ACTL7A
gene geneOn this page
Summary
ACTL7A (actin like 7A, HGNC:161) is a protein-coding gene on chromosome 9q31.3, encoding Actin-like protein 7A (Q9Y615). Essential for normal spermatogenesis and male fertility.
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known.
Source: NCBI Gene 10881 — RefSeq curated summary.
At a glance
- Gene–disease (curated): male infertility (Limited, GenCC)
- GWAS associations: 5
- Clinical variants (ClinVar): 86 total — 6 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 7
- MANE Select transcript:
NM_006687
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:161 |
| Approved symbol | ACTL7A |
| Name | actin like 7A |
| Location | 9q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000187003 |
| Ensembl biotype | protein_coding |
| OMIM | 604303 |
| Entrez | 10881 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000333999
RefSeq mRNA: 1 — MANE Select: NM_006687
NM_006687
CCDS: CCDS6772
Canonical transcript exons
ENST00000333999 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001332350 | 108862266 | 108863756 |
Expression profiles
Bgee: expression breadth broad, 62 present calls, max score 97.88.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3073 / max 272.9064, expressed in 4 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 97927 | 0.2669 | 3 |
| 97926 | 0.0138 | 3 |
| 97929 | 0.0127 | 4 |
| 97928 | 0.0079 | 3 |
| 97925 | 0.0060 | 3 |
Top tissues by expression
232 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 97.88 | gold quality |
| right testis | UBERON:0004534 | 97.73 | gold quality |
| testis | UBERON:0000473 | 94.73 | gold quality |
| sperm | CL:0000019 | 90.54 | gold quality |
| male germ cell | CL:0000015 | 89.34 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.07 | gold quality |
| adult organism | UBERON:0007023 | 84.90 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 68.89 | gold quality |
| triceps brachii | UBERON:0001509 | 64.77 | gold quality |
| gluteal muscle | UBERON:0002000 | 64.42 | gold quality |
| biceps brachii | UBERON:0001507 | 63.72 | gold quality |
| heart right ventricle | UBERON:0002080 | 63.42 | gold quality |
| diaphragm | UBERON:0001103 | 62.45 | gold quality |
| vastus lateralis | UBERON:0001379 | 59.86 | gold quality |
| quadriceps femoris | UBERON:0001377 | 59.62 | gold quality |
| deltoid | UBERON:0001476 | 56.04 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 52.74 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 52.47 | gold quality |
| muscle tissue | UBERON:0002385 | 50.83 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 50.16 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| hair follicle | UBERON:0002073 | 49.18 | gold quality |
| myocardium | UBERON:0002349 | 49.17 | gold quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| cervix epithelium | UBERON:0004801 | 48.89 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 48.55 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 48.50 | gold quality |
| thymus | UBERON:0002370 | 48.48 | gold quality |
| oviduct epithelium | UBERON:0004804 | 48.45 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 32.45 |
| E-ANND-3 | no | 0.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
10 targeting ACTL7A, 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-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-6743-5P | 99.48 | 63.60 | 721 |
| HSA-MIR-155-5P | 99.35 | 70.16 | 1509 |
| HSA-MIR-548V | 99.29 | 69.47 | 1157 |
| HSA-MIR-3945 | 98.68 | 64.21 | 553 |
| HSA-MIR-5194 | 96.77 | 63.91 | 1021 |
| HSA-MIR-6738-5P | 96.33 | 63.61 | 815 |
| HSA-MIR-6734-5P | 95.70 | 65.56 | 950 |
| HSA-MIR-1914-3P | 95.07 | 63.37 | 762 |
Literature-anchored findings (GeneRIF, showing 7)
- The researchers found the 9q31 region is associated with adult height variation. (PMID:18720898)
- Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A. (PMID:21278383)
- Anti-ACTL7a antibodies may cause infertility in mice because the in vitro treatment of mouse spermatozoa with ACTL7a antibody-containing serum markedly reduced the fertilizing potential of the spermatozoa. (PMID:22386842)
- A novel homozygous mutation in ACTL7A leads to male infertility. (PMID:36574082)
- Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure. (PMID:36593593)
- Testis-specific actin-like 7A (ACTL7A) is an indispensable protein for subacrosomal-associated F-actin formation, acrosomal anchoring, and male fertility. (PMID:36734600)
- A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns. (PMID:37286336)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Actl7a | ENSMUSG00000070979 |
| rattus_norvegicus | Actl7a | ENSRNOG00000016641 |
Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTL8 (ENSG00000117148), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTRT2 (ENSG00000169717), ACTL9 (ENSG00000181786), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL10 (ENSG00000288649)
Protein
Protein identifiers
Actin-like protein 7A — Q9Y615 (reviewed: Q9Y615)
Alternative names: Actin-like-7-alpha
All UniProt accessions (2): A0A140VK03, Q9Y615
UniProt curated annotations — full annotation on UniProt →
Function. Essential for normal spermatogenesis and male fertility. Required for normal sperm head morphology, acroplaxome formation, acrosome attachment, and acrosome granule stability. May anchor and stabilize acrosomal adherence to the acroplaxome at least in part by facilitating the presence of F-actin in the subacrosomal space. May play an important role in formation and fusion of Golgi-derived vesicles during acrosome biogenesis.
Subunit / interactions. Interacts (via N-terminus) with TES (via LIM domain 2). Heterodimer with TES; the heterodimer interacts with ENAH to form a heterotrimer. Interacts with ACTL9. Interacts with CYLC1; the interaction may be relevant for proper acrosome attachment to the nuclear envelope.
Subcellular location. Cytoplasm. Cytoskeleton. Golgi apparatus. Nucleus. Cytoplasmic vesicle. Secretory vesicle. Acrosome.
Tissue specificity. Strongly expressed in testis. Also expressed in other tissues.
Disease relevance. Spermatogenic failure 86 (SPGF86) [MIM:620499] An autosomal recessive male infertility disorder characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the actin family.
RefSeq proteins (1): NP_006678* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004000 | Actin | Family |
| IPR031769 | ACTL7A_N | Domain |
| IPR043129 | ATPase_NBD | Homologous_superfamily |
Pfam: PF00022, PF16840
UniProt features (17 total): sequence variant 9, region of interest 2, mutagenesis site 2, compositionally biased region 2, chain 1, strand 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2XQN | X-RAY DIFFRACTION | 2.62 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y615-F1 | 84.81 | 0.72 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 31 | abolishes interaction with tes. |
| 41 | abolishes interaction with tes. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 75 (showing top):
GOBP_SINGLE_FERTILIZATION, GOCC_SECRETORY_GRANULE, GOBP_VESICLE_ORGANIZATION, GOBP_MALE_GAMETE_GENERATION, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_ACROSOME_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GNF2_CCNA1, TGACATY_UNKNOWN, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_FERTILIZATION, GOCC_SECRETORY_VESICLE
GO Biological Process (7): acrosome assembly (GO:0001675), spermatid development (GO:0007286), single fertilization (GO:0007338), fertilization (GO:0009566), cytoskeleton organization (GO:0007010), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)
GO Molecular Function (2): structural constituent of cytoskeleton (GO:0005200), protein binding (GO:0005515)
GO Cellular Component (9): acrosomal vesicle (GO:0001669), male germ cell nucleus (GO:0001673), nucleus (GO:0005634), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytoskeleton (GO:0005856), motile cilium (GO:0031514), protein-containing complex (GO:0032991), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| developmental process involved in reproduction | 2 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| spermatid development | 1 |
| cellular component assembly involved in morphogenesis | 1 |
| cellular process involved in reproduction in multicellular organism | 1 |
| secretory granule organization | 1 |
| organelle assembly | 1 |
| germ cell development | 1 |
| spermatid differentiation | 1 |
| fertilization | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| organelle organization | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| structural molecule activity | 1 |
| cytoskeleton | 1 |
| cytoskeleton organization | 1 |
| binding | 1 |
| secretory granule | 1 |
| germ cell nucleus | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membraneless organelle | 1 |
| cilium | 1 |
| cellular_component | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
1852 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACTL7A | CTNNAL1 | Q9UBT7 | 950 |
| ACTL7A | PLCZ1 | Q86YW0 | 584 |
| ACTL7A | CGB2 | Q6NT52 | 507 |
| ACTL7A | ODF4 | Q2M2E3 | 476 |
| ACTL7A | SPATA46 | Q5T0L3 | 458 |
| ACTL7A | DNAL4 | O96015 | 426 |
| ACTL7A | MAGEB4 | O15481 | 419 |
| ACTL7A | SPACA1 | Q9HBV2 | 418 |
| ACTL7A | TSGA10 | Q9BZW7 | 390 |
| ACTL7A | RAD23B | P54727 | 366 |
| ACTL7A | RGPD5 | Q99666 | 363 |
| ACTL7A | OXCT2 | Q9BYC2 | 356 |
| ACTL7A | CAPZA3 | Q96KX2 | 353 |
| ACTL7A | ELP1 | O95163 | 351 |
| ACTL7A | ABITRAM | Q9NX38 | 345 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TES | ACTL7A | psi-mi:“MI:0915”(physical association) | 0.670 |
| TES | ACTL7A | psi-mi:“MI:0407”(direct interaction) | 0.670 |
| TES | ENAH | psi-mi:“MI:0915”(physical association) | 0.540 |
| ACTL7A | ENAH | psi-mi:“MI:0915”(physical association) | 0.400 |
| CFTR | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (5): ACTL7A (Reconstituted Complex), TES (Far Western), ACTL7A (Affinity Capture-MS), ACTL7A (Affinity Capture-MS), APP (Reconstituted Complex)
ESM2 similar proteins: A0JNU3, A2AKE7, A6H603, A6QQ74, D3ZBP4, F1MH07, O43542, Q149M9, Q2T9W4, Q2TA43, Q2V057, Q32KZ2, Q32L91, Q3ZBE0, Q49HH9, Q49KI5, Q4QR76, Q4R317, Q4R6Q3, Q4R821, Q5JWF8, Q5REQ1, Q5XIK1, Q641W9, Q643R3, Q68FW7, Q6AY16, Q6NVG1, Q76HM9, Q86U10, Q8CG27, Q8K4F6, Q8TC94, Q8TDG2, Q8TDY3, Q8TDZ2, Q8VCZ9, Q8VDP3, Q8VEI3, Q95JK8
Diamond homologs: A2AKE7, A2BDB0, A3C6D7, O17320, O18840, O65314, O93400, P02572, P02576, P02578, P07828, P07829, P07830, P0C539, P10984, P10995, P12432, P12433, P12716, P18602, P20904, P29751, P30163, P41339, P41341, P43239, P45520, P48975, P49055, P49128, P53458, P53459, P53465, P53470, P53471, P53472, P53477, P53478, P53479, P53498
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
86 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 2 |
| Uncertain significance | 74 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (8)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1343822 | NM_006687.4(ACTL7A):c.149_150del (p.Glu50fs) | Pathogenic |
| 2577999 | NM_006687.4(ACTL7A):c.733G>A (p.Ala245Thr) | Pathogenic |
| 2578000 | NM_006687.4(ACTL7A):c.463C>T (p.Arg155Ter) | Pathogenic |
| 2578001 | NM_006687.4(ACTL7A):c.1084G>A (p.Gly362Arg) | Pathogenic |
| 2578002 | NM_006687.4(ACTL7A):c.146C>G (p.Ser49Ter) | Pathogenic |
| 2578003 | NM_006687.4(ACTL7A):c.737G>C (p.Gly246Ala) | Pathogenic |
| 3382161 | NM_006687.4(ACTL7A):c.1204G>A (p.Gly402Ser) | Likely pathogenic |
| 4849322 | NM_006687.4(ACTL7A):c.1118G>A (p.Arg373His) | Likely pathogenic |
SpliceAI
81 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:108863451:GAGC:G | donor_gain | 0.7500 |
| 9:108863263:A:T | donor_gain | 0.7200 |
| 9:108863454:C:G | donor_gain | 0.7100 |
| 9:108863592:G:T | acceptor_gain | 0.5900 |
| 9:108863615:CAGA:C | acceptor_gain | 0.5800 |
| 9:108863616:AGAA:A | acceptor_gain | 0.5800 |
| 9:108863617:GAAG:G | acceptor_gain | 0.5800 |
| 9:108863319:C:G | donor_gain | 0.5700 |
| 9:108863206:G:GG | donor_gain | 0.5500 |
| 9:108863240:G:GT | donor_gain | 0.5200 |
| 9:108863262:G:GT | donor_gain | 0.5100 |
| 9:108863193:A:T | donor_gain | 0.5000 |
| 9:108863569:G:A | acceptor_gain | 0.4900 |
| 9:108863482:CGCAG:C | donor_loss | 0.4700 |
| 9:108863484:CAG:C | donor_loss | 0.4700 |
| 9:108863485:AGGT:A | donor_loss | 0.4700 |
| 9:108863487:G:GC | donor_loss | 0.4700 |
| 9:108863488:T:C | donor_loss | 0.4700 |
| 9:108863489:A:C | donor_loss | 0.4600 |
| 9:108863240:G:T | donor_gain | 0.4300 |
| 9:108863205:A:AG | donor_gain | 0.4100 |
| 9:108863357:G:GG | donor_gain | 0.3900 |
| 9:108863211:C:T | donor_gain | 0.3800 |
| 9:108863356:A:AG | donor_gain | 0.3800 |
| 9:108863617:GAA:G | acceptor_gain | 0.3800 |
| 9:108863356:A:G | acceptor_gain | 0.3700 |
| 9:108863127:A:G | donor_gain | 0.3600 |
| 9:108862951:G:GT | donor_gain | 0.3400 |
| 9:108863222:C:G | donor_gain | 0.3400 |
| 9:108863568:T:TA | acceptor_gain | 0.3300 |
AlphaMissense
2852 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:108862963:G:A | G214D | 0.999 |
| 9:108863440:G:C | R373P | 0.999 |
| 9:108863520:T:A | W400R | 0.999 |
| 9:108863520:T:C | W400R | 0.999 |
| 9:108863527:G:A | G402D | 0.999 |
| 9:108862540:T:A | V73D | 0.998 |
| 9:108862845:A:C | S175R | 0.998 |
| 9:108862847:C:A | S175R | 0.998 |
| 9:108862847:C:G | S175R | 0.998 |
| 9:108862933:T:C | L204P | 0.998 |
| 9:108863005:C:A | P228H | 0.998 |
| 9:108863005:C:G | P228R | 0.998 |
| 9:108863407:G:A | G362E | 0.998 |
| 9:108863412:A:C | S364R | 0.998 |
| 9:108863414:C:A | S364R | 0.998 |
| 9:108863414:C:G | S364R | 0.998 |
| 9:108863443:T:C | L374P | 0.998 |
| 9:108863455:T:C | L378P | 0.998 |
| 9:108863530:G:A | G403D | 0.998 |
| 9:108863542:C:A | A407D | 0.998 |
| 9:108863556:T:C | F412L | 0.998 |
| 9:108863558:C:A | F412L | 0.998 |
| 9:108863558:C:G | F412L | 0.998 |
| 9:108862749:T:A | W143R | 0.997 |
| 9:108862749:T:C | W143R | 0.997 |
| 9:108862862:A:C | R180S | 0.997 |
| 9:108862862:A:T | R180S | 0.997 |
| 9:108862962:G:C | G214R | 0.997 |
| 9:108862966:T:C | L215P | 0.997 |
| 9:108863016:G:C | G232R | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000897833 (9:108861274 C>T), RS1001273165 (9:108861928 T>C), RS1001934172 (9:108863732 T>G), RS1003169039 (9:108863758 A>G), RS1004886546 (9:108863300 T>C), RS1005712718 (9:108860592 GA>G,GAA), RS1006295720 (9:108860515 G>A,C), RS1007402806 (9:108860623 C>A), RS1007517329 (9:108860940 A>C), RS1008473318 (9:108864098 C>T), RS1009064437 (9:108863016 G>A), RS1012914884 (9:108861221 AAAG>A), RS1013138506 (9:108864081 T>C), RS1014178264 (9:108862619 G>A), RS1014333566 (9:108862255 G>A)
Disease associations
OMIM: gene MIM:604303 | disease phenotypes: MIM:620499
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| male infertility | Limited | Autosomal recessive |
Mondo (2): spermatogenic failure 86 (MONDO:0957593), male infertility (MONDO:0005372)
Orphanet (0):
HPO phenotypes
7 total (7 of 7 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003251 | Male infertility |
| HP:0011462 | Young adult onset |
| HP:0012865 | Abnormal sperm head morphology |
| HP:0012869 | Acephalic spermatozoa |
| HP:0034913 | Acrosomal hypoplasia |
| HP:6000501 | Ruffled acrosome |
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000952_9 | Breast cancer | 2.000000e-10 |
| GCST005024_2 | Pursuit maintenance gain | 1.000000e-07 |
| GCST005028_11 | Pursuit maintenance gain in psychotic disorders | 4.000000e-07 |
| GCST009391_1549 | Metabolite levels | 3.000000e-07 |
| GCST009391_1558 | Metabolite levels | 4.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0009776 | ornithine 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
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| bisphenol A | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| tebuconazole | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Folic Acid | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Toluene | decreases methylation, increases expression | 1 |
| Valproic Acid | increases 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
- Associated diseases: male infertility
- 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 86