TEX15
gene geneOn this page
Also known as CT42
Summary
TEX15 (testis expressed 15, meiosis and synapsis associated, HGNC:11738) is a protein-coding gene on chromosome 8p12, encoding Testis-expressed protein 15 (Q9BXT5). Required during spermatogenesis for normal chromosome synapsis and meiotic recombination in germ cells.
This gene encodes a protein that is required for DNA double-strand break repair, chromosome synapsis, and meiotic recombination in spermatocytes. Male mice with a knockout of the orthologous gene are viable but sterile. Loss-of-function mutations in the orthologous mouse gene cause early meiotic arrest in spermatocytes, before the mid-pachytene stage. Naturally occurring mutations in this gene are associated with nonobstructive azoospermia.
Source: NCBI Gene 56154 — RefSeq curated summary.
At a glance
- Gene–disease (curated): male infertility with azoospermia or oligozoospermia due to single gene mutation (Supportive, GenCC) — +1 more curated relationship
- GWAS associations: 1
- Clinical variants (ClinVar): 534 total — 7 pathogenic, 15 likely-pathogenic
- Phenotypes (HPO): 12
- MANE Select transcript:
NM_001350162
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11738 |
| Approved symbol | TEX15 |
| Name | testis expressed 15, meiosis and synapsis associated |
| Location | 8p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CT42 |
| Ensembl gene | ENSG00000133863 |
| Ensembl biotype | protein_coding |
| OMIM | 605795 |
| Entrez | 56154 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000256246, ENST00000518257, ENST00000638951, ENST00000643185
RefSeq mRNA: 1 — MANE Select: NM_001350162
NM_001350162
CCDS: CCDS87593
Canonical transcript exons
ENST00000643185 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000911602 | 30836803 | 30838061 |
| ENSE00000911603 | 30839906 | 30839964 |
| ENSE00001167066 | 30831544 | 30833323 |
| ENSE00002090819 | 30867265 | 30867502 |
| ENSE00002109501 | 30858668 | 30858830 |
| ENSE00002113715 | 30859911 | 30860057 |
| ENSE00002133619 | 30874937 | 30875102 |
| ENSE00003803810 | 30842004 | 30849316 |
| ENSE00003818610 | 30898742 | 30898817 |
| ENSE00003827181 | 30912879 | 30913008 |
| ENSE00003830142 | 30887167 | 30887311 |
Expression profiles
Bgee: expression breadth broad, 76 present calls, max score 95.02.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4242 / max 39.9982, expressed in 142 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 92642 | 0.2312 | 96 |
| 92641 | 0.1407 | 59 |
| 92643 | 0.0523 | 24 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 95.02 | gold quality |
| sperm | CL:0000019 | 91.64 | gold quality |
| male germ cell | CL:0000015 | 88.05 | gold quality |
| secondary oocyte | CL:0000655 | 82.40 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 78.93 | gold quality |
| testis | UBERON:0000473 | 78.44 | gold quality |
| right testis | UBERON:0004534 | 77.27 | gold quality |
| left testis | UBERON:0004533 | 76.13 | gold quality |
| oocyte | CL:0000023 | 71.17 | gold quality |
| body of uterus | UBERON:0009853 | 71.17 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 64.23 | gold quality |
| ventricular zone | UBERON:0003053 | 63.90 | gold quality |
| buccal mucosa cell | CL:0002336 | 62.90 | gold quality |
| ganglionic eminence | UBERON:0004023 | 61.88 | gold quality |
| pancreatic ductal cell | CL:0002079 | 61.29 | silver quality |
| adult organism | UBERON:0007023 | 60.95 | gold quality |
| myometrium | UBERON:0001296 | 60.47 | gold quality |
| cauda epididymis | UBERON:0004360 | 56.65 | gold quality |
| embryo | UBERON:0000922 | 56.27 | gold quality |
| uterus | UBERON:0000995 | 54.81 | gold quality |
| tibialis anterior | UBERON:0001385 | 54.10 | silver quality |
| ileal mucosa | UBERON:0000331 | 53.78 | silver quality |
| caudate nucleus | UBERON:0001873 | 53.53 | gold quality |
| cortical plate | UBERON:0005343 | 53.20 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 52.75 | gold quality |
| putamen | UBERON:0001874 | 52.58 | gold quality |
| deltoid | UBERON:0001476 | 52.46 | gold quality |
| gall bladder | UBERON:0002110 | 51.85 | gold quality |
| myocardium | UBERON:0002349 | 51.72 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 51.17 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.03 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 6)
- the polymorphisms rs323346 and rs323347 of the TEX15 gene could be considered the genetic risk factors for spermatogenic failure in the Chinese Han population (PMID:22581801)
- Data identified nonsense mutation in TEX15 gene co-segregating with the infertility phenotype, as the cause of spermatogenic defects. (PMID:26199321)
- TEX15 could become a clinical marker for detection of nonobstructive azoospermia or cryptozoospermia–{CASE REPORT} (PMID:28303806)
- Our results indicate a potential role in breast cancer predisposition for heterozygous truncating mutations in FANCD2 and TEX15. Based on our results, FANCD2 c.2715 + 1G > A might act as a moderate breast cancer risk allele, adding FANCD2 to the list of shared genes between FA and breast cancer. (PMID:28386063)
- In Han Chinese, the rare variant, Q1631H in DNA repair gene, TEX15, is associated with prostate cancer risk. (PMID:28730685)
- This result suggests that regular expression of TEX11, TEX12, TEX14 and TEX15 is essential for the early stages of spermatogenesis. (PMID:29932616)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tex15 | ENSDARG00000098929 |
| mus_musculus | Tex15 | ENSMUSG00000009628 |
| rattus_norvegicus | Tex15 | ENSRNOG00000007748 |
Protein
Protein identifiers
Testis-expressed protein 15 — Q9BXT5 (reviewed: Q9BXT5)
Alternative names: Cancer/testis antigen 42
All UniProt accessions (3): A0A1W2PS94, A0A2R8Y358, Q9BXT5
UniProt curated annotations — full annotation on UniProt →
Function. Required during spermatogenesis for normal chromosome synapsis and meiotic recombination in germ cells. Necessary for formation of DMC1 and RAD51 foci on meiotic chromosomes, suggesting a specific role in DNA double-stranded break repair. Essential executor of PIWIL4-piRNA pathway directed transposon DNA methylation and silencing in the male embryonic germ cells. PIWIL4-piRNA binds to nascent transposon transcripts and interacts with TEX15, which may in turn recruit the epigenetic silencing machinery to the transposon loci. Not required for piRNA biosynthesis.
Subunit / interactions. Interacts with PIWIL4 and PIWIL2.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in testis, predominantly in germ cells. Low expression, if any, in ovary. Also expressed in several cancers.
Disease relevance. Spermatogenic failure 25 (SPGF25) [MIM:617960] An autosomal recessive infertility disorder caused by spermatogenesis defects that result in severe oligozoospermia or azoospermia. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the TEX15 family.
RefSeq proteins (1): NP_001337091* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026616 | TEX15 | Family |
| IPR032765 | TEX15_dom | Domain |
Pfam: PF15326
UniProt features (23 total): sequence variant 10, compositionally biased region 7, region of interest 5, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q9BXT5 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-912446 | Meiotic recombination |
| R-HSA-1474165 | Reproduction |
| R-HSA-1500620 | Meiosis |
| R-HSA-1640170 | Cell Cycle |
MSigDB gene sets: 162 (showing top):
GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, REACTOME_MEIOTIC_RECOMBINATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_DNA_RECOMBINATION, PEREZ_TP63_TARGETS, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, GOBP_MALE_GAMETE_GENERATION, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_SYNAPTONEMAL_COMPLEX_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_DNA_METHYLATION_DEPENDENT_CONSTITUTIVE_HETEROCHROMATIN_FORMATION, GOBP_ORGANELLE_FISSION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, WEBER_METHYLATED_LCP_IN_FIBROBLAST_DN
GO Biological Process (12): DNA repair (GO:0006281), DNA methylation-dependent constitutive heterochromatin formation (GO:0006346), synaptonemal complex assembly (GO:0007130), male meiotic nuclear division (GO:0007140), spermatogenesis (GO:0007283), transposable element silencing (GO:0010526), regulation of double-strand break repair via homologous recombination (GO:0010569), cell differentiation (GO:0030154), regulatory ncRNA-mediated gene silencing (GO:0031047), DNA damage response (GO:0006974), homologous chromosome pairing at meiosis (GO:0007129), meiotic cell cycle (GO:0051321)
GO Molecular Function (0):
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Meiosis | 1 |
| Reproduction | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chromosome organization involved in meiotic cell cycle | 2 |
| male gamete generation | 2 |
| meiotic nuclear division | 2 |
| negative regulation of gene expression | 2 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| constitutive heterochromatin formation | 1 |
| homologous chromosome pairing at meiosis | 1 |
| cellular component assembly | 1 |
| synaptonemal complex organization | 1 |
| meiotic cell cycle | 1 |
| developmental process involved in reproduction | 1 |
| retrotransposition | 1 |
| regulation of DNA recombination | 1 |
| double-strand break repair via homologous recombination | 1 |
| regulation of double-strand break repair | 1 |
| cellular developmental process | 1 |
| cellular response to stress | 1 |
| homologous chromosome segregation | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1408 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TEX15 | UBL4B | Q8N7F7 | 927 |
| TEX15 | SLC6A17 | Q9H1V8 | 762 |
| TEX15 | TEX11 | Q8IYF3 | 728 |
| TEX15 | MEIOB | Q8N635 | 653 |
| TEX15 | ALX3 | O95076 | 650 |
| TEX15 | SYCE1 | Q8N0S2 | 603 |
| TEX15 | UBL4A | P11441 | 591 |
| TEX15 | TEX12 | Q9BXU0 | 558 |
| TEX15 | MEI1 | Q5TIA1 | 555 |
| TEX15 | SPO11 | Q9Y5K1 | 551 |
| TEX15 | ZMYND15 | Q9H091 | 546 |
| TEX15 | SPOCD1 | Q6ZMY3 | 545 |
| TEX15 | TEX14 | Q8IWB6 | 540 |
| TEX15 | PIWIL4 | Q7Z3Z4 | 528 |
| TEX15 | TDRKH | Q9Y2W6 | 527 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SERPINC1 | BTD | psi-mi:“MI:0914”(association) | 0.530 |
| TEX15 | RPL19 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TEX15 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TEX15 | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| COLQ | PLOD2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATF6B | AK4 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| LY6G5B | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SCGB2A2 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| SPOCK2 | VPS4B | psi-mi:“MI:0914”(association) | 0.350 |
| LY6G5C | ITGAV | psi-mi:“MI:0914”(association) | 0.350 |
| SERPINC1 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| TRGV3 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| PTBP3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (25): TEX15 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), TEX15 (Proximity Label-MS), TEX15 (Proximity Label-MS), TEX15 (Proximity Label-MS), TEX15 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), TEX15 (Affinity Capture-MS), TEX15 (Affinity Capture-MS)
ESM2 similar proteins: A0A140LI88, A4D1E1, D3Z987, D3ZUC6, E5FYH0, E5FYH1, E9Q3S4, F6ULY3, F7DF15, G3S077, G7H7V7, G7NY55, O35923, O54952, O88491, O95405, P38398, P48754, P51587, P97929, Q0VBV7, Q0VGT4, Q2M3C7, Q3V089, Q56UN5, Q5DTT3, Q5F2C3, Q5VWN6, Q61493, Q68DQ2, Q6J6I8, Q6J6I9, Q6J6J0, Q6NSW3, Q6ZP01, Q7TSY8, Q7Z570, Q80U44, Q864S8, Q864U1
Diamond homologs: F8VPN2, Q9BXT5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
534 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 7 |
| Likely pathogenic | 15 |
| Uncertain significance | 383 |
| Likely benign | 82 |
| Benign | 27 |
Top pathogenic / likely-pathogenic (22)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1071185 | NM_001350162.2(TEX15):c.6906_6907del (p.Arg2302fs) | Pathogenic |
| 1244247 | NM_001350162.2(TEX15):c.8197_8198del (p.Glu2733fs) | Pathogenic |
| 190036 | NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter) | Pathogenic |
| 523229 | NM_001350162.2(TEX15):c.3568A>T (p.Lys1190Ter) | Pathogenic |
| 523230 | NM_001350162.2(TEX15):c.4189del (p.Ser1397fs) | Pathogenic |
| 523231 | NM_001350162.2(TEX15):c.8083C>T (p.Arg2695Ter) | Pathogenic |
| 835432 | NM_001350162.2(TEX15):c.2574_2581del (p.Thr859fs) | Pathogenic |
| 2442295 | NM_001350162.2(TEX15):c.6874_6877del (p.Ser2292fs) | Likely pathogenic |
| 2442299 | NM_001350162.2(TEX15):c.6118T>G (p.Cys2040Gly) | Likely pathogenic |
| 3064769 | NM_001350162.2(TEX15):c.2134C>T (p.Gln712Ter) | Likely pathogenic |
| 3234971 | NM_001350162.2(TEX15):c.6869_6872del (p.Lys2290fs) | Likely pathogenic |
| 3350376 | NM_001350162.2(TEX15):c.7504_7508del (p.Ser2502fs) | Likely pathogenic |
| 3780706 | NM_001350162.2(TEX15):c.5854del (p.Ile1952fs) | Likely pathogenic |
| 3780707 | NM_001350162.2(TEX15):c.8817del (p.Ile2940fs) | Likely pathogenic |
| 3892637 | NM_001350162.2(TEX15):c.9084T>A (p.Tyr3028Ter) | Likely pathogenic |
| 3892639 | NM_001350162.2(TEX15):c.4385_4386insGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Ala1463fs) | Likely pathogenic |
| 3892640 | NM_001350162.2(TEX15):c.4257_4266del (p.Cys1420fs) | Likely pathogenic |
| 3892641 | NM_001350162.2(TEX15):c.3816_3817dup (p.Asp1273fs) | Likely pathogenic |
| 4077086 | NM_001350162.2(TEX15):c.8755C>T (p.Gln2919Ter) | Likely pathogenic |
| 4077693 | NM_001350162.2(TEX15):c.2734dup (p.Ile912fs) | Likely pathogenic |
| 4845718 | NM_001350162.2(TEX15):c.4072_4073del (p.Lys1358fs) | Likely pathogenic |
| 4845775 | NM_001350162.2(TEX15):c.2580_2583del (p.Asp860fs) | Likely pathogenic |
SpliceAI
380 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:30839900:TCCTA:T | donor_loss | 0.9900 |
| 8:30839901:CCTAC:C | donor_loss | 0.9900 |
| 8:30839902:CTACC:C | donor_loss | 0.9900 |
| 8:30839903:TACCT:T | donor_loss | 0.9900 |
| 8:30839904:A:AG | donor_loss | 0.9900 |
| 8:30839961:CTAC:C | acceptor_gain | 0.9900 |
| 8:30839962:TAC:T | acceptor_gain | 0.9900 |
| 8:30839965:C:CC | acceptor_gain | 0.9900 |
| 8:30839967:G:GC | acceptor_gain | 0.9900 |
| 8:30839970:T:TC | acceptor_gain | 0.9900 |
| 8:30839971:T:C | acceptor_gain | 0.9900 |
| 8:30839971:T:TC | acceptor_gain | 0.9900 |
| 8:30839963:ACC:A | acceptor_loss | 0.9800 |
| 8:30839964:CC:C | acceptor_loss | 0.9800 |
| 8:30839967:G:C | acceptor_gain | 0.9800 |
| 8:30839969:G:C | acceptor_gain | 0.9700 |
| 8:30833324:C:CC | acceptor_gain | 0.9500 |
| 8:30838082:A:C | acceptor_gain | 0.9500 |
| 8:30842000:ATAC:A | donor_loss | 0.9500 |
| 8:30842002:A:C | donor_loss | 0.9500 |
| 8:30839964:CCTG:C | acceptor_gain | 0.9400 |
| 8:30839969:G:GC | acceptor_gain | 0.9400 |
| 8:30839970:T:C | acceptor_gain | 0.9200 |
| 8:30842002:A:AC | donor_gain | 0.9200 |
| 8:30842003:C:CC | donor_gain | 0.9200 |
| 8:30838069:G:GC | acceptor_gain | 0.9100 |
| 8:30838078:A:C | acceptor_gain | 0.9100 |
| 8:30833319:TGGAG:T | acceptor_gain | 0.9000 |
| 8:30833321:GAGC:G | acceptor_loss | 0.9000 |
| 8:30833322:AGCT:A | acceptor_loss | 0.9000 |
AlphaMissense
21228 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:30842794:A:G | L2075P | 0.985 |
| 8:30842741:A:G | W2093R | 0.980 |
| 8:30842741:A:T | W2093R | 0.980 |
| 8:30842736:A:C | F2094L | 0.977 |
| 8:30842736:A:T | F2094L | 0.977 |
| 8:30842738:A:G | F2094L | 0.977 |
| 8:30843777:G:C | F1747L | 0.977 |
| 8:30843777:G:T | F1747L | 0.977 |
| 8:30843779:A:G | F1747L | 0.977 |
| 8:30842348:C:G | G2224R | 0.970 |
| 8:30842348:C:T | G2224R | 0.970 |
| 8:30842568:A:C | N2150K | 0.970 |
| 8:30842568:A:T | N2150K | 0.970 |
| 8:30842998:A:G | L2007P | 0.970 |
| 8:30846076:A:G | L981P | 0.968 |
| 8:30843864:G:C | S1718R | 0.967 |
| 8:30843864:G:T | S1718R | 0.967 |
| 8:30843866:T:G | S1718R | 0.967 |
| 8:30843600:A:C | F1806L | 0.963 |
| 8:30843600:A:T | F1806L | 0.963 |
| 8:30843602:A:G | F1806L | 0.963 |
| 8:30843655:C:G | R1788P | 0.963 |
| 8:30842846:C:G | A2058P | 0.961 |
| 8:30843912:G:C | F1702L | 0.961 |
| 8:30843912:G:T | F1702L | 0.961 |
| 8:30843914:A:G | F1702L | 0.961 |
| 8:30843940:A:G | L1693P | 0.960 |
| 8:30842752:C:G | R2089P | 0.958 |
| 8:30843778:A:G | F1747S | 0.957 |
| 8:30842713:A:G | L2102P | 0.956 |
dbSNP variants (sampled 300 via entrez): RS1000000204 (8:30852902 G>C), RS1000039350 (8:30856485 C>T), RS1000089293 (8:30901354 T>C), RS1000100350 (8:30859252 ATAATT>A), RS1000110804 (8:30858129 A>G,T), RS1000193303 (8:30863076 G>C,T), RS1000201369 (8:30834734 T>C), RS1000250503 (8:30834524 G>A), RS1000252944 (8:30876648 T>C), RS1000308713 (8:30841277 A>T), RS1000309368 (8:30863446 G>A), RS1000316745 (8:30905617 T>A,G), RS1000322869 (8:30882938 A>G), RS1000350744 (8:30882529 G>C), RS1000355145 (8:30876701 C>T)
Disease associations
OMIM: gene MIM:605795 | disease phenotypes: MIM:617960, MIM:258150
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| male infertility with azoospermia or oligozoospermia due to single gene mutation | Supportive | Autosomal dominant |
| spermatogenic failure 25 | Limited | Unknown |
Mondo (4): spermatogenic failure 25 (MONDO:0054729), myoepithelial tumor (MONDO:0002380), spermatogenic failure 1 (MONDO:0009776), (MONDO:0018393)
Orphanet (1): Male infertility with azoospermia or oligozoospermia due to single gene mutation (Orphanet:399805)
HPO phenotypes
12 total (12 of 12 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:0003251 | Male 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:0030974 | Cryptozoospermia |
| HP:0031039 | Spermatocyte maturation arrest |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003518_18 | Daytime sleep phenotypes | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime rest measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009208 | Myoepithelioma | C04.557.435.585 |
| C562902 | Oligosynaptic Infertility (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, affects cotreatment, increases expression, affects expression | 10 |
| trichostatin A | increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| lasiocarpine | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Catechin | decreases expression, affects cotreatment | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Paraquat | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
5 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03600649 | PHASE1 | UNKNOWN | Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas |
| NCT05266196 | PHASE1/PHASE2 | UNKNOWN | A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577) |
| NCT06239272 | PHASE1/PHASE2 | RECRUITING | NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS) |
| NCT06625190 | PHASE1/PHASE2 | RECRUITING | Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors |
| NCT06244420 | Not specified | COMPLETED | Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis |
Related Atlas pages
- Associated diseases: spermatogenic failure 25
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myoepithelial tumor, spermatogenic failure 1, spermatogenic failure 25