GCNA
gene geneOn this page
Also known as NAAR1
Summary
GCNA (germ cell nuclear acidic peptidase, HGNC:15805) is a protein-coding gene on chromosome Xq13.1, encoding Germ cell nuclear acidic protein (Q96QF7). May play a role in DNA-protein cross-links (DPCs) clearance through a SUMO-dependent recruitment to sites of DPCs, ensuring the genomic stability by protecting germ cells and early embryos from various sources of damage.
Enables SUMO polymer binding activity. Involved in protein-DNA covalent cross-linking repair. Located in PML body. Implicated in X-linked spermatogenic failure 4.
Source: NCBI Gene 93953 — RefSeq curated summary.
At a glance
- Gene–disease (curated): spermatogenic failure, X-linked, 4 (Strong, GenCC)
- Clinical variants (ClinVar): 184 total — 3 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 14
- MANE Select transcript:
NM_052957
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15805 |
| Approved symbol | GCNA |
| Name | germ cell nuclear acidic peptidase |
| Location | Xq13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NAAR1 |
| Ensembl gene | ENSG00000147174 |
| Ensembl biotype | protein_coding |
| OMIM | 300369 |
| Entrez | 93953 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000373695, ENST00000373696, ENST00000471950, ENST00000917930
RefSeq mRNA: 1 — MANE Select: NM_052957
NM_052957
CCDS: CCDS35326
Canonical transcript exons
ENST00000373696 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000979126 | 71612355 | 71612559 |
| ENSE00001092444 | 71608973 | 71609117 |
| ENSE00001092445 | 71605663 | 71605729 |
| ENSE00001212552 | 71578437 | 71578522 |
| ENSE00001212564 | 71612862 | 71613583 |
| ENSE00001212574 | 71580820 | 71580880 |
| ENSE00001461268 | 71603588 | 71604676 |
| ENSE00001461272 | 71597950 | 71598038 |
| ENSE00001602456 | 71592122 | 71592168 |
| ENSE00001644420 | 71594746 | 71594779 |
| ENSE00001767295 | 71594331 | 71594377 |
| ENSE00001790793 | 71592537 | 71592570 |
| ENSE00003551053 | 71610681 | 71610819 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 88.40.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0228 / max 12.6304, expressed in 11 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 196706 | 0.0228 | 11 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.40 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.07 | gold quality |
| ileal mucosa | UBERON:0000331 | 78.76 | gold quality |
| right testis | UBERON:0004534 | 78.58 | gold quality |
| granulocyte | CL:0000094 | 77.99 | gold quality |
| gastrocnemius | UBERON:0001388 | 77.40 | gold quality |
| sperm | CL:0000019 | 77.17 | gold quality |
| cartilage tissue | UBERON:0002418 | 76.80 | gold quality |
| left testis | UBERON:0004533 | 76.72 | gold quality |
| testis | UBERON:0000473 | 76.50 | gold quality |
| muscle of leg | UBERON:0001383 | 76.35 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 75.70 | gold quality |
| tibialis anterior | UBERON:0001385 | 75.41 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 75.12 | gold quality |
| spleen | UBERON:0002106 | 73.96 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 73.46 | gold quality |
| cerebellar cortex | UBERON:0002129 | 73.31 | gold quality |
| deltoid | UBERON:0001476 | 72.86 | silver quality |
| right hemisphere of cerebellum | UBERON:0014890 | 72.67 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 72.15 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 72.15 | gold quality |
| cerebellum | UBERON:0002037 | 72.03 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 71.62 | gold quality |
| right lobe of liver | UBERON:0001114 | 71.49 | gold quality |
| right adrenal gland | UBERON:0001233 | 71.46 | gold quality |
| calcaneal tendon | UBERON:0003701 | 71.37 | gold quality |
| tibial nerve | UBERON:0001323 | 71.31 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 71.17 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 71.03 | gold quality |
| left adrenal gland | UBERON:0001234 | 70.71 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
37 targeting GCNA, 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-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-8076 | 99.78 | 68.52 | 1170 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-4480 | 99.42 | 66.02 | 735 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-4312 | 99.34 | 67.30 | 511 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-10A-5P | 98.89 | 69.85 | 712 |
| HSA-MIR-10B-5P | 98.89 | 69.86 | 711 |
| HSA-MIR-3074-5P | 98.82 | 66.56 | 1414 |
| HSA-MIR-942-3P | 98.81 | 69.04 | 876 |
| HSA-MIR-7705 | 98.69 | 67.47 | 543 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-6852-3P | 98.54 | 67.60 | 1468 |
| HSA-MIR-4317 | 98.49 | 67.09 | 987 |
| HSA-MIR-4766-3P | 98.48 | 67.94 | 1347 |
| HSA-MIR-4421 | 97.99 | 64.89 | 701 |
| HSA-MIR-1912-5P | 97.94 | 67.98 | 832 |
Literature-anchored findings (GeneRIF, showing 2)
- Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure. (PMID:33963445)
- Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility. (PMID:34413498)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gcna | ENSDARG00000101060 |
| drosophila_melanogaster | Gcna | FBGN0023515 |
| drosophila_melanogaster | CG2694 | FBGN0024991 |
| drosophila_melanogaster | CG11322 | FBGN0031856 |
| caenorhabditis_elegans | WBGENE00022694 |
Protein
Protein identifiers
Germ cell nuclear acidic protein — Q96QF7 (reviewed: Q96QF7)
Alternative names: Acidic repeat-containing protein, Germ cell nuclear acidic peptidase, Germ cell nuclear antigen
All UniProt accessions (1): Q96QF7
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in DNA-protein cross-links (DPCs) clearance through a SUMO-dependent recruitment to sites of DPCs, ensuring the genomic stability by protecting germ cells and early embryos from various sources of damage. Can resolve the topoisomerase II (TOP2A) DPCs.
Subunit / interactions. Interacts (via SIM domains) with SUMO2; this interaction allows the GCNA recruitment to DPCs sites. Interacts with TOP2A; this interaction allows the resolution of topoisomerase II (TOP2A) DNA-protein cross-links.
Subcellular location. Nucleus. PML body. Chromosome.
Tissue specificity. Expressed in germ cells of the testis (at protein level). Detected in skeletal muscle, liver, kidney, pancreas, heart, lung and brain. Expressed throughout spermatogenesis, from spermatogonia to elongated spermatids, in normal adult testis (at protein level).
Disease relevance. Spermatogenic failure, X-linked, 4 (SPGFX4) [MIM:301077] A male infertility disorder characterized by non-obstructive azoospermia or oligoasthenoteratozoospermia. Some patients present spermatogenic maturation arrest with an almost complete absence of early and late primary spermatocytes. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. SUMO interaction motif 1 (SIM) mediates the binding to polysumoylated substrates.
Similarity. Belongs to the serine-aspartate repeat-containing protein (SDr) family.
RefSeq proteins (1): NP_443189* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006640 | SprT-like_domain | Domain |
Pfam: PF10263
UniProt features (34 total): sequence variant 18, compositionally biased region 5, short sequence motif 4, mutagenesis site 4, chain 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96QF7-F1 | 59.13 | 0.21 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 22–25 | impairs sumo2 interaction. loss of sumo2 interaction; when associated with 76-a–a-79, 97-a–a-100 and 121-a–a-124. los |
| 76–79 | impairs sumo2 interaction. loss of sumo2 interaction; when associated with 22-a–a-25, 97-a–a-100 and 121-a–a-124. los |
| 97–100 | impairs sumo2 interaction. loss of sumo2 interaction; when associated with 22-a–a-25, 76-a–a-79 and 121-a–a-124. loss |
| 121–124 | impairs sumo2 interaction. loss of sumo2 interaction; when associated with 22-a–a-25, 76-a–a-79 and 97-a–a-100. loss |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 82 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GOBP_DNA_DAMAGE_RESPONSE, GOCC_NUCLEAR_BODY, GOCC_PML_BODY, GOBP_DNA_METABOLIC_PROCESS, GOMF_UBIQUITIN_LIKE_PROTEIN_BINDING, GOBP_DNA_REPAIR, GOMF_SUMO_BINDING, SENESE_HDAC1_AND_HDAC2_TARGETS_UP, chrXq13, GOMF_SUMO_POLYMER_BINDING, STK33_SKM_UP, H1_6_TARGET_GENES, LMTK3_TARGET_GENES, ZNF184_TARGET_GENES
GO Biological Process (2): protein-DNA covalent cross-linking repair (GO:0106300), DNA damage response (GO:0006974)
GO Molecular Function (2): SUMO polymer binding (GO:0032184), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), PML body (GO:0016605)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA repair | 1 |
| cellular response to stress | 1 |
| SUMO binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| nuclear body | 1 |
Protein interactions and networks
STRING
764 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GCNA | SPRTN | Q9H040 | 745 |
| GCNA | TAF1 | P21675 | 560 |
| GCNA | DAZL | Q92904 | 543 |
| GCNA | STRA8 | Q7Z7C7 | 538 |
| GCNA | SYCP3 | Q8IZU3 | 523 |
| GCNA | FAM111A | Q96PZ2 | 507 |
| GCNA | FRMPD1 | Q5SYB0 | 472 |
| GCNA | TDP2 | O95551 | 447 |
| GCNA | SPO11 | Q9Y5K1 | 440 |
| GCNA | FBXO21 | O94952 | 429 |
| GCNA | FLAD1 | Q8NFF5 | 427 |
| GCNA | ELP4 | Q96EB1 | 425 |
| GCNA | DDX4 | Q9NQI0 | 419 |
| GCNA | NANOS3 | P60323 | 417 |
| GCNA | USP31 | Q70CQ4 | 411 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GCNA | sph | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (6): SUMO2 (Affinity Capture-Western), ACRC (Affinity Capture-MS), HSP90B2P (Cross-Linking-MS (XL-MS)), HSP90B1 (Cross-Linking-MS (XL-MS)), PLCB3 (Cross-Linking-MS (XL-MS)), ACRC (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A1D9BZF0, A6QL64, B4DH59, B5DUH6, D3YZV8, E9Q6E9, O43493, O46383, O77733, P06916, P08116, P0C758, P0DKJ7, P0DKJ8, P0DPF3, P31568, P62521, Q01033, Q01042, Q1HVF7, Q2W8Q7, Q3BBV2, Q42626, Q42627, Q4ZJZ1, Q4ZJZ3, Q5JPF3, Q5MJ10, Q6AXX0, Q6GX35, Q6IC83, Q6P3W6, Q6PGQ1, Q7M4S9, Q7M732, Q86T75, Q8BP27, Q8IZU1, Q8N2N9, Q96QF7
Diamond homologs: A0A0R4IWG9, O42953, Q23462, Q7KW09, Q96QF7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
184 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 1 |
| Uncertain significance | 93 |
| Likely benign | 21 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1180854 | NM_052957.5(GCNA):c.1180G>T (p.Glu394Ter) | Pathogenic |
| 1328948 | NM_052957.5(GCNA):c.1507del (p.Glu504fs) | Pathogenic |
| 1676580 | NM_052957.5(GCNA):c.653_654delinsGC (p.Lys218Ser) | Pathogenic |
| 1244252 | NM_052957.5(GCNA):c.343del (p.Ala115fs) | Likely pathogenic |
SpliceAI
1917 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:71578520:CAG:C | donor_loss | 1.0000 |
| X:71578523:GTAG:G | donor_loss | 1.0000 |
| X:71578524:T:A | donor_loss | 1.0000 |
| X:71592535:A:AG | acceptor_gain | 1.0000 |
| X:71592536:G:GG | acceptor_gain | 1.0000 |
| X:71592536:GCT:G | acceptor_gain | 1.0000 |
| X:71594744:A:AG | acceptor_gain | 1.0000 |
| X:71594745:G:GG | acceptor_gain | 1.0000 |
| X:71594745:GCT:G | acceptor_gain | 1.0000 |
| X:71598012:C:G | donor_gain | 1.0000 |
| X:71603587:GATGA:G | acceptor_gain | 1.0000 |
| X:71605652:ATCT:A | acceptor_gain | 1.0000 |
| X:71605655:T:TA | acceptor_gain | 1.0000 |
| X:71608969:GCAGG:G | acceptor_loss | 1.0000 |
| X:71608970:CA:C | acceptor_loss | 1.0000 |
| X:71608971:A:AC | acceptor_loss | 1.0000 |
| X:71608971:A:AG | acceptor_gain | 1.0000 |
| X:71608971:AG:A | acceptor_gain | 1.0000 |
| X:71608972:G:GT | acceptor_gain | 1.0000 |
| X:71608972:GG:G | acceptor_gain | 1.0000 |
| X:71609113:AAAAG:A | donor_loss | 1.0000 |
| X:71609114:AAAGG:A | donor_loss | 1.0000 |
| X:71609116:AGGTA:A | donor_loss | 1.0000 |
| X:71609118:G:A | donor_loss | 1.0000 |
| X:71609119:T:A | donor_loss | 1.0000 |
| X:71612349:TTCAA:T | acceptor_loss | 1.0000 |
| X:71612350:TCAAG:T | acceptor_loss | 1.0000 |
| X:71612351:CAA:C | acceptor_loss | 1.0000 |
| X:71612352:A:AG | acceptor_gain | 1.0000 |
| X:71612352:AAGA:A | acceptor_loss | 1.0000 |
AlphaMissense
4697 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:71609001:T:C | F499L | 0.953 |
| X:71609003:C:A | F499L | 0.953 |
| X:71609003:C:G | F499L | 0.953 |
| X:71612406:T:C | L601P | 0.951 |
| X:71610777:T:C | F570L | 0.930 |
| X:71610779:T:A | F570L | 0.930 |
| X:71610779:T:G | F570L | 0.930 |
| X:71610705:T:A | W546R | 0.923 |
| X:71610705:T:C | W546R | 0.923 |
| X:71612474:C:G | H624D | 0.915 |
| X:71612476:C:A | H624Q | 0.915 |
| X:71612476:C:G | H624Q | 0.915 |
| X:71610787:T:C | I573T | 0.914 |
| X:71612402:T:A | W600R | 0.911 |
| X:71612402:T:C | W600R | 0.911 |
| X:71612899:T:C | F665L | 0.911 |
| X:71612901:C:A | F665L | 0.911 |
| X:71612901:C:G | F665L | 0.911 |
| X:71609089:T:C | L528P | 0.910 |
| X:71609068:T:C | L521S | 0.903 |
| X:71610707:G:C | W546C | 0.898 |
| X:71610707:G:T | W546C | 0.898 |
| X:71609005:T:C | L500S | 0.897 |
| X:71612404:G:C | W600C | 0.889 |
| X:71612404:G:T | W600C | 0.889 |
| X:71612540:T:A | C646S | 0.889 |
| X:71612541:G:C | C646S | 0.889 |
| X:71612443:G:C | W613C | 0.888 |
| X:71612443:G:T | W613C | 0.888 |
| X:71609100:T:C | S532P | 0.886 |
dbSNP variants (sampled 300 via entrez): RS1000167614 (X:71593174 G>A), RS1000545918 (X:71596569 T>C), RS1000605059 (X:71577782 C>CT), RS1000681564 (X:71597479 G>A), RS1000687217 (X:71581225 A>G), RS1000873953 (X:71604985 G>A), RS1000977475 (X:71607899 G>A), RS1001030161 (X:71596153 T>G), RS1001164776 (X:71581934 C>T), RS1001169665 (X:71589717 G>A), RS1001269447 (X:71605553 T>C), RS1001307009 (X:71588769 G>C), RS1001470472 (X:71601758 C>T), RS1001744318 (X:71602071 C>T), RS1002302565 (X:71598494 G>A)
Disease associations
OMIM: gene MIM:300369 | disease phenotypes: MIM:301077
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| spermatogenic failure, X-linked, 4 | Strong | X-linked |
Mondo (2): spermatogenic failure, X-linked, 4 (MONDO:0024773), azoospermia (MONDO:0100459)
Orphanet (0):
HPO phenotypes
14 total (14 of 14 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000027 | Azoospermia |
| HP:0000118 | Phenotypic abnormality |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0001417 | X-linked inheritance |
| HP:0003251 | Male 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:0011969 | Elevated circulating luteinizing hormone level |
| HP:0040086 | Abnormal prolactin level |
| HP:0040171 | Decreased serum testosterone concentration |
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
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | increases expression | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| 2-butenal | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| ochratoxin A | increases expression | 1 |
| cupric oxide | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| torcetrapib | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Hexachlorocyclohexane | increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Demecolcine | increases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Formaldehyde | increases 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, X-linked, 4
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): azoospermia, spermatogenic failure, X-linked, 4