TEX11
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Also known as TSGA3TGC1ZIP4ZIP4HMZIP4Spo22
Summary
TEX11 (testis expressed 11, HGNC:11733) is a protein-coding gene on chromosome Xq13.1, encoding Testis-expressed protein 11 (Q8IYF3). Regulator of crossing-over during meiosis.
This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Source: NCBI Gene 56159 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure, X-linked, 2 (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 3
- Clinical variants (ClinVar): 180 total — 17 pathogenic
- Phenotypes (HPO): 12
- MANE Select transcript:
NM_031276
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11733 |
| Approved symbol | TEX11 |
| Name | testis expressed 11 |
| Location | Xq13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TSGA3, TGC1, ZIP4, ZIP4H, MZIP4, Spo22 |
| Ensembl gene | ENSG00000120498 |
| Ensembl biotype | protein_coding |
| OMIM | 300311 |
| Entrez | 56159 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000344304, ENST00000374320, ENST00000374333, ENST00000395889
RefSeq mRNA: 2 — MANE Select: NM_031276
NM_001003811, NM_031276
CCDS: CCDS35323, CCDS43968
Canonical transcript exons
ENST00000374333 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000815621 | 70529835 | 70529999 |
| ENSE00000893187 | 70651450 | 70651552 |
| ENSE00000893188 | 70629611 | 70629735 |
| ENSE00000893189 | 70624839 | 70624924 |
| ENSE00000893192 | 70609091 | 70609177 |
| ENSE00000893193 | 70606959 | 70607029 |
| ENSE00000893194 | 70605401 | 70605517 |
| ENSE00000893195 | 70591751 | 70591823 |
| ENSE00000893196 | 70554651 | 70554800 |
| ENSE00000893197 | 70553306 | 70553414 |
| ENSE00000893198 | 70552126 | 70552246 |
| ENSE00001092372 | 70853248 | 70853328 |
| ENSE00001092375 | 70740701 | 70740796 |
| ENSE00001161753 | 70670377 | 70670514 |
| ENSE00001161763 | 70678804 | 70678889 |
| ENSE00001161771 | 70682674 | 70682825 |
| ENSE00001161789 | 70725262 | 70725343 |
| ENSE00001161801 | 70744165 | 70744219 |
| ENSE00001161805 | 70806705 | 70806790 |
| ENSE00001161818 | 70853034 | 70853153 |
| ENSE00001161828 | 70860857 | 70860936 |
| ENSE00001161835 | 70873223 | 70873307 |
| ENSE00001210585 | 70879988 | 70880109 |
| ENSE00001223175 | 70610503 | 70610543 |
| ENSE00001223213 | 70833513 | 70833593 |
| ENSE00001223391 | 70623950 | 70624006 |
| ENSE00001463176 | 70528940 | 70529187 |
| ENSE00001463235 | 70908654 | 70908711 |
| ENSE00003614364 | 70722618 | 70722696 |
| ENSE00003617602 | 70907753 | 70907810 |
Expression profiles
Bgee: expression breadth broad, 68 present calls, max score 93.51.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0840 / max 49.8415, expressed in 11 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199533 | 0.0647 | 10 |
| 199532 | 0.0174 | 5 |
| 199534 | 0.0020 | 1 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 93.51 | gold quality |
| male germ cell | CL:0000015 | 91.53 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.46 | gold quality |
| body of pancreas | UBERON:0001150 | 83.70 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.27 | gold quality |
| right testis | UBERON:0004534 | 80.01 | gold quality |
| left testis | UBERON:0004533 | 78.08 | gold quality |
| testis | UBERON:0000473 | 77.50 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 74.66 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 73.42 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 72.80 | gold quality |
| colonic mucosa | UBERON:0000317 | 72.01 | gold quality |
| pancreas | UBERON:0001264 | 71.53 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 70.00 | silver quality |
| type B pancreatic cell | CL:0000169 | 69.77 | gold quality |
| buccal mucosa cell | CL:0002336 | 69.56 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 69.47 | silver quality |
| tongue squamous epithelium | UBERON:0006919 | 68.70 | gold quality |
| diaphragm | UBERON:0001103 | 67.72 | gold quality |
| vastus lateralis | UBERON:0001379 | 67.62 | gold quality |
| oocyte | CL:0000023 | 66.66 | gold quality |
| quadriceps femoris | UBERON:0001377 | 66.64 | gold quality |
| olfactory bulb | UBERON:0002264 | 65.84 | gold quality |
| biceps brachii | UBERON:0001507 | 65.34 | gold quality |
| vena cava | UBERON:0004087 | 65.05 | gold quality |
| secondary oocyte | CL:0000655 | 64.46 | gold quality |
| rectum | UBERON:0001052 | 63.71 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 62.77 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 62.50 | gold quality |
| cerebellar vermis | UBERON:0004720 | 62.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.79 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1, ESR2
miRNA regulators (miRDB)
12 targeting TEX11, 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-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-4272 | 98.76 | 68.74 | 1810 |
| HSA-MIR-4799-3P | 97.78 | 65.97 | 893 |
| HSA-MIR-4720-5P | 97.46 | 65.67 | 893 |
| HSA-MIR-5588-5P | 97.46 | 65.70 | 913 |
| HSA-MIR-514A-5P | 96.94 | 65.49 | 801 |
| HSA-MIR-7108-5P | 96.42 | 66.17 | 598 |
Literature-anchored findings (GeneRIF, showing 14)
- TEX11 was specifically expressed in human testis. (PMID:11279525)
- hemizygous TEX11 mutations were a common cause of meiotic arrest and azoospermia in infertile men (PMID:25970010)
- Genetic screening of a large cohort of idiopathic infertile men reveals that TEX11 mutations, including frameshift and splicing acceptor site mutations, cause infertility in 1% of azoospermic men. (PMID:26136358)
- TEX11 mutations, including frameshift and splicing acceptor site mutations, cause infertility in 1% of non-obstructive azoospermic men. (PMID:26136358)
- Through the translational regulation of novel RNA targets SMC1B and TEX11, DAZL may have a key role in regulating chromosome cohesion and DNA recombination; two processes fundamental in determining oocyte quality and whose establishment in foetal life may support lifelong fertility. (PMID:28364521)
- Data identified one novel TEX11 mutation in two brothers. The missense mutation is associated with male infertility, especially azoospermia. (PMID:29661171)
- This result suggests that regular expression of TEX11, TEX12, TEX14 and TEX15 is essential for the early stages of spermatogenesis. (PMID:29932616)
- Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia. (PMID:33728612)
- A new TEX11 mutation causes azoospermia and testicular meiotic arrest. (PMID:33762476)
- Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking. (PMID:33837739)
- Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population. (PMID:35248021)
- Downregulation of TEX11 promotes S-Phase progression and proliferation in colorectal cancer cells through the FOXO3a/COP1/c-Jun/p21 axis. (PMID:36258021)
- Testis-expressed gene 11 inhibits cisplatin-induced DNA damage and contributes to chemoresistance in testicular germ cell tumor. (PMID:36319719)
- Novel mutations of TEX11 are associated with non-obstructive azoospermia. (PMID:37124723)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tex11 | ENSDARG00000078995 |
| mus_musculus | Tex11 | ENSMUSG00000009670 |
| rattus_norvegicus | Tex11 | ENSRNOG00000025672 |
Protein
Protein identifiers
Testis-expressed protein 11 — Q8IYF3 (reviewed: Q8IYF3)
Alternative names: Protein ZIP4 homolog
All UniProt accessions (1): Q8IYF3
UniProt curated annotations — full annotation on UniProt →
Function. Regulator of crossing-over during meiosis. Involved in initiation and/or maintenance of chromosome synapsis and formation of crossovers.
Subunit / interactions. Interacts with SYCP2. Interacts with PBXIP1; may prevent interaction between PBXIP1 and ESR2. Interacts with SHOC1. Interacts with REDIC1.
Subcellular location. Chromosome.
Tissue specificity. Testis-specific. Not expressed in adult ovaries.
Disease relevance. Spermatogenic failure, X-linked, 2 (SPGFX2) [MIM:309120] An infertility disorder caused by spermatogenesis defects. It is characterized by mixed testicular atrophy and azoospermia with meiotic arrest. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the SPO22 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IYF3-1 | 1 | yes |
| Q8IYF3-2 | 2 | |
| Q8IYF3-3 | 3 |
RefSeq proteins (2): NP_001003811, NP_112566* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR013940 | Spo22/ZIP4/TEX11 | Family |
| IPR019734 | TPR_rpt | Repeat |
| IPR042861 | TEX11 | Family |
Pfam: PF08631
UniProt features (9 total): sequence variant 4, splice variant 2, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IYF3-F1 | 86.45 | 0.57 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 101 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_MALE_GAMETE_GENERATION, GOBP_SYNAPTONEMAL_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_FISSION, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_CHROMOSOME_ORGANIZATION_INVOLVED_IN_MEIOTIC_CELL_CYCLE, GOBP_SEX_DIFFERENTIATION, SABATES_COLORECTAL_ADENOMA_DN, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_HOMOLOGOUS_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, GOBP_FERTILIZATION
GO Biological Process (15): resolution of meiotic recombination intermediates (GO:0000712), meiotic gene conversion (GO:0006311), apoptotic process (GO:0006915), male meiosis chromosome segregation (GO:0007060), synaptonemal complex assembly (GO:0007130), reciprocal meiotic recombination (GO:0007131), male gonad development (GO:0008584), fertilization (GO:0009566), ectopic germ cell programmed cell death (GO:0035234), negative regulation of apoptotic process (GO:0043066), chiasma assembly (GO:0051026), negative regulation of developmental process (GO:0051093), negative regulation of reproductive process (GO:2000242), male meiotic nuclear division (GO:0007140), meiotic cell cycle (GO:0051321)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): central element (GO:0000801), chromosome (GO:0005694), condensed nuclear chromosome (GO:0000794), synaptonemal complex (GO:0000795)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| reproductive process | 3 |
| reciprocal meiotic recombination | 2 |
| meiosis I cell cycle process | 2 |
| homologous chromosome pairing at meiosis | 2 |
| cellular component assembly | 2 |
| meiotic cell cycle process | 2 |
| sexual reproduction | 2 |
| negative regulation of biological process | 2 |
| meiotic nuclear division | 2 |
| gene conversion | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| male meiotic nuclear division | 1 |
| meiotic chromosome segregation | 1 |
| chromosome organization involved in meiotic cell cycle | 1 |
| synaptonemal complex organization | 1 |
| meiosis I | 1 |
| reciprocal homologous recombination | 1 |
| gonad development | 1 |
| development of primary male sexual characteristics | 1 |
| developmental process involved in reproduction | 1 |
| programmed cell death involved in cell development | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| developmental process | 1 |
| regulation of developmental process | 1 |
| regulation of reproductive process | 1 |
| male gamete generation | 1 |
| meiotic cell cycle | 1 |
| cell cycle | 1 |
| binding | 1 |
| synaptonemal complex | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| nuclear chromosome | 1 |
| condensed chromosome | 1 |
| nucleus | 1 |
| synaptonemal structure | 1 |
Protein interactions and networks
STRING
1070 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TEX11 | SYCP2 | Q9BX26 | 961 |
| TEX11 | HFM1 | A2PYH4 | 866 |
| TEX11 | MSH4 | O15457 | 811 |
| TEX11 | C1orf146 | Q5VVC0 | 798 |
| TEX11 | SHOC1 | Q5VXU9 | 786 |
| TEX11 | RNF212 | Q495C1 | 774 |
| TEX11 | MSH5 | O43196 | 743 |
| TEX11 | TEX15 | Q9BXT5 | 728 |
| TEX11 | SPO11 | Q9Y5K1 | 716 |
| TEX11 | HORMAD1 | Q86X24 | 700 |
| TEX11 | MEIOB | Q8N635 | 684 |
| TEX11 | SYCE1 | Q8N0S2 | 666 |
| TEX11 | HORMAD2 | Q8N7B1 | 663 |
| TEX11 | TAF7L | Q5H9L4 | 649 |
| TEX11 | ZMYND15 | Q9H091 | 628 |
IntAct
125 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TEX11 | STMN2 | psi-mi:“MI:0915”(physical association) | 0.700 |
| BORCS8 | TEX11 | psi-mi:“MI:0915”(physical association) | 0.700 |
| STMN2 | TEX11 | psi-mi:“MI:0915”(physical association) | 0.700 |
| TEX11 | BORCS8 | psi-mi:“MI:0915”(physical association) | 0.700 |
| CDKN1A | TEX11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HYI | TEX11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TEX11 | POM121 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TEX11 | SNX7 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TEX11 | HYI | psi-mi:“MI:0915”(physical association) | 0.670 |
| POM121 | TEX11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TEX11 | CDKN1A | psi-mi:“MI:0915”(physical association) | 0.670 |
| SNX7 | TEX11 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NEFL | TEX11 | psi-mi:“MI:0915”(physical association) | 0.600 |
BioGRID (135): TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid), TEX11 (Two-hybrid)
ESM2 similar proteins: A1A4P9, A4QNG1, B1WB06, B8JLV7, F4HVW5, F4IRM4, F4J264, F4JTI1, K7TQE3, O48781, O65573, O80462, O81893, O82387, Q0IY07, Q0WPN7, Q3EBL9, Q3KPR1, Q3ZBK3, Q5BK13, Q5M7V7, Q5M856, Q5MK23, Q5MK24, Q5RHZ2, Q6BDI9, Q6E7H0, Q7X6P3, Q7ZYB4, Q84JN1, Q84M47, Q84WF5, Q8IYF3, Q8L7N4, Q8LBH4, Q8RXH2, Q8S9J3, Q8W032, Q8W4F0, Q94BM7
Diamond homologs: Q14AT2, Q8IYF3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 49 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| flagellated sperm motility | 5 | 16.2× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
180 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 17 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 20 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (17)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1210142 | NM_031276.3(TEX11):c.1751+2T>G | Pathogenic |
| 1210143 | NM_031276.3(TEX11):c.1381-1G>A | Pathogenic |
| 1210144 | NM_031276.3(TEX11):c.2568G>T (p.Trp856Cys) | Pathogenic |
| 1210145 | NM_031276.3(TEX11):c.1006G>T (p.Glu336Ter) | Pathogenic |
| 1210146 | NM_031276.3(TEX11):c.1208dup (p.Asn403fs) | Pathogenic |
| 1210147 | NM_031276.3(TEX11):c.253del (p.Val85fs) | Pathogenic |
| 1210148 | NM_031276.3(TEX11):c.812del (p.Lys271fs) | Pathogenic |
| 192378 | NC_000023.10:g.69954448_70045530del | Pathogenic |
| 3061752 | NM_031276.3(TEX11):c.1008dup (p.Ser337fs) | Pathogenic |
| 3061753 | NM_001003811.2:c.(-157_-99+1)_(738-1_792+1)del | Pathogenic |
| 3061754 | NM_031276.3(TEX11):c.1200G>A (p.Trp400Ter) | Pathogenic |
| 3061755 | NM_001003811.2:c.(652-1_737+1)_(738-1_792+1)del | Pathogenic |
| 3061756 | NM_031276.3(TEX11):c.686G>A (p.Trp229Ter) | Pathogenic |
| 3061762 | NM_031276.3(TEX11):c.1792+1G>C | Pathogenic |
| 3061763 | NM_031276.3(TEX11):c.37+10228del | Pathogenic |
| 3061764 | NM_031276.3(TEX11):c.747+1G>A | Pathogenic |
| 3061765 | NM_001003811.2:c.(159+1_160-1)_(692+1_693-1)del | Pathogenic |
SpliceAI
4800 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:70529851:T:A | donor_gain | 1.0000 |
| X:70529996:CTTT:C | acceptor_gain | 1.0000 |
| X:70530008:C:CT | acceptor_gain | 1.0000 |
| X:70552124:A:AC | donor_gain | 1.0000 |
| X:70552125:C:CC | donor_gain | 1.0000 |
| X:70552125:CA:C | donor_gain | 1.0000 |
| X:70552125:CAGTG:C | donor_gain | 1.0000 |
| X:70552243:TTTG:T | acceptor_gain | 1.0000 |
| X:70552244:TTG:T | acceptor_gain | 1.0000 |
| X:70552245:TG:T | acceptor_gain | 1.0000 |
| X:70552247:C:CC | acceptor_gain | 1.0000 |
| X:70553303:AAC:A | donor_loss | 1.0000 |
| X:70553304:A:C | donor_loss | 1.0000 |
| X:70553305:C:CA | donor_loss | 1.0000 |
| X:70553410:TATTA:T | acceptor_gain | 1.0000 |
| X:70553412:TTA:T | acceptor_gain | 1.0000 |
| X:70553413:TA:T | acceptor_gain | 1.0000 |
| X:70553415:C:CC | acceptor_gain | 1.0000 |
| X:70554649:A:AC | donor_gain | 1.0000 |
| X:70554650:C:CC | donor_gain | 1.0000 |
| X:70554693:C:CA | donor_gain | 1.0000 |
| X:70606952:AACTT:A | donor_loss | 1.0000 |
| X:70606953:ACTT:A | donor_loss | 1.0000 |
| X:70606954:CTTA:C | donor_loss | 1.0000 |
| X:70606955:TTACC:T | donor_loss | 1.0000 |
| X:70606956:TAC:T | donor_loss | 1.0000 |
| X:70606957:A:AC | donor_gain | 1.0000 |
| X:70606957:A:AG | donor_loss | 1.0000 |
| X:70606958:C:CC | donor_gain | 1.0000 |
| X:70606958:C:CT | donor_loss | 1.0000 |
AlphaMissense
6191 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:70853042:C:G | A188P | 0.995 |
| X:70744213:G:C | S248R | 0.992 |
| X:70744213:G:T | S248R | 0.992 |
| X:70744215:T:G | S248R | 0.992 |
| X:70529900:A:G | W889R | 0.991 |
| X:70529900:A:T | W889R | 0.991 |
| X:70529954:A:G | W871R | 0.989 |
| X:70529954:A:T | W871R | 0.989 |
| X:70806712:A:G | W244R | 0.989 |
| X:70806712:A:T | W244R | 0.989 |
| X:70607027:A:G | W643R | 0.984 |
| X:70607027:A:T | W643R | 0.984 |
| X:70873285:A:G | L76P | 0.983 |
| X:70529968:A:G | L866P | 0.982 |
| X:70833593:C:G | A191P | 0.982 |
| X:70853276:G:T | A141D | 0.981 |
| X:70607017:G:T | A646D | 0.980 |
| X:70529944:C:T | G874E | 0.979 |
| X:70873295:C:G | A73P | 0.979 |
| X:70553409:C:G | A781P | 0.978 |
| X:70553408:G:T | A781E | 0.977 |
| X:70853256:C:G | A148P | 0.976 |
| X:70853312:C:T | G129E | 0.976 |
| X:70833566:C:G | A200P | 0.972 |
| X:70529945:C:G | G874R | 0.971 |
| X:70529945:C:T | G874R | 0.971 |
| X:70554741:C:G | A749P | 0.971 |
| X:70605466:A:G | C683R | 0.970 |
| X:70740775:C:G | A272P | 0.970 |
| X:70806708:A:G | L245P | 0.970 |
dbSNP variants (sampled 300 via entrez): RS1000010705 (X:70803780 T>C), RS1000012498 (X:70696624 C>A), RS1000020793 (X:70862119 A>C), RS1000034844 (X:70752000 G>A,C), RS1000044179 (X:70885717 C>G), RS1000055047 (X:70871094 A>C,G), RS1000056883 (X:70725124 T>A), RS1000086966 (X:70751617 A>C), RS1000087487 (X:70810031 C>T), RS1000109178 (X:70888684 C>A,T), RS1000112714 (X:70844939 A>T), RS1000117410 (X:70807410 G>A), RS1000126374 (X:70618481 G>A), RS1000126672 (X:70870606 A>G), RS1000137370 (X:70637915 A>T)
Disease associations
OMIM: gene MIM:300311 | disease phenotypes: MIM:309120
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure, X-linked, 2 | Strong | X-linked |
| male infertility with azoospermia or oligozoospermia due to single gene mutation | Supportive | Autosomal dominant |
Mondo (3): spermatogenic failure, X-linked, 2 (MONDO:0010647), male infertility (MONDO:0005372), (MONDO:0018393)
Orphanet (0):
HPO phenotypes
12 total (12 of 12 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000027 | Azoospermia |
| HP:0000029 | Testicular atrophy |
| HP:0000118 | Phenotypic abnormality |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0001419 | X-linked recessive inheritance |
| 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:0031038 | Spermatogenesis maturation arrest |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006011_36 | Mean corpuscular volume | 3.000000e-08 |
| GCST008151_52 | Waist circumference | 8.000000e-06 |
| GCST008160_11 | Waist circumference | 8.000000e-06 |
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
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| FR900359 | increases phosphorylation | 1 |
| propionaldehyde | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Latex | increases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Valproic Acid | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 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, X-linked, 2
- 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, X-linked, 2