SPATA22
geneOn this page
Also known as NYD-SP20
Summary
SPATA22 (spermatogenesis associated 22, HGNC:30705) is a protein-coding gene on chromosome 17p13.2, encoding Spermatogenesis-associated protein 22 (Q8NHS9). Meiosis-specific protein required for homologous recombination in meiosis I.
Predicted to be involved in regulation of meiotic cell cycle. Predicted to act upstream of or within several processes, including fertilization; gamete generation; and meiosis I cell cycle process. Predicted to be located in chromosome.
Source: NCBI Gene 84690 — RefSeq curated summary.
At a glance
- Gene–disease (curated): infertility disorder (Moderate, GenCC) — +1 more curated relationship
- GWAS associations: 1
- Clinical variants (ClinVar): 195 total — 7 pathogenic, 6 likely-pathogenic
- Phenotypes (HPO): 14
- MANE Select transcript:
NM_001170698
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30705 |
| Approved symbol | SPATA22 |
| Name | spermatogenesis associated 22 |
| Location | 17p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NYD-SP20 |
| Ensembl gene | ENSG00000141255 |
| Ensembl biotype | protein_coding |
| OMIM | 617673 |
| Entrez | 84690 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 14 protein_coding
ENST00000268981, ENST00000355380, ENST00000397168, ENST00000541913, ENST00000570318, ENST00000571553, ENST00000571607, ENST00000572582, ENST00000572969, ENST00000573128, ENST00000574051, ENST00000574457, ENST00000574797, ENST00000575375
RefSeq mRNA: 8 — MANE Select: NM_001170698
NM_001170695, NM_001170696, NM_001170697, NM_001170698, NM_001170699, NM_001321336, NM_001321337, NM_032598
CCDS: CCDS11027, CCDS54066, CCDS54067, CCDS82036
Canonical transcript exons
ENST00000572969 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002649723 | 3440019 | 3440338 |
| ENSE00002668971 | 3471682 | 3471819 |
| ENSE00003533661 | 3448807 | 3449149 |
| ENSE00003577613 | 3462483 | 3462578 |
| ENSE00003580316 | 3462707 | 3462767 |
| ENSE00003628189 | 3443174 | 3443271 |
| ENSE00003650134 | 3469283 | 3469398 |
| ENSE00003653361 | 3446472 | 3446601 |
| ENSE00003681574 | 3467426 | 3467554 |
Expression profiles
Bgee: expression breadth ubiquitous, 161 present calls, max score 98.96.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4113 / max 223.2871, expressed in 76 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 163845 | 0.2556 | 6 |
| 163846 | 0.1527 | 71 |
| 208031 | 0.0030 | 2 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.96 | gold quality |
| right testis | UBERON:0004534 | 98.55 | gold quality |
| left testis | UBERON:0004533 | 98.39 | gold quality |
| testis | UBERON:0000473 | 95.98 | gold quality |
| adult organism | UBERON:0007023 | 95.12 | gold quality |
| secondary oocyte | CL:0000655 | 92.11 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.58 | gold quality |
| oocyte | CL:0000023 | 89.63 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.59 | gold quality |
| endothelial cell | CL:0000115 | 67.49 | silver quality |
| sural nerve | UBERON:0015488 | 66.61 | gold quality |
| pancreatic ductal cell | CL:0002079 | 64.46 | silver quality |
| calcaneal tendon | UBERON:0003701 | 59.47 | gold quality |
| gastrocnemius | UBERON:0001388 | 58.79 | gold quality |
| muscle of leg | UBERON:0001383 | 58.70 | gold quality |
| ganglionic eminence | UBERON:0004023 | 57.84 | gold quality |
| prefrontal cortex | UBERON:0000451 | 57.75 | gold quality |
| tibialis anterior | UBERON:0001385 | 57.38 | silver quality |
| caudate nucleus | UBERON:0001873 | 56.31 | gold quality |
| tibial nerve | UBERON:0001323 | 56.28 | gold quality |
| hypothalamus | UBERON:0001898 | 56.04 | gold quality |
| amygdala | UBERON:0001876 | 55.72 | gold quality |
| putamen | UBERON:0001874 | 55.69 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 55.21 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 55.18 | gold quality |
| substantia nigra | UBERON:0002038 | 55.15 | gold quality |
| nucleus accumbens | UBERON:0001882 | 55.00 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 54.92 | gold quality |
| ventricular zone | UBERON:0003053 | 54.74 | gold quality |
| omental fat pad | UBERON:0010414 | 54.71 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 1487.49 |
| E-ANND-3 | no | 2.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
15 targeting SPATA22, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-4272 | 98.76 | 68.74 | 1810 |
| HSA-MIR-4703-5P | 98.53 | 70.13 | 1645 |
| HSA-MIR-3942-5P | 98.52 | 69.51 | 1517 |
Literature-anchored findings (GeneRIF, showing 5)
- Data indicate that the positive expression of studied genes fertilization rate for GAPDHS positive subset was 66%, ACR - 71%, SPATA22 - 68%, MND1 - 70%, pregnancy rates were 8%, 6%, 18% and 36% respectively. (PMID:23675907)
- The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex. (PMID:33812231)
- Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB. (PMID:34392356)
- Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest. (PMID:35285020)
- Nuclear localization of human MEIOB requires its NLS in the OB domain and interaction with SPATA22. (PMID:36331299)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spata22 | ENSDARG00000098537 |
| mus_musculus | Spata22 | ENSMUSG00000112920 |
| rattus_norvegicus | Spata22 | ENSRNOG00000037307 |
Protein
Protein identifiers
Spermatogenesis-associated protein 22 — Q8NHS9 (reviewed: Q8NHS9)
Alternative names: Testis development protein NYD-SP20
All UniProt accessions (9): A0A140VJV9, Q8NHS9, F5GWB9, I3L1L5, I3L2B9, I3L3S6, I3L4D7, I3L4R7, I3L517
UniProt curated annotations — full annotation on UniProt →
Function. Meiosis-specific protein required for homologous recombination in meiosis I.
Subunit / interactions. Component of a multiprotein complex with MEIOB and RPA2. Interacts with MEIOB. Interacts with the complex BRME1:HSF2BP:BRCA2.
Subcellular location. Chromosome.
Tissue specificity. Highly expressed in adult testis.
Disease relevance. Spermatogenic failure 96 (SPGF96) [MIM:621001] An autosomal recessive, male infertility disorder characterized by non-obstructive azoospermia due to spermatogenesis arrest at the zygotene stage. The disease is caused by variants affecting the gene represented in this entry. Premature ovarian failure 25 (POF25) [MIM:621002] A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF25 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NHS9-1 | 1, NYD-SP20C, NYD-SP20D | yes |
| Q8NHS9-2 | 2, NYD-SP20B | |
| Q8NHS9-3 | 3 |
RefSeq proteins (8): NP_001164166, NP_001164167, NP_001164168, NP_001164169, NP_001164170, NP_001308265, NP_001308266, NP_115987 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR033536 | Spata22 | Family |
UniProt features (19 total): sequence variant 6, compositionally biased region 4, region of interest 3, sequence conflict 3, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NHS9-F1 | 61.02 | 0.30 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 88 (showing top):
GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_MEIOTIC_CELL_CYCLE, GOBP_ORGANELLE_FISSION, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_DNA_DAMAGE_RESPONSE, GOBP_CHROMOSOME_ORGANIZATION_INVOLVED_IN_MEIOTIC_CELL_CYCLE, GOBP_DNA_BIOSYNTHETIC_PROCESS, GOBP_DNA_SYNTHESIS_INVOLVED_IN_DNA_REPAIR, GOBP_HOMOLOGOUS_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, WEBER_METHYLATED_HCP_IN_SPERM_UP, GOBP_FERTILIZATION
GO Biological Process (8): meiotic DNA repair synthesis (GO:0000711), homologous chromosome pairing at meiosis (GO:0007129), fertilization (GO:0009566), spermatocyte division (GO:0048137), regulation of meiotic cell cycle (GO:0051445), reproductive system development (GO:0061458), gamete generation (GO:0007276), meiotic cell cycle (GO:0051321)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): chromosome (GO:0005694)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| sexual reproduction | 3 |
| reproductive process | 2 |
| DNA synthesis involved in DNA repair | 1 |
| meiosis I cell cycle process | 1 |
| homologous chromosome segregation | 1 |
| chromosome organization involved in meiotic cell cycle | 1 |
| spermatogenesis | 1 |
| cell division | 1 |
| meiotic cell cycle | 1 |
| regulation of cell cycle | 1 |
| regulation of reproductive process | 1 |
| system development | 1 |
| multicellular organismal reproductive process | 1 |
| cell cycle | 1 |
| meiotic nuclear division | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
812 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPATA22 | MEIOB | Q8N635 | 968 |
| SPATA22 | HSF2BP | O75031 | 775 |
| SPATA22 | SYCP3 | Q8IZU3 | 632 |
| SPATA22 | BRME1 | Q0VDD7 | 620 |
| SPATA22 | SYCE3 | A1L190 | 617 |
| SPATA22 | SYCE2 | Q6PIF2 | 597 |
| SPATA22 | HORMAD1 | Q86X24 | 597 |
| SPATA22 | SPO11 | Q9Y5K1 | 581 |
| SPATA22 | SYCP1 | Q15431 | 541 |
| SPATA22 | SYCE1 | Q8N0S2 | 538 |
| SPATA22 | HORMAD2 | Q8N7B1 | 537 |
| SPATA22 | HFM1 | A2PYH4 | 523 |
| SPATA22 | SPATA17 | Q96L03 | 518 |
| SPATA22 | SHPK | Q9UHJ6 | 506 |
| SPATA22 | SPATA4 | Q8NEY3 | 496 |
| SPATA22 | PRDM9 | Q9NQV7 | 496 |
IntAct
84 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SPATA22 | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSF2BP | SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA22 | DR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SPATA22 | GFAP | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF2B | SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA22 | NDUFV2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA22 | NF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA22 | PMP22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA22 | GTF3C3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA22 | DNAJB6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPTLC1 | SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA22 | ATXN10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA22 | JPH3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SOD1 | SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FUS | SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNCA | SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARDBP | SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRK2 | SPATA22 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (16): SPATA22 (Two-hybrid), DES (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), SPATA22 (Two-hybrid), SPATA22 (Synthetic Lethality), HSF2BP (Two-hybrid), BLK (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), DES (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), SPATA22 (Two-hybrid), SPATA22 (Affinity Capture-MS), SPATA22 (Two-hybrid), KDM1A (Two-hybrid)
ESM2 similar proteins: A2RVA7, A4IF98, F6UH96, O08901, O60566, O75113, P14629, P62283, P62285, P62286, P62287, P62289, P62290, P62291, P62292, P62293, P62294, P62297, Q08DB0, Q0P4I1, Q0VA42, Q17RS7, Q2TA20, Q32NQ8, Q4R7I0, Q5F3D1, Q5I2W8, Q5R789, Q5T5J6, Q5ZHV8, Q6A037, Q6DDH2, Q6DJS0, Q6NZY4, Q6XV80, Q7Y1C4, Q7Y1C5, Q7ZVM9, Q7ZXG4, Q7ZXT3
Diamond homologs: Q2TA20, Q5SV06, Q8NHS9, Q95JQ1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
195 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 7 |
| Likely pathogenic | 6 |
| Uncertain significance | 95 |
| Likely benign | 32 |
| Benign | 45 |
Top pathogenic / likely-pathogenic (13)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1420788 | NM_000049.4(ASPA):c.34C>T (p.Gln12Ter) | Pathogenic |
| 188940 | NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) | Pathogenic |
| 2691735 | NM_001170698.2(SPATA22):c.253del (p.Ser85fs) | Pathogenic |
| 2736390 | NM_000049.4(ASPA):c.209A>G (p.Asn70Ser) | Pathogenic |
| 3370406 | NM_001170698.2(SPATA22):c.400C>T (p.Arg134Ter) | Pathogenic |
| 3370407 | NM_001170698.2(SPATA22):c.31C>T (p.Arg11Ter) | Pathogenic |
| 3370408 | NM_001170698.2(SPATA22):c.900+1G>A | Pathogenic |
| 1724393 | NM_000049.4(ASPA):c.406_407del (p.Leu136fs) | Likely pathogenic |
| 371178 | NM_000049.4(ASPA):c.745-2A>G | Likely pathogenic |
| 371463 | NM_000049.4(ASPA):c.237-1G>T | Likely pathogenic |
| 523964 | NM_000049.4(ASPA):c.689_698del (p.Asp230fs) | Likely pathogenic |
| 556181 | NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) | Likely pathogenic |
| 556864 | NM_000049.4(ASPA):c.796dup (p.Asp266fs) | Likely pathogenic |
SpliceAI
2643 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:3446605:T:C | acceptor_gain | 1.0000 |
| 17:3469277:CAATA:C | donor_loss | 1.0000 |
| 17:3469278:AATAC:A | donor_loss | 1.0000 |
| 17:3469279:ATACC:A | donor_loss | 1.0000 |
| 17:3469280:TA:T | donor_loss | 1.0000 |
| 17:3469281:A:AG | donor_loss | 1.0000 |
| 17:3469282:C:A | donor_loss | 1.0000 |
| 17:3469282:CCTG:C | donor_gain | 1.0000 |
| 17:3469396:GACC:G | acceptor_loss | 1.0000 |
| 17:3469397:ACC:A | acceptor_loss | 1.0000 |
| 17:3469399:C:CG | acceptor_loss | 1.0000 |
| 17:3474172:AAGG:A | donor_loss | 1.0000 |
| 17:3474174:GGTA:G | donor_loss | 1.0000 |
| 17:3474175:GTA:G | donor_loss | 1.0000 |
| 17:3475834:ATT:A | donor_gain | 1.0000 |
| 17:3481762:G:GT | donor_gain | 1.0000 |
| 17:3489341:AGG:A | donor_loss | 1.0000 |
| 17:3489343:G:A | donor_loss | 1.0000 |
| 17:3489344:TAA:T | donor_loss | 1.0000 |
| 17:3446601:CCTTT:C | acceptor_gain | 0.9900 |
| 17:3446605:T:TC | acceptor_gain | 0.9900 |
| 17:3449150:C:CC | acceptor_gain | 0.9900 |
| 17:3467422:TTA:T | donor_loss | 0.9900 |
| 17:3467423:TACCT:T | donor_loss | 0.9900 |
| 17:3467424:ACC:A | donor_loss | 0.9900 |
| 17:3467425:CCT:C | donor_loss | 0.9900 |
| 17:3467551:CAGC:C | acceptor_gain | 0.9900 |
| 17:3467553:GCC:G | acceptor_loss | 0.9900 |
| 17:3467556:T:C | acceptor_loss | 0.9900 |
| 17:3468830:G:C | donor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000039541 (17:3475277 A>G), RS1000059047 (17:3453031 G>A,C), RS1000067615 (17:3468943 G>A), RS1000099953 (17:3469192 T>C), RS1000226849 (17:3444868 A>T), RS1000235126 (17:3510976 T>A), RS1000254278 (17:3493803 A>T), RS1000320439 (17:3460478 T>A), RS1000360851 (17:3513127 A>C), RS1000364486 (17:3501767 A>G), RS1000412151 (17:3474852 T>C), RS1000420815 (17:3451712 G>A), RS1000453602 (17:3452320 G>A), RS1000470293 (17:3465585 G>A), RS1000478747 (17:3499296 G>A)
Disease associations
OMIM: gene MIM:617673 | disease phenotypes: MIM:271900, MIM:616400, MIM:621001, MIM:621002
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| infertility disorder | Moderate | Autosomal recessive |
| genetic infertility | Moderate | Autosomal recessive |
Mondo (6): Canavan disease (MONDO:0010079), isolated focal non-epidermolytic palmoplantar keratoderma (MONDO:0014622), spermatogenic failure 96 (MONDO:0975842), premature ovarian failure 25 (MONDO:0975843), infertility disorder (MONDO:0005047), (MONDO:0017143)
Orphanet (2): Canavan disease (Orphanet:141), Isolated focal non-epidermolytic palmoplantar keratoderma (Orphanet:448264)
HPO phenotypes
14 total (14 of 14 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000858 | Irregular menstruation |
| HP:0002960 | Autoimmunity |
| HP:0003251 | Male infertility |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0008222 | Female infertility |
| HP:0008232 | Elevated circulating follicle stimulating hormone level |
| HP:0011462 | Young adult onset |
| HP:0011961 | Non-obstructive azoospermia |
| HP:0030087 | Abnormal circulating testosterone concentration |
| HP:0030338 | Abnormal circulating gonadotropin concentration |
| HP:0031039 | Spermatocyte maturation arrest |
| HP:0031103 | Decreased circulating antimullerian hormone circulation |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009178_11 | Caudal middle frontal gyrus volume | 6.000000e-06 |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D017825 | Canavan Disease | C10.228.140.163.100.362.375; C10.228.140.695.625.375; C10.314.400.375; C10.574.500.300; C16.320.400.150; C16.320.565.189.362.375; C18.452.132.100.362.375; C18.452.648.189.362.375 |
| D007246 | Infertility | C12.100.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression, increases methylation | 5 |
| trichostatin A | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Clinical trials (associated diseases)
114 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01388907 | PHASE4 | COMPLETED | Efficacity Assessment of PREVADH® in Adhesion Prevention in Gynaecologic Surgery |
| NCT01430650 | PHASE4 | COMPLETED | Endometrial Priming for Embryo Transfer |
| NCT02607319 | PHASE4 | COMPLETED | Low Molecular Weight Heparin to Improve Pregnancy Outcome in Patients With Recurrent Implantation Failure |
| NCT03169166 | PHASE4 | COMPLETED | The Use of GnRH Agonist Trigger for Final Follicle Maturation in Women Undergoing Assisted Reproductive Technologies |
| NCT03177122 | PHASE4 | UNKNOWN | Myo-Inositol- Based Co-treatment in Women With PCOS Undergoing Assisted Reproductive Technology |
| NCT03477929 | PHASE4 | UNKNOWN | Cetrorelix and Ganirelix Flexible Protocol for (IVF) |
| NCT03619707 | PHASE4 | COMPLETED | Oral Versus Vaginal Progesterone in the Luteal Support in Cryo-warmed Embryo Transfer Cycles |
| NCT03846544 | PHASE4 | COMPLETED | Double Pick up in Poor Prognosis Women |
| NCT05725512 | PHASE4 | RECRUITING | Prednisolone Administration in Patients With Unexplained REcurrent MIscarriages |
| NCT06195163 | PHASE4 | NOT_YET_RECRUITING | TRAP Study: Testosterone for Androgen Receptor Polymorphism |
| NCT06763926 | PHASE4 | NOT_YET_RECRUITING | Intranasal Nafarelin For Triggering Oocyte Maturation |
| NCT00749853 | PHASE3 | SUSPENDED | Efficacy of Ovarian Stimulation Based on FSHR Genotype Status |
| NCT03238092 | PHASE3 | UNKNOWN | Comparison Between Testosterone and Estradiol Over the Homogenization of Follicular Cohort |
| NCT03803228 | PHASE3 | COMPLETED | Dual Ovarian Stimulation (DUOSTIM) for Poor Ovarian Responders |
| NCT04701034 | PHASE2 | COMPLETED | Intravenous Immunoglobulin and Prednisolone for RPL After ART. |
| NCT04850261 | PHASE2 | WITHDRAWN | Injection Free IVF |
| NCT06997900 | PHASE2 | RECRUITING | Menopur And Rekovelle Combination Study Version 2.0 |
| NCT00657748 | PHASE2 | WITHDRAWN | Lithium and Acetate for Canavan Disease |
| NCT01330771 | Not specified | COMPLETED | Assessment of the Therapeutic Utility of r-FSH in Association With hMG-HP |
| NCT01330784 | Not specified | COMPLETED | Assessment of the Therapeutic Utility of hMG-HP |
| NCT01331720 | Not specified | COMPLETED | Assessment of the Effectiveness and Tolerability of Ovarian Hyperstimulation |
| NCT01331733 | Not specified | COMPLETED | Comparative Assessment of the Clinical Utility of Ovarian Stimulation With Menotropin Versus Menotropin Plus GnRH Antagonist |
| NCT01406964 | Not specified | COMPLETED | Chlamidia Antibodies Test for Tubal Factor Screening |
| NCT01533350 | Not specified | COMPLETED | Receptivity Assessment of Homogeneous Endometrium in Late Follicle Phase |
| NCT01955356 | Not specified | COMPLETED | Embryo Implantation After Induced Endometrial Injury |
| NCT02081924 | Not specified | RECRUITING | Reproductive Hormones During Sustained Administration of Kisspeptin |
| NCT02648555 | Not specified | UNKNOWN | A Lifestyle Intervention to Improve in Vitro Fertilization Results |
| NCT03007043 | Not specified | COMPLETED | Genetic Variation in Gonadotropin and Gonadotropin Receptor Genes and Suboptimal Response |
| NCT03023774 | Not specified | COMPLETED | Use of Gcsf in Patients With Recurrent Ivf/Icsi Failure |
| NCT03065114 | Not specified | COMPLETED | Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo Stage |
| NCT03085212 | Not specified | ACTIVE_NOT_RECRUITING | Strategies for Pregnancy Achievement |
| NCT03085433 | Not specified | COMPLETED | Sperm Selection by Microfluidic Separation Improves Embryo Quality |
| NCT03118219 | Not specified | COMPLETED | Positive Adjustment Coping Intervention |
| NCT03156374 | Not specified | COMPLETED | Timing Frozen Embryo Transfer by Following Two Different Methods |
| NCT03161873 | Not specified | COMPLETED | Cycle and Pregnancy Monitoring With Wearable Sensor Technology (AVA) |
| NCT03173404 | Not specified | COMPLETED | Benefits of Hysteroscopy Prior to Performing a Cycle of in Vitro Fertilization/Intracytoplasmic Sperm Injection |
| NCT03180827 | Not specified | ACTIVE_NOT_RECRUITING | Female Fertility Preservation Using Ovarian Tissue Cryopreservation Before Highly Gonadotoxic Cancer Treatment |
| NCT03180918 | Not specified | RECRUITING | Male Fertility Preservation Using Cryopreservation of Testicular Tissue Before Highly Gonadotoxic Cancer Treatment |
| NCT03250195 | Not specified | TERMINATED | Non-invasive Detection of Male Infertility With FDG-PET/MRI (Spectroscopy and DWI) |
| NCT03269916 | Not specified | UNKNOWN | Fertility and Ovarian Reserve Function in the Patient With Inflammatory Bowel Disease |
Related Atlas pages
- Associated diseases: infertility disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Canavan disease, infertility disorder, isolated focal non-epidermolytic palmoplantar keratoderma, premature ovarian failure 25, spermatogenic failure 96