M1AP
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Also known as D6Mm5eSPATA37
Summary
M1AP (meiosis 1 associated protein, HGNC:25183) is a protein-coding gene on chromosome 2p13.1, encoding Meiosis 1 arrest protein (Q8TC57). Required for meiosis I progression during spermatogenesis.
This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 130951 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 48 (Strong, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 105 total — 2 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 6
- MANE Select transcript:
NM_001321739
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25183 |
| Approved symbol | M1AP |
| Name | meiosis 1 associated protein |
| Location | 2p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | D6Mm5e, SPATA37 |
| Ensembl gene | ENSG00000159374 |
| Ensembl biotype | protein_coding |
| OMIM | 619098 |
| Entrez | 130951 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000290536, ENST00000409585, ENST00000421985, ENST00000422394, ENST00000438226, ENST00000464686, ENST00000478437, ENST00000485997, ENST00000536235, ENST00000924975, ENST00000924976
RefSeq mRNA: 4 — MANE Select: NM_001321739
NM_001281295, NM_001281296, NM_001321739, NM_138804
CCDS: CCDS33229, CCDS62941
Canonical transcript exons
ENST00000421985 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001806226 | 74648265 | 74648330 |
| ENSE00001913757 | 74557883 | 74558874 |
| ENSE00002532889 | 74559698 | 74559709 |
| ENSE00003478137 | 74575438 | 74575579 |
| ENSE00003481248 | 74576456 | 74576618 |
| ENSE00003503235 | 74562217 | 74562423 |
| ENSE00003556498 | 74560151 | 74560291 |
| ENSE00003560321 | 74607055 | 74607223 |
| ENSE00003652436 | 74640036 | 74640327 |
| ENSE00003669716 | 74581674 | 74581847 |
| ENSE00003787018 | 74614964 | 74615149 |
Expression profiles
Bgee: expression breadth ubiquitous, 154 present calls, max score 85.51.
FANTOM5 (CAGE): breadth broad, TPM avg 0.5860 / max 31.7260, expressed in 259 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29255 | 0.3331 | 122 |
| 29257 | 0.1895 | 110 |
| 29256 | 0.0634 | 26 |
Top tissues by expression
243 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 | 85.51 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.41 | gold quality |
| bone marrow cell | CL:0002092 | 76.12 | gold quality |
| monocyte | CL:0000576 | 71.74 | gold quality |
| leukocyte | CL:0000738 | 71.61 | gold quality |
| right testis | UBERON:0004534 | 71.00 | gold quality |
| left testis | UBERON:0004533 | 70.63 | gold quality |
| testis | UBERON:0000473 | 70.54 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 68.44 | gold quality |
| granulocyte | CL:0000094 | 67.22 | gold quality |
| islet of Langerhans | UBERON:0000006 | 66.68 | gold quality |
| prefrontal cortex | UBERON:0000451 | 66.11 | gold quality |
| right uterine tube | UBERON:0001302 | 65.56 | gold quality |
| adenohypophysis | UBERON:0002196 | 65.12 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 64.35 | gold quality |
| bone marrow | UBERON:0002371 | 62.82 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 62.61 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 62.28 | gold quality |
| pituitary gland | UBERON:0000007 | 61.91 | gold quality |
| right lung | UBERON:0002167 | 61.88 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 61.27 | gold quality |
| amygdala | UBERON:0001876 | 61.18 | gold quality |
| sural nerve | UBERON:0015488 | 61.15 | silver quality |
| thyroid gland | UBERON:0002046 | 61.14 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 60.82 | gold quality |
| blood | UBERON:0000178 | 60.72 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 60.66 | gold quality |
| omental fat pad | UBERON:0010414 | 60.59 | gold quality |
| peritoneum | UBERON:0002358 | 60.54 | gold quality |
| spinal cord | UBERON:0002240 | 60.32 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.18 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting M1AP, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-4666B | 99.64 | 68.69 | 1282 |
| HSA-MIR-150-3P | 99.43 | 70.51 | 920 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-4744 | 99.01 | 69.91 | 1581 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-520G-3P | 98.91 | 67.38 | 1914 |
| HSA-MIR-520H | 98.91 | 67.38 | 1914 |
| HSA-MIR-224-3P | 98.91 | 68.42 | 1815 |
| HSA-MIR-522-3P | 98.91 | 68.56 | 1817 |
| HSA-MIR-412-3P | 98.86 | 66.89 | 712 |
| HSA-MIR-6754-3P | 98.84 | 66.60 | 889 |
| HSA-MIR-760 | 98.81 | 66.65 | 1392 |
| HSA-MIR-3135B | 98.61 | 65.33 | 1470 |
| HSA-MIR-3188 | 98.58 | 65.60 | 878 |
| HSA-MIR-6818-3P | 98.56 | 68.23 | 1307 |
| HSA-MIR-3668 | 98.52 | 68.76 | 951 |
| HSA-MIR-5089-5P | 98.45 | 66.06 | 1388 |
| HSA-MIR-484 | 98.16 | 66.92 | 1074 |
| HSA-MIR-3155A | 98.16 | 66.09 | 965 |
Literature-anchored findings (GeneRIF, showing 2)
- An M1AP homozygous splice-site mutation associated with severe oligozoospermia in a consanguineous family. (PMID:32017041)
- Structural analysis of M1AP variants associated with severely impaired spermatogenesis causing male infertility. (PMID:35341049)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | m1ap | ENSDARG00000099485 |
| mus_musculus | M1ap | ENSMUSG00000030041 |
| rattus_norvegicus | M1ap | ENSRNOG00000007288 |
Protein
Protein identifiers
Meiosis 1 arrest protein — Q8TC57 (reviewed: Q8TC57)
Alternative names: Meiosis 1-arresting protein, Meiosis 1-associated protein, Spermatogenesis-associated protein 37
All UniProt accessions (3): Q8TC57, C9JPR9, F8WEA5
UniProt curated annotations — full annotation on UniProt →
Function. Required for meiosis I progression during spermatogenesis.
Subcellular location. Cytoplasm.
Disease relevance. Spermatogenic failure 48 (SPGF48) [MIM:619108] An autosomal recessive infertility disorder caused by spermatogenesis defects resulting in non-obstructive azoospermia. The disease may be caused by variants affecting the gene represented in this entry.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TC57-1 | 1 | yes |
| Q8TC57-2 | 2 | |
| Q8TC57-3 | 3 | |
| Q8TC57-4 | 4 |
RefSeq proteins (4): NP_001268224, NP_001268225, NP_001308668, NP_620159 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR033587 | M1AP | Family |
UniProt features (16 total): sequence variant 7, splice variant 5, chain 1, region of interest 1, sequence conflict 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TC57-F1 | 74.03 | 0.44 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 79 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_DN, GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, MODULE_511, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_CHROMOSOME_SEPARATION, GOBP_MALE_GAMETE_GENERATION, GOBP_ORGANELLE_FISSION, GOBP_MEIOTIC_CHROMOSOME_SEPARATION, GOBP_FEMALE_GAMETE_GENERATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, GOBP_NUCLEAR_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE, MARSON_BOUND_BY_FOXP3_STIMULATED
GO Biological Process (7): chromatin organization (GO:0006325), RNA processing (GO:0006396), meiosis I (GO:0007127), spermatogenesis (GO:0007283), female gamete generation (GO:0007292), cell differentiation (GO:0030154), male meiosis chromosome separation (GO:0051308)
GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cellular component organization | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| meiotic telophase I | 1 |
| meiosis I cell cycle process | 1 |
| meiotic nuclear division | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| gamete generation | 1 |
| cellular developmental process | 1 |
| male meiosis chromosome segregation | 1 |
| male meiotic nuclear division | 1 |
| meiotic chromosome separation | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
764 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| M1AP | STAG3 | Q9UJ98 | 584 |
| M1AP | FBXO47 | Q5MNV8 | 578 |
| M1AP | MEIOC | A2RUB1 | 558 |
| M1AP | MEI1 | Q5TIA1 | 558 |
| M1AP | STPG2 | Q8N412 | 557 |
| M1AP | SHOC1 | Q5VXU9 | 545 |
| M1AP | ADAD2 | Q8NCV1 | 516 |
| M1AP | PRDM9 | Q9NQV7 | 465 |
| M1AP | RAD21L1 | Q9H4I0 | 464 |
| M1AP | CCDC142 | Q17RM4 | 460 |
| M1AP | OR5K3 | A6NET4 | 447 |
| M1AP | HAUS8 | Q9BT25 | 437 |
| M1AP | SMC1B | Q8NDV3 | 429 |
| M1AP | TEX38 | Q6PEX7 | 420 |
| M1AP | LRRC42 | Q9Y546 | 416 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| M1AP | M1AP | psi-mi:“MI:0915”(physical association) | 0.670 |
| CRX | M1AP | psi-mi:“MI:0915”(physical association) | 0.670 |
| M1AP | TRIP13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| M1AP | POLR3GL | psi-mi:“MI:0915”(physical association) | 0.560 |
| M1AP | PLEKHA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAHD1 | M1AP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SIAH1 | M1AP | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA6L9 | M1AP | psi-mi:“MI:0915”(physical association) | 0.560 |
| CWF19L2 | M1AP | psi-mi:“MI:0915”(physical association) | 0.560 |
| OTX2 | M1AP | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMNB1 | M1AP | psi-mi:“MI:0915”(physical association) | 0.560 |
| OTX1 | M1AP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF740 | M1AP | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBL3 | M1AP | psi-mi:“MI:0915”(physical association) | 0.560 |
| DES | M1AP | psi-mi:“MI:0915”(physical association) | 0.560 |
| NP | KPNA6 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL34 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| AMZ1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| POLR3GL | M1AP | psi-mi:“MI:0915”(physical association) | 0.000 |
| M1AP | PLEKHA2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| M1AP | M1AP | psi-mi:“MI:0915”(physical association) | 0.000 |
| M1AP | BAHD1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| M1AP | SIAH1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (19): M1AP (Two-hybrid), M1AP (Two-hybrid), M1AP (Two-hybrid), M1AP (Two-hybrid), M1AP (Two-hybrid), M1AP (Two-hybrid), M1AP (Two-hybrid), M1AP (Two-hybrid), M1AP (Two-hybrid), M1AP (Two-hybrid), M1AP (Two-hybrid), M1AP (Two-hybrid), OTX2 (Two-hybrid), PLEKHA2 (Two-hybrid), DES (Two-hybrid)
ESM2 similar proteins: A1A4J7, A2A9C3, A2BID5, B1WC10, E7FAW3, E7FCN8, O02696, O15360, O75153, O75800, O95248, Q08D69, Q1JPG0, Q3U6Q4, Q499Q5, Q5BLE2, Q5SW28, Q5SW45, Q5T011, Q5U1Z0, Q5U249, Q5UE93, Q5ZIB8, Q6AXZ5, Q6GLY5, Q6GR21, Q6PGF3, Q6ZNJ1, Q6ZQA0, Q7L4E1, Q8BK03, Q8BM55, Q8BMG7, Q8C3S2, Q8CJF7, Q8ND04, Q8QZV7, Q8TC57, Q8VDR9, Q8VE18
Diamond homologs: Q8TC57, Q9Z0E1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 2 |
| Uncertain significance | 82 |
| Likely benign | 9 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3061751 | NM_001321739.2(M1AP):c.1073_1074+10del | Pathogenic |
| 870128 | NM_001321739.2(M1AP):c.1435-1G>A | Pathogenic |
| 4845729 | NM_001321739.2(M1AP):c.932+1G>A | Likely pathogenic |
| 4845843 | NM_001321739.2(M1AP):c.13C>T (p.Arg5Ter) | Likely pathogenic |
SpliceAI
1695 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:74560288:TGCT:T | acceptor_gain | 1.0000 |
| 2:74560290:CT:C | acceptor_gain | 1.0000 |
| 2:74560292:C:CC | acceptor_gain | 1.0000 |
| 2:74576442:C:A | donor_gain | 1.0000 |
| 2:74576454:A:AC | donor_gain | 1.0000 |
| 2:74576455:C:CC | donor_gain | 1.0000 |
| 2:74576615:CACA:C | acceptor_gain | 1.0000 |
| 2:74576616:ACACT:A | acceptor_loss | 1.0000 |
| 2:74576617:CA:C | acceptor_gain | 1.0000 |
| 2:74576618:ACT:A | acceptor_loss | 1.0000 |
| 2:74576619:C:CC | acceptor_gain | 1.0000 |
| 2:74576620:T:C | acceptor_loss | 1.0000 |
| 2:74581672:A:AC | donor_gain | 1.0000 |
| 2:74581673:C:CC | donor_gain | 1.0000 |
| 2:74640031:CTTA:C | donor_loss | 1.0000 |
| 2:74640032:TTACC:T | donor_loss | 1.0000 |
| 2:74640033:TAC:T | donor_loss | 1.0000 |
| 2:74640325:CAC:C | acceptor_gain | 1.0000 |
| 2:74560145:CGGTA:C | donor_loss | 0.9900 |
| 2:74560146:GGTAC:G | donor_loss | 0.9900 |
| 2:74560147:GTA:G | donor_loss | 0.9900 |
| 2:74560148:TACC:T | donor_loss | 0.9900 |
| 2:74560149:A:AG | donor_loss | 0.9900 |
| 2:74560287:ATGCT:A | acceptor_gain | 0.9900 |
| 2:74560291:TC:T | acceptor_loss | 0.9900 |
| 2:74560293:T:A | acceptor_loss | 0.9900 |
| 2:74575576:AGCCC:A | acceptor_gain | 0.9900 |
| 2:74575577:GCCCT:G | acceptor_gain | 0.9900 |
| 2:74575578:CC:C | acceptor_gain | 0.9900 |
| 2:74575579:CC:C | acceptor_gain | 0.9900 |
AlphaMissense
916 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:74640081:A:C | S65R | 0.996 |
| 2:74640081:A:T | S65R | 0.996 |
| 2:74640083:T:G | S65R | 0.996 |
| 2:74640142:A:G | L45P | 0.986 |
| 2:74615035:C:G | G119R | 0.977 |
| 2:74615035:C:T | G119R | 0.977 |
| 2:74640202:A:G | L25P | 0.976 |
| 2:74615034:C:T | G119E | 0.974 |
| 2:74615035:C:A | G119W | 0.972 |
| 2:74640046:A:G | L77P | 0.972 |
| 2:74640146:C:G | A44P | 0.968 |
| 2:74640154:A:G | L41P | 0.968 |
| 2:74640205:A:G | L24P | 0.964 |
| 2:74640082:C:A | S65I | 0.961 |
| 2:74615124:A:G | L89S | 0.960 |
| 2:74640040:A:G | F79S | 0.960 |
| 2:74615046:G:T | A115E | 0.959 |
| 2:74640176:A:G | W34R | 0.959 |
| 2:74640176:A:T | W34R | 0.959 |
| 2:74640051:G:C | C75W | 0.958 |
| 2:74640202:A:C | L25R | 0.957 |
| 2:74615103:A:G | L96P | 0.956 |
| 2:74640053:A:G | C75R | 0.954 |
| 2:74615031:A:G | L120P | 0.953 |
| 2:74640145:G:T | A44D | 0.949 |
| 2:74640077:A:C | Y67D | 0.947 |
| 2:74640085:A:G | F64S | 0.947 |
| 2:74640082:C:T | S65N | 0.945 |
| 2:74615043:A:T | V116E | 0.944 |
| 2:74640202:A:T | L25H | 0.944 |
dbSNP variants (sampled 300 via entrez): RS1000039060 (2:74603320 T>G), RS1000053489 (2:74623927 T>C), RS1000059030 (2:74585966 CTTG>C), RS1000127390 (2:74584666 A>G), RS1000221941 (2:74584811 T>A), RS1000223025 (2:74637427 A>T), RS1000233625 (2:74638830 G>T), RS1000236398 (2:74630359 T>C), RS1000239173 (2:74578830 G>A), RS1000240289 (2:74616558 A>G), RS1000319307 (2:74563965 C>G), RS1000356694 (2:74591382 T>C), RS1000406904 (2:74577414 A>C), RS1000422956 (2:74598317 G>T), RS1000482834 (2:74630502 G>T)
Disease associations
OMIM: gene MIM:619098 | disease phenotypes: MIM:619108
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 48 | Strong | Autosomal recessive |
Mondo (2): spermatogenic failure 48 (MONDO:0030846), male infertility (MONDO:0005372)
Orphanet (1): Male infertility with azoospermia or oligozoospermia due to single gene mutation (Orphanet:399805)
HPO phenotypes
6 total (6 of 6 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000027 | Azoospermia |
| HP:0000798 | Oligozoospermia |
| HP:0003251 | Male infertility |
| HP:0003581 | Adult onset |
| HP:0031038 | Spermatogenesis maturation arrest |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_394 | Refractive error | 2.000000e-11 |
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
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| potassium chromate(VI) | increases expression, affects cotreatment, decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | affects expression | 1 |
| bisphenol S | increases methylation | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Formaldehyde | affects response to substance | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Vanadates | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Genistein | decreases expression | 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
- Associated diseases: spermatogenic failure 48
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): male infertility, spermatogenic failure 48