MEIOB
geneOn this page
Also known as MGC35212
Summary
MEIOB (meiosis specific with OB-fold, HGNC:28569) is a protein-coding gene on chromosome 16p13.3, encoding Meiosis-specific with OB domain-containing protein (Q8N635). Single-stranded DNA-binding protein required for homologous recombination in meiosis I.
Predicted to enable chromatin binding activity; single-stranded DNA 3’-5’ DNA exonuclease activity; and single-stranded DNA binding activity. Predicted to be involved in double-strand break repair via homologous recombination; fertilization; and meiotic nuclear division. Located in nucleus. Implicated in primary ovarian insufficiency and spermatogenic failure 22.
Source: NCBI Gene 254528 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure 22 (Strong, GenCC) — +2 more curated relationships
- Clinical variants (ClinVar): 75 total — 7 pathogenic
- Phenotypes (HPO): 17
- MANE Select transcript:
NM_001163560
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28569 |
| Approved symbol | MEIOB |
| Name | meiosis specific with OB-fold |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC35212 |
| Ensembl gene | ENSG00000162039 |
| Ensembl biotype | protein_coding |
| OMIM | 617670 |
| Entrez | 254528 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000325962, ENST00000397344, ENST00000460494, ENST00000470044, ENST00000490154, ENST00000496541
RefSeq mRNA: 2 — MANE Select: NM_001163560
NM_001163560, NM_152764
CCDS: CCDS10449, CCDS53983
Canonical transcript exons
ENST00000325962 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001720077 | 1865778 | 1865835 |
| ENSE00002580569 | 1868107 | 1868184 |
| ENSE00003502950 | 1860403 | 1860475 |
| ENSE00003507198 | 1854100 | 1854200 |
| ENSE00003555382 | 1857735 | 1857930 |
| ENSE00003692541 | 1861985 | 1862116 |
| ENSE00003775899 | 1853219 | 1853271 |
| ENSE00003776654 | 1844862 | 1844963 |
| ENSE00003776967 | 1853039 | 1853134 |
| ENSE00003779199 | 1839255 | 1839438 |
| ENSE00003780017 | 1841820 | 1841973 |
| ENSE00003783583 | 1837784 | 1837870 |
| ENSE00003904058 | 1833986 | 1834366 |
| ENSE00003904279 | 1871993 | 1872164 |
Expression profiles
Bgee: expression breadth ubiquitous, 154 present calls, max score 93.50.
FANTOM5 (CAGE): breadth broad, TPM avg 4.0929 / max 172.4691, expressed in 274 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155876 | 4.0929 | 274 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 93.50 | gold quality |
| left testis | UBERON:0004533 | 92.72 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.30 | gold quality |
| testis | UBERON:0000473 | 90.19 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.52 | gold quality |
| cartilage tissue | UBERON:0002418 | 69.88 | gold quality |
| adult organism | UBERON:0007023 | 67.49 | gold quality |
| sperm | CL:0000019 | 65.40 | silver quality |
| tibia | UBERON:0000979 | 61.89 | gold quality |
| right lobe of liver | UBERON:0001114 | 61.83 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 61.03 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 60.60 | gold quality |
| secondary oocyte | CL:0000655 | 59.98 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 58.73 | gold quality |
| prefrontal cortex | UBERON:0000451 | 57.99 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 57.67 | gold quality |
| amygdala | UBERON:0001876 | 57.59 | gold quality |
| islet of Langerhans | UBERON:0000006 | 57.41 | gold quality |
| lower lobe of lung | UBERON:0008949 | 57.31 | silver quality |
| hypothalamus | UBERON:0001898 | 56.53 | gold quality |
| nucleus accumbens | UBERON:0001882 | 56.36 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 56.24 | gold quality |
| right frontal lobe | UBERON:0002810 | 56.08 | gold quality |
| right coronary artery | UBERON:0001625 | 55.85 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 55.07 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 54.99 | gold quality |
| spinal cord | UBERON:0002240 | 54.76 | gold quality |
| skin of abdomen | UBERON:0001416 | 54.56 | gold quality |
| skin of leg | UBERON:0001511 | 54.45 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 742.87 |
| E-ANND-3 | yes | 4.05 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting MEIOB, 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-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-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6516-3P | 99.65 | 68.57 | 1238 |
Literature-anchored findings (GeneRIF, showing 9)
- we propose that RPA and this new single-strand DNA binding protein MEIOB, are essential to ensure the proper stabilization of recombinases which is required for successful homology search and meiotic recombination. (PMID:24068956)
- MEIOB interacts with RPA and SPATA22. (PMID:24240703)
- MEIOB is the major, and most likely also the exclusive, contributor of the testicular pathology found in the seven non-obstructive azoospermia patients across two studies. (PMID:30838384)
- This truncating MEIOB variant is expected to provoke meiotic defects and a depleted follicular stock, as in Meiob(-/-) mice. This is the first molecular defect reported in a meiosis-specific single-stranded DNA-binding protein (SSB) responsible for POI. (PMID:31000419)
- The ssDNA-binding protein MEIOB acts as a dosage-sensitive regulator of meiotic recombination. (PMID:33166385)
- The cancer-testis gene, MEIOB, sensitizes triple-negative breast cancer to PARP1 inhibitors by inducing homologous recombination deficiency. (PMID:33628586)
- 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)
- Nuclear localization of human MEIOB requires its NLS in the OB domain and interaction with SPATA22. (PMID:36331299)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | meiob | ENSDARG00000062442 |
| mus_musculus | Meiob | ENSMUSG00000024155 |
| rattus_norvegicus | Meiob | ENSRNOG00000014711 |
| drosophila_melanogaster | hdm | FBGN0029977 |
Protein
Protein identifiers
Meiosis-specific with OB domain-containing protein — Q8N635 (reviewed: Q8N635)
All UniProt accessions (4): Q8N635, H3BSU6, H3BU10, H3BU18
UniProt curated annotations — full annotation on UniProt →
Function. Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading of recombinases but required to maintain a proper number of RAD51 and DMC1 foci after the zygotene stage. May act by ensuring the stabilization of recombinases, which is required for successful homology search and meiotic recombination. Displays Single-stranded DNA 3’-5’ exonuclease activity in vitro.
Subunit / interactions. Component of a multiprotein complex with RPA2 and SPATA22. Interacts with SPATA22. Interacts with the complex BRME1:HSF2BP:BRCA2.
Subcellular location. Cytoplasm. Nucleus. Chromosome.
Tissue specificity. In fetal gonads, specifically expressed in the ovary starting at the 14th weeks post fertilization. In the adult, restricted to testis.
Disease relevance. Spermatogenic failure 22 (SPGF22) [MIM:617706] An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. The disease is caused by variants affecting the gene represented in this entry. Premature ovarian failure 23 (POF23) [MIM:620686] 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. POF23 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the MEIOB family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N635-1 | 1 | yes |
| Q8N635-2 | 2 |
RefSeq proteins (2): NP_001157032, NP_689977 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR052469 | MEIOB | Family |
| IPR056880 | OB_MEIOB_N | Domain |
Pfam: PF24903
UniProt features (9 total): sequence variant 6, chain 1, DNA-binding region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N635-F1 | 81.00 | 0.44 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 119 (showing top):
GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, GOMF_NUCLEASE_ACTIVITY, GOBP_MALE_GAMETE_GENERATION, GOBP_ORGANELLE_FISSION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_MALE_MEIOSIS_I, GOBP_CHROMOSOME_ORGANIZATION_INVOLVED_IN_MEIOTIC_CELL_CYCLE, GOBP_FEMALE_GAMETE_GENERATION, GOBP_HOMOLOGOUS_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, GOBP_FERTILIZATION, GOBP_RECOMBINATIONAL_REPAIR, GOMF_EXONUCLEASE_ACTIVITY, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN
GO Biological Process (8): resolution of meiotic recombination intermediates (GO:0000712), double-strand break repair via homologous recombination (GO:0000724), homologous chromosome pairing at meiosis (GO:0007129), male meiotic nuclear division (GO:0007140), male meiosis I (GO:0007141), female meiosis I (GO:0007144), fertilization (GO:0009566), meiotic cell cycle (GO:0051321)
GO Molecular Function (8): chromatin binding (GO:0003682), single-stranded DNA binding (GO:0003697), single-stranded DNA 3’-5’ DNA exonuclease activity (GO:0008310), DNA binding (GO:0003677), nuclease activity (GO:0004518), exonuclease activity (GO:0004527), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (3): nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| meiotic cell cycle | 3 |
| male gamete generation | 2 |
| meiotic nuclear division | 2 |
| meiosis I | 2 |
| sexual reproduction | 2 |
| reproductive process | 2 |
| binding | 2 |
| reciprocal meiotic recombination | 1 |
| meiosis I cell cycle process | 1 |
| recombinational repair | 1 |
| double-strand break repair | 1 |
| homologous chromosome segregation | 1 |
| chromosome organization involved in meiotic cell cycle | 1 |
| male meiotic nuclear division | 1 |
| female meiotic nuclear division | 1 |
| female gamete generation | 1 |
| cell cycle | 1 |
| DNA binding | 1 |
| 3’-5’-DNA exonuclease activity | 1 |
| single-stranded DNA exodeoxyribonuclease activity | 1 |
| nucleic acid binding | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| nuclease activity | 1 |
| hydrolase activity, acting on ester bonds | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2058 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MEIOB | SPATA22 | Q8NHS9 | 968 |
| MEIOB | SPO11 | Q9Y5K1 | 706 |
| MEIOB | SYCE1 | Q8N0S2 | 700 |
| MEIOB | HSF2BP | O75031 | 689 |
| MEIOB | SYCP3 | Q8IZU3 | 688 |
| MEIOB | TEX11 | Q8IYF3 | 684 |
| MEIOB | TEX15 | Q9BXT5 | 653 |
| MEIOB | SYCE3 | A1L190 | 646 |
| MEIOB | SWSAP1 | Q6NVH7 | 642 |
| MEIOB | HFM1 | A2PYH4 | 636 |
| MEIOB | HORMAD1 | Q86X24 | 636 |
| MEIOB | MSH4 | O15457 | 627 |
| MEIOB | STAG3 | Q9UJ98 | 620 |
| MEIOB | HORMAD2 | Q8N7B1 | 613 |
| MEIOB | BRME1 | Q0VDD7 | 609 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MEIOB | GAPDHS | psi-mi:“MI:0915”(physical association) | 0.590 |
| CFTR | MEIOB | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (8): GAPDHS (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), MEIOB (Two-hybrid), GAPDHS (Affinity Capture-MS), MEIOB (Negative Genetic), MEIOB (PCA), MEIOB (Affinity Capture-RNA), MEIOB (Affinity Capture-MS)
ESM2 similar proteins: A1KXW8, A6QL50, E1BGQ2, H0Y354, O94955, P47224, Q08326, Q0IIH8, Q1JQA1, Q1RMS8, Q1RMZ1, Q2TBU5, Q3T1H6, Q4R372, Q4R528, Q4R9C4, Q5F480, Q5F4A1, Q5I0G3, Q5RCQ0, Q5RFG8, Q5TFE4, Q5TYM5, Q641X7, Q6L9T8, Q6PIP5, Q7L622, Q7Z6J8, Q7ZX59, Q86X60, Q8BFZ8, Q8BKW4, Q8BM85, Q8BX13, Q8CEL2, Q8N5C7, Q8N635, Q8NHU2, Q8TCF1, Q8TCJ0
Diamond homologs: B0BMX9, Q4R8G6, Q8N635, Q9D513
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
75 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 7 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 3 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1328958 | NM_001163560.3(MEIOB):c.1118_1121del (p.Phe373fs) | Pathogenic |
| 2045761 | NM_001163560.3(MEIOB):c.814C>T (p.Arg272Ter) | Pathogenic |
| 2691778 | NM_001163560.3(MEIOB):c.976G>A (p.Ala326Thr) | Pathogenic |
| 2691780 | NM_001163560.3(MEIOB):c.683-1G>A | Pathogenic |
| 2691783 | NM_001163560.3(MEIOB):c.528+3A>C | Pathogenic |
| 440759 | NM_001163560.3(MEIOB):c.191A>T (p.Asn64Ile) | Pathogenic |
| 4849218 | NM_001163560.3(MEIOB):c.673C>T (p.Arg225Ter) | Pathogenic |
SpliceAI
2186 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:1834363:CGAA:C | acceptor_gain | 1.0000 |
| 16:1834367:C:CC | acceptor_gain | 1.0000 |
| 16:1837782:A:AC | donor_gain | 1.0000 |
| 16:1837783:C:CC | donor_gain | 1.0000 |
| 16:1837806:T:A | donor_gain | 1.0000 |
| 16:1839238:T:TA | donor_gain | 1.0000 |
| 16:1839285:T:TA | donor_gain | 1.0000 |
| 16:1841816:TTACC:T | donor_loss | 1.0000 |
| 16:1841817:T:TG | donor_loss | 1.0000 |
| 16:1841818:A:AC | donor_gain | 1.0000 |
| 16:1841818:A:C | donor_loss | 1.0000 |
| 16:1841819:C:CC | donor_gain | 1.0000 |
| 16:1841819:CCAT:C | donor_gain | 1.0000 |
| 16:1841970:CTTA:C | acceptor_gain | 1.0000 |
| 16:1841971:TTA:T | acceptor_gain | 1.0000 |
| 16:1841972:TA:T | acceptor_gain | 1.0000 |
| 16:1841972:TACTA:T | acceptor_loss | 1.0000 |
| 16:1841973:ACTAA:A | acceptor_loss | 1.0000 |
| 16:1841974:C:CA | acceptor_loss | 1.0000 |
| 16:1841974:C:CC | acceptor_gain | 1.0000 |
| 16:1844855:CACT:C | donor_loss | 1.0000 |
| 16:1844856:ACTT:A | donor_loss | 1.0000 |
| 16:1844857:CTTA:C | donor_loss | 1.0000 |
| 16:1844858:T:TC | donor_loss | 1.0000 |
| 16:1844859:TA:T | donor_loss | 1.0000 |
| 16:1844860:A:AC | donor_gain | 1.0000 |
| 16:1844860:ACA:A | donor_loss | 1.0000 |
| 16:1844861:C:CC | donor_gain | 1.0000 |
| 16:1844861:C:T | donor_loss | 1.0000 |
| 16:1844861:CA:C | donor_gain | 1.0000 |
AlphaMissense
3124 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:1862077:C:G | R56P | 0.997 |
| 16:1853268:C:A | W211C | 0.995 |
| 16:1853268:C:G | W211C | 0.995 |
| 16:1853270:A:G | W211R | 0.994 |
| 16:1853270:A:T | W211R | 0.994 |
| 16:1862042:A:G | W68R | 0.993 |
| 16:1862042:A:T | W68R | 0.993 |
| 16:1865819:A:T | V29D | 0.993 |
| 16:1853237:A:G | W222R | 0.992 |
| 16:1853237:A:T | W222R | 0.992 |
| 16:1862040:C:A | W68C | 0.992 |
| 16:1862040:C:G | W68C | 0.992 |
| 16:1853131:A:T | I229K | 0.990 |
| 16:1865791:A:C | F38L | 0.990 |
| 16:1865791:A:T | F38L | 0.990 |
| 16:1865793:A:G | F38L | 0.990 |
| 16:1853077:G:T | A247E | 0.989 |
| 16:1854136:A:G | L198P | 0.989 |
| 16:1860420:G:C | F105L | 0.988 |
| 16:1860420:G:T | F105L | 0.988 |
| 16:1860422:A:G | F105L | 0.988 |
| 16:1857748:G:T | A172E | 0.987 |
| 16:1862086:A:G | F53S | 0.987 |
| 16:1865825:C:T | G27D | 0.986 |
| 16:1854142:A:T | V196D | 0.985 |
| 16:1857749:C:G | A172P | 0.985 |
| 16:1839323:C:G | D384H | 0.983 |
| 16:1865826:C:G | G27R | 0.982 |
| 16:1853131:A:C | I229R | 0.981 |
| 16:1854101:A:G | C210R | 0.981 |
dbSNP variants (sampled 300 via entrez): RS1000010350 (16:1854295 C>A), RS1000022022 (16:1836988 C>G), RS1000037678 (16:1854564 G>A), RS1000472736 (16:1838682 T>G), RS1000475237 (16:1870999 G>A), RS1000546544 (16:1849338 A>G), RS1000651136 (16:1848929 C>T), RS1000653945 (16:1837831 C>T), RS1000762555 (16:1843642 C>T), RS1000798782 (16:1843954 T>G), RS1000803527 (16:1868763 G>A,C), RS1000910237 (16:1867093 A>G,T), RS1000938271 (16:1849101 A>G), RS1001059099 (16:1858762 C>A), RS1001192388 (16:1854377 G>A)
Disease associations
OMIM: gene MIM:617670 | disease phenotypes: MIM:617706, MIM:620686
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure 22 | Strong | Autosomal recessive |
| premature ovarian failure 23 | Strong | Autosomal recessive |
| male infertility with azoospermia or oligozoospermia due to single gene mutation | Supportive | Autosomal dominant |
Mondo (4): azoospermia (MONDO:0100459), spermatogenic failure 22 (MONDO:0054726), premature ovarian failure 23 (MONDO:0958035), (MONDO:0018393)
Orphanet (0):
HPO phenotypes
17 total (17 of 17 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000027 | Azoospermia |
| HP:0000118 | Phenotypic abnormality |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0000869 | Secondary amenorrhea |
| HP:0000876 | Oligomenorrhea |
| HP:0003251 | Male infertility |
| HP:0008222 | Female infertility |
| HP:0008232 | Elevated circulating follicle stimulating hormone level |
| HP:0008669 | Abnormal spermatogenesis |
| HP:0008734 | Decreased testicular size |
| HP:0011462 | Young adult onset |
| HP:0011961 | Non-obstructive azoospermia |
| HP:0011962 | Obstructive azoospermia |
| HP:0030974 | Cryptozoospermia |
| HP:0031103 | Decreased circulating antimullerian hormone circulation |
| HP:0033085 | Reduced antral follicle count |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D053713 | Azoospermia | C12.100.500.430.380; C12.100.750.700.380; C12.200.294.430.380 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, decreases expression | 3 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| fluorene-9-bisphenol | increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| entinostat | increases 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 | increases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| Decitabine | affects expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | decreases expression | 1 |
| Cisplatin | affects expression | 1 |
| Tretinoin | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
Clinical trials (associated diseases)
27 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02307994 | PHASE4 | UNKNOWN | Clinical Research on Effectiveness and Safety of Treatment of Severe Oligospermia or Azoospermia With uFSH |
| NCT02275169 | PHASE3 | UNKNOWN | FSH Treatment for Non-obstructive Azoospermic Patients |
| NCT02544191 | PHASE2 | UNKNOWN | GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia |
| NCT03762967 | PHASE2 | UNKNOWN | Autologous Adipose-Derived Adult Stromal Vascular Cell Administration for Male Patients With Infertility |
| NCT02041910 | PHASE1/PHASE2 | UNKNOWN | Testicular Injection of Autologous Stem Cells for Treatment of Patients With Azoospermia |
| NCT00282477 | Not specified | UNKNOWN | Trial to Evaluate Erectile Function, Fertility and Sperm Count in Male Cyclists Compared to Age Matched Controls |
| NCT00484081 | Not specified | COMPLETED | Microdissection Testicular Sperm Extraction (MicroTESE) and IVF-ICSI Outcome in Non-Obstructive Azoospermia (NOA) |
| NCT00548977 | Not specified | COMPLETED | Genetic Studies Spermatogenic Failure |
| NCT01375062 | Not specified | COMPLETED | Obtaining Undifferentiated Cells From Testis Biopsy |
| NCT01509482 | Not specified | COMPLETED | Insulin Resistance in Idiopathic Oligospermia and Azoospermia |
| NCT02008799 | Not specified | UNKNOWN | Intra Testicular Artery Injection of Bone Marrow Stem Cell in Management of Azoospermia |
| NCT02339272 | Not specified | COMPLETED | Study of Synapsis and Recombination in Male Meiosis and the Implications in Infertility |
| NCT02414295 | Not specified | COMPLETED | Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection |
| NCT02418832 | Not specified | RECRUITING | Testis Needle Aspiration of Sperm in Men With Azoospermia |
| NCT02617173 | Not specified | UNKNOWN | The Effect of Low Electrical Current on Testicular Spermatocyte Count |
| NCT02773498 | Not specified | TERMINATED | Comparison of Medical Results of Testicular Sperm Extraction by Conventional Surgery and Microsurgical Track |
| NCT03497728 | Not specified | TERMINATED | Detection of Microdeletions in the Azoospermia Factor (AZF) Regions in Infertile Male Patients |
| NCT04675164 | Not specified | COMPLETED | Laser Assisted Sperm Selection of Viable Immotile Testicular Sperm in Azoospermic Infertile Men |
| NCT05479474 | Not specified | RECRUITING | Platelet Rich Plasma Testis Treatment for Infertile Men |
| NCT05628987 | Not specified | RECRUITING | The Association of Gut Microbiota and Spermatogenic Dysfunction |
| NCT05866484 | Not specified | COMPLETED | Testicular Sperm Aspiration (TESA) vs. Microfluidic Sperm Separation (MSS) |
| NCT06524258 | Not specified | COMPLETED | Testicular Elastography for Microscopic Testicular Sperm Extraction |
| NCT06841328 | Not specified | RECRUITING | Fertility Enhancement Through Regenerative Treatment in Ovaries and Testes |
| NCT06941922 | Not specified | RECRUITING | Testicular Evaluation of Azoospermia Using Micro-Ultrasound |
| NCT07074015 | Not specified | RECRUITING | IntelliWell: An AI-Assisted Imaging Platform for Detection and Location of Ultra-Rare Testicular Sperm in Surgical Specimens |
| NCT07357701 | Not specified | RECRUITING | Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI) |
| NCT07542626 | Not specified | RECRUITING | Fertility Restoration With Autografting of Cryopreserved Immature Testicular Tissue |
Related Atlas pages
- Associated diseases: spermatogenic failure 22, premature ovarian failure 23
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): azoospermia, premature ovarian failure 23, spermatogenic failure 22