FBXO43
geneOn this page
Also known as Fbx43
Summary
FBXO43 (F-box protein 43, HGNC:28521) is a protein-coding gene on chromosome 8q22.2, encoding F-box only protein 43 (Q4G163). Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization.
Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).
Source: NCBI Gene 286151 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 64 (Limited, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 106 total — 4 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 15
- MANE Select transcript:
NM_001029860
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28521 |
| Approved symbol | FBXO43 |
| Name | F-box protein 43 |
| Location | 8q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Fbx43 |
| Ensembl gene | ENSG00000156509 |
| Ensembl biotype | protein_coding |
| OMIM | 609110 |
| Entrez | 286151 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 1 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000428847, ENST00000517806, ENST00000520987
RefSeq mRNA: 1 — MANE Select: NM_001029860
NM_001029860
CCDS: CCDS47904
Canonical transcript exons
ENST00000428847 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002094631 | 100145051 | 100145817 |
| ENSE00002126706 | 100133351 | 100134050 |
| ENSE00003478744 | 100140683 | 100142168 |
| ENSE00003528195 | 100137565 | 100137667 |
| ENSE00003560327 | 100134161 | 100134364 |
Expression profiles
Bgee: expression breadth ubiquitous, 127 present calls, max score 95.79.
FANTOM5 (CAGE): breadth broad, TPM avg 0.8627 / max 61.3525, expressed in 406 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 94122 | 0.8627 | 406 |
Top tissues by expression
234 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 95.79 | gold quality |
| oocyte | CL:0000023 | 94.67 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.04 | gold quality |
| ventricular zone | UBERON:0003053 | 75.22 | gold quality |
| sperm | CL:0000019 | 72.24 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 71.61 | gold quality |
| right testis | UBERON:0004534 | 71.58 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 71.49 | gold quality |
| testis | UBERON:0000473 | 71.19 | gold quality |
| left testis | UBERON:0004533 | 71.03 | gold quality |
| ganglionic eminence | UBERON:0004023 | 70.65 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 69.59 | gold quality |
| upper arm skin | UBERON:0004263 | 69.15 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 67.43 | gold quality |
| myocardium | UBERON:0002349 | 67.27 | gold quality |
| adult organism | UBERON:0007023 | 67.16 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 66.26 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 65.87 | gold quality |
| thymus | UBERON:0002370 | 65.02 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 64.69 | silver quality |
| stromal cell of endometrium | CL:0002255 | 64.67 | gold quality |
| quadriceps femoris | UBERON:0001377 | 63.81 | gold quality |
| vastus lateralis | UBERON:0001379 | 63.39 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 62.69 | gold quality |
| colonic epithelium | UBERON:0000397 | 62.59 | gold quality |
| bone marrow | UBERON:0002371 | 61.76 | gold quality |
| cartilage tissue | UBERON:0002418 | 61.70 | gold quality |
| pancreatic ductal cell | CL:0002079 | 61.50 | silver quality |
| gingival epithelium | UBERON:0001949 | 61.42 | gold quality |
| lymph node | UBERON:0000029 | 60.93 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.21 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1, E2F2, E2F3
miRNA regulators (miRDB)
61 targeting FBXO43, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
Literature-anchored findings (GeneRIF, showing 9)
- Cdc2 and Mos regulate Emi2 stability to promote the meiosis I-meiosis II transition (PMID:18550795)
- The mutation in FBXO43 is a causative factor of male infertility and teratozoospermia. (PMID:30878252)
- EMI2 expression as a poor prognostic factor in patients with breast cancer. (PMID:32253818)
- FBXO43 variants in patients with female infertility characterized by early embryonic arrest. (PMID:34052850)
- A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia. (PMID:34595750)
- Downregulation of the FBXO43 gene inhibits tumor growth in human breast cancer by limiting its interaction with PCNA. (PMID:34645483)
- Association between F-box-only protein 43 overexpression and hepatocellular carcinoma pathogenesis and prognosis. (PMID:36710413)
- Clinical significance of FBXO43 in hepatocellular carcinoma and its impact on tumor cell proliferation, migration and invasion. (PMID:37250703)
- FBXO43 promotes cell cycle progression in cancer cells through stabilizing SKP2. (PMID:38604312)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fbxo43 | ENSDARG00000104186 |
| mus_musculus | Fbxo43 | ENSMUSG00000048230 |
| rattus_norvegicus | Fbxo43 | ENSRNOG00000010459 |
| drosophila_melanogaster | Rca1 | FBGN0017551 |
Paralogs (1): FBXO5 (ENSG00000112029)
Protein
Protein identifiers
F-box only protein 43 — Q4G163 (reviewed: Q4G163)
Alternative names: Endogenous meiotic inhibitor 2
All UniProt accessions (2): Q4G163, E5RHI5
UniProt curated annotations — full annotation on UniProt →
Function. Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Plays a vital role in modulating the ubiquitilation of CCNB1 and CDK1 during gametogenesis.
Subunit / interactions. Part of a SCF (SKP1-cullin-F-box) protein ligase complex. According to PubMed:34595750 interaction with SKP1 does not occur. Interacts with ANAPC2; the interaction is direct, ANAPC4, CDC16, CDC23; the interaction is direct, ANAPC10; the interaction is direct and CDC26, during spermatogenesis. May interact with CDC20.
Tissue specificity. Expressed in the testis.
Post-translational modifications. Phosphorylated on Ser-76, Thr-234 and Ser-334 in response to calcium, which is a prerequisite for ubiquitination and proteasomal degradation. Ubiquitinated in response to calcium, which promotes proteasomal degradation.
Disease relevance. Oocyte/zygote/embryo maturation arrest 12 (OZEMA12) [MIM:619697] An autosomal recessive disorder characterized by infertility due to early embryonic arrest. The disease is caused by variants affecting the gene represented in this entry. Spermatogenic failure 64 (SPGF64) [MIM:619696] An autosomal recessive male infertility disorder characterized by oligoasthenoteratozoospermia or non-obstructive azoospermia. Some patients have absent sperm due to meiotic arrest at the diplotene stage. Others show low sperm counts and reduced progressive motility. The disease is caused by variants affecting the gene represented in this entry.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (1): NP_001025031* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001810 | F-box_dom | Domain |
| IPR002867 | IBR_dom | Domain |
| IPR044064 | ZF_ZBR | Domain |
| IPR047147 | FBX5_43 | Family |
Pfam: PF00646
UniProt features (30 total): binding site 8, sequence variant 8, modified residue 3, region of interest 3, compositionally biased region 3, mutagenesis site 2, chain 1, domain 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q4G163-F1 | 52.85 | 0.14 |
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 (8): 643; 658; 663; 668; 671; 676; 681; 640
Post-translational modifications (3): 76, 234, 334
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 75–76 | impairs ubiquitination and degradation in response to calcium. |
| 333–334 | impairs ubiquitination and degradation in response to calcium. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 141 (showing top):
GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_REGULATION_OF_MEIOTIC_NUCLEAR_DIVISION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_MEIOTIC_NUCLEAR_DIVISION, GOBP_REGULATION_OF_MEIOTIC_CELL_CYCLE, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_RESPONSE_TO_NERVE_GROWTH_FACTOR, CATTTCA_MIR203, GOBP_NEGATIVE_REGULATION_OF_MEIOTIC_CELL_CYCLE, GOBP_ORGANELLE_FISSION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_MITOTIC_NUCLEAR_DIVISION
GO Biological Process (6): regulation of mitotic nuclear division (GO:0007088), negative regulation of cell cycle process (GO:0010948), protein ubiquitination (GO:0016567), negative regulation of meiotic nuclear division (GO:0045835), meiotic cell cycle (GO:0051321), cellular response to nerve growth factor stimulus (GO:1990090)
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of cell cycle process | 2 |
| meiotic nuclear division | 2 |
| regulation of mitotic cell cycle | 1 |
| regulation of nuclear division | 1 |
| mitotic nuclear division | 1 |
| cell cycle process | 1 |
| negative regulation of cell cycle | 1 |
| protein modification by small protein conjugation | 1 |
| negative regulation of cell cycle process | 1 |
| regulation of meiotic nuclear division | 1 |
| negative regulation of meiotic cell cycle | 1 |
| negative regulation of nuclear division | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| cellular response to growth factor stimulus | 1 |
| response to nerve growth factor | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1796 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBXO43 | CDC20 | Q12834 | 803 |
| FBXO43 | GMNN | O75496 | 683 |
| FBXO43 | SKP1 | P34991 | 605 |
| FBXO43 | CCNA1 | P78396 | 595 |
| FBXO43 | EVI5 | O60447 | 594 |
| FBXO43 | PLK1 | P53350 | 584 |
| FBXO43 | BTRC | Q9Y297 | 580 |
| FBXO43 | RPS6KA1 | Q15418 | 579 |
| FBXO43 | CCNF | P41002 | 571 |
| FBXO43 | WEE2 | P0C1S8 | 569 |
| FBXO43 | FBXO47 | Q5MNV8 | 563 |
| FBXO43 | PTTG2 | Q9NZH5 | 543 |
| FBXO43 | ANAPC10 | Q9UM13 | 507 |
| FBXO43 | ZFP36 | P26651 | 485 |
| FBXO43 | PTTG1 | O95997 | 476 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SKP1 | FBXO43 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP2R1A | FBXO43 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FBXO43 | SLC25A12 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SKP1 | FBXO43 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PPP2R1A | FBXO43 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (84): CDC27 (Affinity Capture-Western), FBXO43 (Affinity Capture-Western), FBXO43 (Affinity Capture-MS), FBXO43 (Two-hybrid), FBXO43 (Two-hybrid), FBXO43 (Proximity Label-MS), NAMPT (Affinity Capture-MS), EZR (Affinity Capture-MS), ACTN4 (Affinity Capture-MS), VCP (Affinity Capture-MS), FDPS (Affinity Capture-MS), CD44 (Affinity Capture-MS), ADRM1 (Affinity Capture-MS), CDC37 (Affinity Capture-MS), DLST (Affinity Capture-MS)
ESM2 similar proteins: A0JM98, A1L1H3, A4IGY9, A5D7P0, A5PLL1, A7MBD1, B2RWW0, D3ZF42, O75113, O88866, P12525, P30304, P30305, P30306, P30307, P30308, P30309, P30310, P30311, P48964, P48965, P48966, P48967, P48968, P57058, Q29029, Q4G163, Q56NI9, Q5QJC4, Q5SW75, Q66JT0, Q68UT7, Q6GQJ2, Q6IE82, Q6P1H6, Q6PCM1, Q6PJP8, Q6S7F2, Q6YI93, Q76I76
Diamond homologs: Q0V967, Q28GK6, Q4G163, Q4V7W2, Q66H04, Q7TSG3, Q8AXF4, Q8CDI2, Q90Z80, Q9UKT4
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CAMK2G | “down-regulates activity” | FBXO43 | phosphorylation |
| CAMK2A | “up-regulates activity” | FBXO43 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
106 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 1 |
| Uncertain significance | 80 |
| Likely benign | 11 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1332891 | NM_001029860.4(FBXO43):c.1991G>A (p.Gly664Asp) | Pathogenic |
| 1332892 | NM_001029860.4(FBXO43):c.1747C>T (p.Gln583Ter) | Pathogenic |
| 1332893 | NM_001029860.4(FBXO43):c.1490_1497dup (p.Glu500delinsSerTer) | Pathogenic |
| 1332894 | NM_001029860.4(FBXO43):c.154del (p.Asp52fs) | Pathogenic |
| 4526317 | GRCh38/hg38 8q22.2(chr8:100138992-100172318)x1 | Likely pathogenic |
SpliceAI
1178 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:100136145:T:TA | donor_gain | 1.0000 |
| 8:100137666:CA:C | acceptor_gain | 1.0000 |
| 8:100137668:C:CC | acceptor_gain | 1.0000 |
| 8:100139509:CTAA:C | donor_gain | 1.0000 |
| 8:100139515:T:TA | donor_gain | 1.0000 |
| 8:100137559:CATTA:C | donor_gain | 0.9900 |
| 8:100137664:AACA:A | acceptor_gain | 0.9900 |
| 8:100137667:AC:A | acceptor_loss | 0.9900 |
| 8:100137669:T:G | acceptor_loss | 0.9900 |
| 8:100139508:A:AC | donor_gain | 0.9900 |
| 8:100139509:C:CC | donor_gain | 0.9900 |
| 8:100139512:A:AC | donor_gain | 0.9900 |
| 8:100139513:C:CC | donor_gain | 0.9900 |
| 8:100139516:C:A | donor_gain | 0.9900 |
| 8:100137558:A:AC | donor_gain | 0.9800 |
| 8:100137559:C:CC | donor_gain | 0.9800 |
| 8:100137560:ATTAC:A | donor_loss | 0.9800 |
| 8:100137561:TTACC:T | donor_loss | 0.9800 |
| 8:100137562:TA:T | donor_loss | 0.9800 |
| 8:100137563:A:AT | donor_loss | 0.9800 |
| 8:100137564:C:A | donor_loss | 0.9800 |
| 8:100137663:AAACA:A | acceptor_gain | 0.9800 |
| 8:100137665:ACA:A | acceptor_gain | 0.9800 |
| 8:100137666:CAC:C | acceptor_gain | 0.9800 |
| 8:100145316:T:C | donor_gain | 0.9800 |
| 8:100145320:AATAT:A | donor_gain | 0.9800 |
| 8:100145363:T:TA | donor_gain | 0.9800 |
| 8:100145364:C:A | donor_gain | 0.9800 |
| 8:100134362:CCC:C | acceptor_gain | 0.9700 |
| 8:100134363:CCC:C | acceptor_gain | 0.9700 |
AlphaMissense
4658 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:100133957:A:G | C658R | 0.998 |
| 8:100133989:G:T | A647D | 0.998 |
| 8:100134011:A:G | C640R | 0.998 |
| 8:100137645:A:G | W532R | 0.998 |
| 8:100137645:A:T | W532R | 0.998 |
| 8:100133928:A:C | F667L | 0.997 |
| 8:100133928:A:T | F667L | 0.997 |
| 8:100133930:A:G | F667L | 0.997 |
| 8:100133927:A:G | C668R | 0.996 |
| 8:100133955:A:C | C658W | 0.996 |
| 8:100133956:C:G | C658S | 0.996 |
| 8:100133957:A:T | C658S | 0.996 |
| 8:100134002:A:G | C643R | 0.996 |
| 8:100134046:G:T | A628D | 0.996 |
| 8:100140752:A:G | L501S | 0.996 |
| 8:100133918:A:G | C671R | 0.995 |
| 8:100134001:C:G | C643S | 0.995 |
| 8:100134002:A:T | C643S | 0.995 |
| 8:100133942:A:G | C663R | 0.994 |
| 8:100134009:G:C | C640W | 0.994 |
| 8:100133925:A:C | C668W | 0.993 |
| 8:100134023:C:G | A636P | 0.993 |
| 8:100137652:G:C | S529R | 0.993 |
| 8:100137652:G:T | S529R | 0.993 |
| 8:100137654:T:G | S529R | 0.993 |
| 8:100133929:A:G | F667S | 0.992 |
| 8:100133941:C:T | C663Y | 0.992 |
| 8:100133956:C:T | C658Y | 0.992 |
| 8:100133926:C:T | C668Y | 0.991 |
| 8:100133990:C:G | A647P | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000015466 (8:100137133 A>G), RS1000042195 (8:100142221 T>C), RS1000088447 (8:100137378 C>G,T), RS1000444093 (8:100138359 T>C), RS1000580474 (8:100145440 G>A), RS1000628372 (8:100143069 T>G), RS1000646301 (8:100144023 T>C,G), RS1000663325 (8:100149412 G>A,C), RS1000913049 (8:100142486 A>T), RS1000945018 (8:100144353 A>G), RS1000995077 (8:100150767 C>G), RS1001088539 (8:100135708 G>A), RS1001350664 (8:100143946 A>G), RS1001603474 (8:100138987 T>A,G), RS1001845567 (8:100137741 T>C)
Disease associations
OMIM: gene MIM:609110 | disease phenotypes: MIM:619696, MIM:619697
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 64 | Limited | Unknown |
| oocyte maturation defect 12 | Limited | Unknown |
Mondo (3): spermatogenic failure 64 (MONDO:0030522), oocyte maturation defect 12 (MONDO:0030523), male infertility (MONDO:0005372)
Orphanet (0):
HPO phenotypes
15 total (15 of 15 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000027 | Azoospermia |
| HP:0000118 | Phenotypic abnormality |
| HP:0000798 | Oligozoospermia |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0003251 | Male infertility |
| HP:0008222 | Female infertility |
| HP:0008669 | Abnormal spermatogenesis |
| HP:0008734 | Decreased testicular size |
| HP:0011462 | Young adult onset |
| HP:0011961 | Non-obstructive azoospermia |
| HP:0011962 | Obstructive azoospermia |
| HP:0012865 | Abnormal sperm head morphology |
| HP:0033335 | Abnormal preimplantation embryonic development |
| HP:0034011 | Reduced progressive sperm motility |
GWAS associations
0 associations (top):
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
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, increases expression | 3 |
| belinostat | decreases expression, affects cotreatment | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| methyleugenol | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Okadaic Acid | 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 64, oocyte maturation defect 12
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): male infertility, oocyte maturation defect 12, spermatogenic failure 64