | gold quality |
| right ovary | UBERON:0002118 | 59.12 | gold quality |
| diaphragm | UBERON:0001103 | 58.84 | gold quality |
| endocervix | UBERON:0000458 | 58.08 | gold quality |
| stromal cell of endometrium | CL:0002255 | 58.02 | gold quality |
| left ovary | UBERON:0002119 | 57.97 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-53 | no | 760.07 |
| E-ANND-3 | no | 7.24 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- Here we evaluate gene and protein expression levels of four key TDRDs (TDRD1, TDRD5, TDRD9 and TDRD12) in testicular biopsy samples obtained from men with obstructive azoospermia (OA, n = 29), as controls, and various types of non-obstructive azoospermia containing hypospermatogenesis (HP, 28), maturation arrest (MA, n = 30), and Sertoli cell-only syndrome (SCOS, n = 32) as cases. (PMID:32059713)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tdrd12 | ENSDARG00000075217 |
| mus_musculus | Tdrd12 | ENSMUSG00000030491 |
| rattus_norvegicus | Tdrd12 | ENSRNOG00000012719 |
Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), DDX49 (ENSG00000105671), DDX50 (ENSG00000107625), DDX5 (ENSG00000108654), DDX25 (ENSG00000109832), DDX6 (ENSG00000110367), DDX55 (ENSG00000111364), DDX59 (ENSG00000118197), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), DDX19A (ENSG00000168872), DDX23 (ENSG00000174243), DDX10 (ENSG00000178105), DDX28 (ENSG00000182810), DDX41 (ENSG00000183258), DDX53 (ENSG00000184735), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)
Protein
Protein identifiers
Putative ATP-dependent RNA helicase TDRD12 — Q587J7 (reviewed: Q587J7)
Alternative names: ES cell-associated transcript 8 protein, Tudor domain-containing protein 12
All UniProt accessions (5): Q587J7, A0A1B0GU57, A0A1W2PRK2, A0A2R8Y872, H3BU70
UniProt curated annotations — full annotation on UniProt →
Function. Probable ATP-binding RNA helicase required during spermatogenesis to repress transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the secondary piRNAs metabolic process. Acts via the PET complex, a multiprotein complex required during the secondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs.
Subunit / interactions. Component of a mRNP complex containing PIWIL2, TDRD1 and piRNAs. Component of the PET complex, at least composed of EXD1, PIWIL2, TDRD12 and piRNAs.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q587J7-1 | 1 | yes |
| Q587J7-2 | 2 |
RefSeq proteins (2): NP_001104292, NP_001353031* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002999 | Tudor | Domain |
| IPR011545 | DEAD/DEAH_box_helicase_dom | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR035437 | SNase_OB-fold_sf | Homologous_superfamily |
| IPR047390 | Tudor_TDRD12_rpt1 | Domain |
Pfam: PF00270, PF00567
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (13 total): domain 3, sequence conflict 3, splice variant 2, chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q587J7-F1 | 73.57 | 0.36 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 460–467
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: 80 (showing top):
GOBP_MALE_GAMETE_GENERATION, GOBP_STEM_CELL_DIVISION, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_DNA_METHYLATION_DEPENDENT_CONSTITUTIVE_HETEROCHROMATIN_FORMATION, GOBP_ORGANELLE_FISSION, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GOBP_PIRNA_PROCESSING, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, GOBP_FERTILIZATION, KORKOLA_EMBRYONIC_CARCINOMA_VS_SEMINOMA_DN, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION
GO Biological Process (9): male meiotic nuclear division (GO:0007140), spermatogenesis (GO:0007283), fertilization (GO:0009566), piRNA processing (GO:0034587), germ-line stem cell division (GO:0042078), transposable element silencing by piRNA-mediated DNA methylation (GO:0141196), cell differentiation (GO:0030154), regulatory ncRNA-mediated gene silencing (GO:0031047), meiotic cell cycle (GO:0051321)
GO Molecular Function (7): nucleic acid binding (GO:0003676), RNA helicase activity (GO:0003724), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), helicase activity (GO:0004386), hydrolase activity (GO:0016787)
GO Cellular Component (1): PET complex (GO:1990923)
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 |
| meiotic nuclear division | 2 |
| sexual reproduction | 2 |
| reproductive process | 2 |
| ATP-dependent activity | 2 |
| meiotic cell cycle | 1 |
| developmental process involved in reproduction | 1 |
| regulatory ncRNA processing | 1 |
| germ cell development | 1 |
| stem cell division | 1 |
| transposable element silencing by heterochromatin formation | 1 |
| gene silencing by piRNA-directed DNA methylation | 1 |
| cellular developmental process | 1 |
| negative regulation of gene expression | 1 |
| cell cycle | 1 |
| binding | 1 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2445 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TDRD12 | EXD1 | Q8NHP7 | 910 |
| TDRD12 | PIWIL2 | Q8TC59 | 776 |
| TDRD12 | TDRD9 | Q8NDG6 | 700 |
| TDRD12 | TDRD5 | Q8NAT2 | 698 |
| TDRD12 | TDRD1 | Q9BXT4 | 682 |
| TDRD12 | TDRKH | Q9Y2W6 | 648 |
| TDRD12 | ERI2 | A8K979 | 603 |
| TDRD12 | GTSF1 | Q8WW33 | 600 |
| TDRD12 | TDRD6 | O60522 | 588 |
| TDRD12 | MOV10L1 | Q9BXT6 | 584 |
| TDRD12 | FKBP6 | O75344 | 583 |
| TDRD12 | PIWIL4 | Q7Z3Z4 | 566 |
| TDRD12 | TDRD15 | B5MCY1 | 560 |
| TDRD12 | RNF17 | Q9BXT8 | 553 |
| TDRD12 | PIWIL1 | Q96J94 | 541 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TDRD12 | RPN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| TP53 | PPM1G | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (2): TDRD12 (Proximity Label-MS), TDRD12 (Protein-RNA)
ESM2 similar proteins: A0JNQ6, A2RT67, A2RUS2, A6NC42, A6NGQ2, A9X185, O75031, O75817, O94955, O95267, P50747, Q06VW1, Q0II25, Q0ZFW8, Q1RMS8, Q1RMZ1, Q29108, Q2TBA3, Q3T0J1, Q3TYS2, Q4VX76, Q568D5, Q568M3, Q587J7, Q5JSQ8, Q5T9G4, Q5ZLS2, Q62522, Q69ZK0, Q6AYA6, Q6P5G6, Q7Z7H3, Q80X86, Q86WV5, Q8BXK4, Q8C0Q9, Q8CHQ0, Q8TCU6, Q8WUE5, Q91Z62
Diamond homologs: Q587J7, Q9CWU0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 4 |
| Uncertain significance | 56 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3024505 | NM_001366102.1(TDRD12):c.963+1G>T | Likely pathogenic |
| 3024506 | NM_001366102.1(TDRD12):c.986G>A (p.Trp329Ter) | Likely pathogenic |
| 3024507 | NM_001366102.1(TDRD12):c.2419C>T (p.Arg807Cys) | Likely pathogenic |
| 3024508 | NM_001366102.1(TDRD12):c.3157del (p.Leu1053fs) | Likely pathogenic |
SpliceAI
4510 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:32731712:A:AG | acceptor_gain | 1.0000 |
| 19:32731713:A:G | acceptor_gain | 1.0000 |
| 19:32731715:A:G | acceptor_gain | 1.0000 |
| 19:32731880:ACAGG:A | donor_loss | 1.0000 |
| 19:32731881:CAGGT:C | donor_loss | 1.0000 |
| 19:32731882:AGG:A | donor_loss | 1.0000 |
| 19:32731884:G:GG | donor_gain | 1.0000 |
| 19:32731885:TATG:T | donor_loss | 1.0000 |
| 19:32738850:TTGCA:T | acceptor_loss | 1.0000 |
| 19:32738851:TGCA:T | acceptor_loss | 1.0000 |
| 19:32738852:GCA:G | acceptor_loss | 1.0000 |
| 19:32738853:CA:C | acceptor_loss | 1.0000 |
| 19:32738855:GGTGT:G | acceptor_gain | 1.0000 |
| 19:32738989:AAAA:A | donor_gain | 1.0000 |
| 19:32738989:AAAAG:A | donor_loss | 1.0000 |
| 19:32738990:AAA:A | donor_gain | 1.0000 |
| 19:32738990:AAAG:A | donor_loss | 1.0000 |
| 19:32738991:AA:A | donor_gain | 1.0000 |
| 19:32738992:AG:A | donor_loss | 1.0000 |
| 19:32738993:G:C | donor_loss | 1.0000 |
| 19:32738993:G:GG | donor_gain | 1.0000 |
| 19:32738994:T:G | donor_loss | 1.0000 |
| 19:32742779:A:AG | acceptor_gain | 1.0000 |
| 19:32742780:G:GG | acceptor_gain | 1.0000 |
| 19:32742780:GC:G | acceptor_gain | 1.0000 |
| 19:32742896:ATTGT:A | donor_gain | 1.0000 |
| 19:32742897:TTGT:T | donor_gain | 1.0000 |
| 19:32742899:GT:G | donor_gain | 1.0000 |
| 19:32742900:TG:T | donor_loss | 1.0000 |
| 19:32742901:G:GA | donor_loss | 1.0000 |
AlphaMissense
8834 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:32748489:T:A | W152R | 0.998 |
| 19:32748489:T:C | W152R | 0.998 |
| 19:32738897:G:C | R75S | 0.997 |
| 19:32738897:G:T | R75S | 0.997 |
| 19:32738889:T:A | W73R | 0.996 |
| 19:32738889:T:C | W73R | 0.996 |
| 19:32748491:G:C | W152C | 0.996 |
| 19:32748491:G:T | W152C | 0.996 |
| 19:32811409:T:A | W1013R | 0.996 |
| 19:32811409:T:C | W1013R | 0.996 |
| 19:32738896:G:C | R75T | 0.995 |
| 19:32738895:A:G | R75G | 0.994 |
| 19:32738896:G:T | R75M | 0.994 |
| 19:32755999:T:A | V197D | 0.994 |
| 19:32794679:T:A | W447R | 0.994 |
| 19:32794679:T:C | W447R | 0.994 |
| 19:32801834:T:A | W720R | 0.994 |
| 19:32801834:T:C | W720R | 0.994 |
| 19:32798320:T:A | V548D | 0.993 |
| 19:32738898:G:C | A76P | 0.992 |
| 19:32738958:G:C | D96H | 0.991 |
| 19:32756003:T:A | N198K | 0.991 |
| 19:32756003:T:G | N198K | 0.991 |
| 19:32756011:T:C | L201P | 0.991 |
| 19:32802751:C:A | R765S | 0.991 |
| 19:32813762:T:A | W1043R | 0.991 |
| 19:32813762:T:C | W1043R | 0.991 |
| 19:32798389:T:C | L571P | 0.990 |
| 19:32738866:T:A | V65D | 0.989 |
| 19:32738959:A:C | D96A | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000007795 (19:32739830 C>G,T), RS1000033929 (19:32734247 A>G), RS1000035260 (19:32757521 C>G), RS1000081585 (19:32748637 C>A,G,T), RS1000111922 (19:32748478 C>G), RS1000116159 (19:32827994 A>T), RS1000130414 (19:32820549 T>A,G), RS1000178524 (19:32782785 A>C,G,T), RS1000200291 (19:32782833 A>G), RS1000225917 (19:32827869 C>T), RS1000227420 (19:32731320 C>T), RS1000253931 (19:32782552 A>C,G), RS1000267793 (19:32822752 A>G), RS1000272965 (19:32800964 G>C), RS1000287542 (19:32751741 A>T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (1): male infertility (MONDO:0005372)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000649_8 | Chronic kidney disease | 3.000000e-15 |
| GCST90002383_276 | Hematocrit | 7.000000e-18 |
| GCST90002384_449 | Hemoglobin | 2.000000e-21 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007248 | Infertility, Male | C12.100.500.430; C12.100.750.700; C12.200.294.430 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| entinostat | increases expression, affects cotreatment | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| Lead | decreases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
Clinical trials (associated diseases)
125 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02202382 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Male Infertility |
| NCT02204826 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study |
| NCT03802864 | PHASE4 | COMPLETED | Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine |
| NCT06100432 | PHASE4 | ACTIVE_NOT_RECRUITING | Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males |
| NCT07523022 | PHASE4 | ENROLLING_BY_INVITATION | Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups |
| NCT00975117 | PHASE3 | COMPLETED | Spermotrend in the Treatment of Male Infertility |
| NCT01407432 | PHASE3 | COMPLETED | Impact of Folates in the Care of the Male Infertility |
| NCT01895816 | PHASE3 | COMPLETED | Herbal Tonic Fertile Supplement(ZO2C5) |
| NCT02605070 | PHASE3 | TERMINATED | Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia |
| NCT07402759 | PHASE3 | ACTIVE_NOT_RECRUITING | Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men |
| NCT01880086 | PHASE2 | COMPLETED | Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration |
| NCT02061384 | PHASE2 | COMPLETED | RA-2 13-cis Retinoic Acid (Isotretinoin) |
| NCT02421887 | PHASE2 | COMPLETED | Males, Antioxidants, and Infertility Trial |
| NCT05200663 | PHASE2 | UNKNOWN | Efficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility |
| NCT05290558 | PHASE2 | ACTIVE_NOT_RECRUITING | The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial |
| NCT06091969 | PHASE2 | NOT_YET_RECRUITING | Supplementation for Male Subfertility |
| NCT01595308 | PHASE1 | COMPLETED | A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers |
| NCT02122211 | PHASE1 | COMPLETED | Choline Dehydrogenase and Sperm Function: Effects of Betaine |
| NCT02575924 | PHASE1 | UNKNOWN | Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility |
| NCT01304927 | PHASE2/PHASE3 | COMPLETED | Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial |
| NCT02349945 | PHASE2/PHASE3 | COMPLETED | FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy |
| NCT05222841 | PHASE2/PHASE3 | COMPLETED | The Effectiveness of Spermotrend Food Supplement in the Treatment of Male Infertility |
| NCT05616598 | PHASE2/PHASE3 | COMPLETED | Effect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters |
| NCT02025270 | PHASE1/PHASE2 | COMPLETED | MSCs For Treatment of Azoospermic Patients |
| NCT04541459 | EARLY_PHASE1 | UNKNOWN | Validation of New Devices Against Ambient Electromagnetic Radiation |
| NCT05792813 | EARLY_PHASE1 | UNKNOWN | Efficacy and Safety of Linggui Yangyuan Paste in Patients With Male Infertility |
| NCT06188936 | EARLY_PHASE1 | COMPLETED | Home Semen Analysis Tests As a Screening Tool for Fertility Patients |
| NCT00012480 | Not specified | COMPLETED | Effect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm |
| NCT00044369 | Not specified | COMPLETED | Role of the Toxic Metal Cadmium in the Mechanism Producing Infertility With a Varicocele |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
| NCT00178516 | Not specified | COMPLETED | Vitamin E and Male Infertility |
| NCT00315029 | Not specified | COMPLETED | Patient-Centered Implementation Trial for Single Embryo Transfer |
| NCT00341120 | Not specified | COMPLETED | Genetic Causes of Male Infertility |
| NCT00481403 | Not specified | COMPLETED | Study of Sperm Molecular Factors Implicated in Male Fertility |
| NCT00548977 | Not specified | COMPLETED | Genetic Studies Spermatogenic Failure |
| NCT00596739 | Not specified | COMPLETED | A Study of the Pre- and Post-operative Semen Analyses and Reproductive Hormone Levels of Men Undergoing Weight-reduction Surgery |
| NCT00756561 | Not specified | COMPLETED | HOP-2A - Intratesticular Hormone Levels |
| NCT00961558 | Not specified | TERMINATED | Canadian Varicocelectomy Initiative (CVI): Effects on Male Fertility and Testicular Function of Varicocelectomy |
| NCT01075334 | Not specified | UNKNOWN | Is a Carnitine Based Food Supplement (PorimoreTM) for Infertile Men Superior to Folate and Zinc With Regard to Pregnancy Rates in Intrauterine Insemination Cycles? |
| NCT01178463 | Not specified | UNKNOWN | Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): male infertility