GALNTL5
geneOn this page
Also known as GalNAc-T5L
Summary
GALNTL5 (polypeptide N-acetylgalactosaminyltransferase like 5, HGNC:21725) is a protein-coding gene on chromosome 7q36.1, encoding Inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 (Q7Z4T8). Probable inactive glycosyltransferase required during spermatid development.
Predicted to enable metal ion binding activity and transferase activity. Involved in spermatid development. Predicted to be located in late endosome membrane. Predicted to be active in Golgi apparatus.
Source: NCBI Gene 168391 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 91 total — 1 likely-pathogenic
- MANE Select transcript:
NM_145292
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21725 |
| Approved symbol | GALNTL5 |
| Name | polypeptide N-acetylgalactosaminyltransferase like 5 |
| Location | 7q36.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GalNAc-T5L |
| Ensembl gene | ENSG00000106648 |
| Ensembl biotype | protein_coding |
| OMIM | 615133 |
| Entrez | 168391 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 2 protein_coding
ENST00000392800, ENST00000414073, ENST00000416062, ENST00000416269, ENST00000426341, ENST00000431418, ENST00000448366, ENST00000468278, ENST00000482845, ENST00000483959
RefSeq mRNA: 1 — MANE Select: NM_145292
NM_145292
CCDS: CCDS5929
Canonical transcript exons
ENST00000392800 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001139240 | 151982986 | 151983152 |
| ENSE00001837391 | 152019646 | 152019929 |
| ENSE00001920642 | 151956446 | 151956609 |
| ENSE00002295800 | 151967208 | 151967493 |
| ENSE00003470956 | 152007827 | 152007944 |
| ENSE00003509814 | 151970945 | 151971065 |
| ENSE00003534831 | 152002714 | 152002963 |
| ENSE00003536532 | 151987159 | 151987281 |
| ENSE00003578318 | 152014644 | 152014793 |
Expression profiles
Bgee: expression breadth broad, 66 present calls, max score 99.71.
FANTOM5 (CAGE): breadth broad, TPM avg 6.0288 / max 311.4799, expressed in 619 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 35545 | 6.0288 | 619 |
| 82119 | 0.0716 | 3 |
| 82118 | 0.0121 | 3 |
Top tissues by expression
211 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.71 | gold quality |
| left testis | UBERON:0004533 | 89.25 | gold quality |
| right testis | UBERON:0004534 | 88.64 | gold quality |
| testis | UBERON:0000473 | 86.72 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.34 | gold quality |
| endothelial cell | CL:0000115 | 83.95 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.36 | silver quality |
| adult organism | UBERON:0007023 | 76.46 | gold quality |
| prefrontal cortex | UBERON:0000451 | 75.13 | gold quality |
| right frontal lobe | UBERON:0002810 | 71.62 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 70.97 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 70.80 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 70.76 | gold quality |
| frontal cortex | UBERON:0001870 | 70.50 | gold quality |
| neocortex | UBERON:0001950 | 69.00 | gold quality |
| cerebral cortex | UBERON:0000956 | 66.36 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 66.02 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 64.96 | silver quality |
| amygdala | UBERON:0001876 | 64.48 | gold quality |
| Ammon’s horn | UBERON:0001954 | 59.81 | gold quality |
| putamen | UBERON:0001874 | 59.78 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 59.47 | gold quality |
| temporal lobe | UBERON:0001871 | 59.33 | gold quality |
| caudate nucleus | UBERON:0001873 | 57.77 | gold quality |
| forebrain | UBERON:0001890 | 57.63 | gold quality |
| primary visual cortex | UBERON:0002436 | 56.30 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 54.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 54.23 | gold quality |
| kidney epithelium | UBERON:0004819 | 53.93 | gold quality |
| nucleus accumbens | UBERON:0001882 | 53.82 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.05 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting GALNTL5, 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-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-653-5P | 99.46 | 67.35 | 1300 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-4504 | 99.10 | 69.14 | 1328 |
| HSA-MIR-302F | 98.44 | 69.02 | 1776 |
| HSA-MIR-581 | 98.39 | 67.42 | 835 |
| HSA-MIR-4781-3P | 95.78 | 65.66 | 572 |
Literature-anchored findings (GeneRIF, showing 1)
- Mutation of GALNTL5 gene identified in patients diagnosed with asthenozoospermia. (PMID:30628500)
Cross-species orthologs
19 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | galnt6 | ENSDARG00000014386 |
| danio_rerio | galnt11 | ENSDARG00000063636 |
| mus_musculus | Galntl5 | ENSMUSG00000028938 |
| rattus_norvegicus | Galntl5 | ENSRNOG00000040301 |
| drosophila_melanogaster | Pgant35A | FBGN0001970 |
| drosophila_melanogaster | Pgant7 | FBGN0030930 |
| drosophila_melanogaster | Pgant5 | FBGN0031681 |
| drosophila_melanogaster | Pgant6 | FBGN0035375 |
| drosophila_melanogaster | CG7304 | FBGN0036527 |
| drosophila_melanogaster | CG7579 | FBGN0036528 |
| drosophila_melanogaster | Pgant8 | FBGN0036529 |
| drosophila_melanogaster | Pgant9 | FBGN0050463 |
| drosophila_melanogaster | CG31776 | FBGN0051776 |
| drosophila_melanogaster | Pgant4 | FBGN0051956 |
| caenorhabditis_elegans | WBGENE00001628 | |
| caenorhabditis_elegans | WBGENE00001630 | |
| caenorhabditis_elegans | WBGENE00001632 | |
| caenorhabditis_elegans | WBGENE00001635 | |
| caenorhabditis_elegans | WBGENE00001636 |
Paralogs (19): GALNT16 (ENSG00000100626), GALNT7 (ENSG00000109586), GALNT18 (ENSG00000110328), GALNT3 (ENSG00000115339), GALNT12 (ENSG00000119514), GALNT8 (ENSG00000130035), GALNT15 (ENSG00000131386), GALNT5 (ENSG00000136542), GALNT6 (ENSG00000139629), GALNT1 (ENSG00000141429), GALNT2 (ENSG00000143641), GALNT13 (ENSG00000144278), GALNT14 (ENSG00000158089), GALNT10 (ENSG00000164574), GALNTL6 (ENSG00000174473), GALNT11 (ENSG00000178234), GALNT9 (ENSG00000182870), GALNT17 (ENSG00000185274), GALNT4 (ENSG00000257594)
Protein
Protein identifiers
Inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 — Q7Z4T8 (reviewed: Q7Z4T8)
Alternative names: Polypeptide GalNAc transferase 15, Protein-UDP acetylgalactosaminyltransferase 15, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 15
All UniProt accessions (2): Q7Z4T8, D3DX14
UniProt curated annotations — full annotation on UniProt →
Function. Probable inactive glycosyltransferase required during spermatid development. May participate in protein loading into the acrosomes and accumulation of ubiquitin-proteasome systems around the head-tail coupling apparatus region.
Subcellular location. Late endosome membrane.
Tissue specificity. Mainly expressed in testis. Weakly or not expressed in other tissues.
Disease relevance. Defects in GALNTL5 have been found in a patient with primary infertility due to asthenozoospermia.
Domain organisation. There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
Similarity. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z4T8-1 | 1 | yes |
| Q7Z4T8-2 | 2 |
RefSeq proteins (1): NP_660335* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001173 | Glyco_trans_2-like | Domain |
| IPR029044 | Nucleotide-diphossugar_trans | Homologous_superfamily |
| IPR045885 | GalNAc-T | Domain |
Pfam: PF00535
Enzyme classification (BRENDA):
- EC 2.4.1.41 — polypeptide N-acetylgalactosaminyltransferase (BRENDA: 21 organisms, 537 substrates, 86 inhibitors, 206 Km, 52 kcat entries)
Substrate kinetics (BRENDA)
71 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| UDP-GALNAC | 0.0017–16 | 32 |
| UDP-N-ACETYL-D-GALACTOSAMINE | 0.008–0.081 | 11 |
| PTTDSTTPAPTTK | 0.042–1.02 | 7 |
| GTTPSPVPTTSTTSAP | 0.0259–0.344 | 5 |
| MUC5AC-13 | 0.018–0.77 | 5 |
| MUC5AC-3 | 0.033–0.107 | 5 |
| STPSTPSTPSTPSTP | 0.2–0.65 | 5 |
| CPPTPSATTPAPPSSSAPPETTAA | 0.01–0.48 | 4 |
| DSTTPAPTTK | 0.07–2.19 | 4 |
| GTTPSPVPTTST[GALNAC]TSAP | 0.115–0.46 | 4 |
| GT[GALNAC]TPSPVPTTSTTSAP | 0.035–0.332 | 4 |
| UDP-GAL | 0.027–0.041 | 4 |
| GVVPTVVPG | 1.74–17.6 | 3 |
| IGA HINGE | 0.01–0.02 | 3 |
| IGA HINGE-4GALNAC | 0.12–0.81 | 3 |
UniProt features (20 total): binding site 7, topological domain 2, disulfide bond 2, splice variant 2, sequence variant 2, region of interest 2, chain 1, glycosylation site 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z4T8-F1 | 85.63 | 0.69 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (7): 229; 332; 360; 174; 204; 227; 228
Disulfide bonds (2): 124–355, 346–422
Glycosylation sites (1): 87
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-913709 | O-linked glycosylation of mucins |
MSigDB gene sets: 178 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_MALE_GAMETE_GENERATION, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, FOSTER_TOLERANT_MACROPHAGE_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, WAGNER_APO2_SENSITIVITY, RIGGI_EWING_SARCOMA_PROGENITOR_DN, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, TGACATY_UNKNOWN, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, MODULE_48, MODULE_95, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION
GO Biological Process (3): spermatid development (GO:0007286), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)
GO Molecular Function (2): metal ion binding (GO:0046872), transferase activity (GO:0016740)
GO Cellular Component (4): Golgi apparatus (GO:0005794), late endosome membrane (GO:0031902), endosome (GO:0005768), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| O-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endomembrane system | 2 |
| germ cell development | 1 |
| spermatid differentiation | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| cation binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
790 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GALNTL5 | SPATA16 | Q9BXB7 | 544 |
| GALNTL5 | GOLGA6L7 | A0A1B0GV03 | 507 |
| GALNTL5 | ACSBG2 | Q5FVE4 | 492 |
| GALNTL5 | CCDC126 | Q96EE4 | 480 |
| GALNTL5 | DNAH1 | Q9P2D7 | 476 |
| GALNTL5 | DNAI3 | Q8IWG1 | 469 |
| GALNTL5 | WBP2NL | Q6ICG8 | 468 |
| GALNTL5 | OR5AR1 | Q8NGP9 | 465 |
| GALNTL5 | NME8 | Q8N427 | 458 |
| GALNTL5 | LVRN | Q6Q4G3 | 456 |
| GALNTL5 | OR5M11 | Q96RB7 | 456 |
| GALNTL5 | RHOU | Q7L0Q8 | 453 |
| GALNTL5 | OR5J2 | Q8NH18 | 445 |
| GALNTL5 | DPY19L2 | Q6NUT2 | 444 |
| GALNTL5 | OR2I1 | Q8NGU4 | 434 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GALNTL5 | PDIA3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GALNTL5 | AHNAK | psi-mi:“MI:0915”(physical association) | 0.400 |
| GALNTL5 | SCAP | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (13): GALNTL5 (Reconstituted Complex), GALNTL5 (Proximity Label-MS), GALNTL5 (Proximity Label-MS), SCAP (Affinity Capture-MS), RPL10 (Cross-Linking-MS (XL-MS)), GALNTL5 (Cross-Linking-MS (XL-MS)), RPL10 (Cross-Linking-MS (XL-MS)), RPL10 (Cross-Linking-MS (XL-MS)), MTA1 (Cross-Linking-MS (XL-MS)), OCLN (Cross-Linking-MS (XL-MS)), GALNTL5 (Affinity Capture-MS), RPL10 (Cross-Linking-MS (XL-MS)), GALNTL5 (Two-hybrid)
ESM2 similar proteins: A2AUQ7, A5GFW8, A6NG13, A7RX69, D3ZNQ3, E9PU17, E9PX95, E9Q649, G3V9Q9, L7YAI7, O15466, O43173, P0DN25, P38566, P38567, P48794, P61644, P61645, P61646, P70126, P97402, Q02742, Q09363, Q11068, Q17678, Q21389, Q2NKH9, Q2YDM8, Q4R5T7, Q4V8F8, Q60V90, Q62803, Q64689, Q64690, Q64692, Q6ZNI0, Q6ZXC8, Q6ZXC9, Q71SG7, Q7Z4J2
Diamond homologs: A8Y236, H0ZAB5, O08832, O08912, O45293, O45947, O61394, O61397, O88422, P34678, P70419, Q07537, Q10471, Q10472, Q10473, Q14435, Q29121, Q49A17, Q5EA41, Q5RFJ6, Q6DJR8, Q6IS24, Q6P6V1, Q6P9A2, Q6P9S7, Q6PB93, Q6UE39, Q6WV16, Q6WV17, Q6WV19, Q6WV20, Q7K755, Q7TT15, Q7Z4T8, Q7Z7M9, Q80VA0, Q86SF2, Q86SR1, Q8BGT9, Q8BVG5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
91 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 76 |
| Likely benign | 6 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 996331 | NM_145292.4(GALNTL5):c.153dup (p.Val52fs) | Likely pathogenic |
SpliceAI
1786 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:151971062:AAAT:A | donor_gain | 1.0000 |
| 7:151971066:G:GG | donor_gain | 1.0000 |
| 7:152002711:CA:C | acceptor_loss | 1.0000 |
| 7:152002712:A:C | acceptor_loss | 1.0000 |
| 7:152002712:AGG:A | acceptor_gain | 1.0000 |
| 7:152002713:GGG:G | acceptor_gain | 1.0000 |
| 7:152002848:GAGTA:G | donor_gain | 1.0000 |
| 7:152007900:GA:G | donor_gain | 1.0000 |
| 7:152007916:G:GT | donor_gain | 1.0000 |
| 7:152007916:G:T | donor_gain | 1.0000 |
| 7:152007943:GG:G | donor_gain | 1.0000 |
| 7:152007944:GG:G | donor_gain | 1.0000 |
| 7:151971056:G:GT | donor_gain | 0.9900 |
| 7:151971056:GGA:G | donor_gain | 0.9900 |
| 7:151971057:GAG:G | donor_gain | 0.9900 |
| 7:151971064:AT:A | donor_gain | 0.9900 |
| 7:151973707:GAA:G | donor_gain | 0.9900 |
| 7:152002712:A:AG | acceptor_gain | 0.9900 |
| 7:152002712:AG:A | acceptor_gain | 0.9900 |
| 7:152002712:AGGG:A | acceptor_gain | 0.9900 |
| 7:152002713:G:GT | acceptor_gain | 0.9900 |
| 7:152002713:GG:G | acceptor_gain | 0.9900 |
| 7:152002713:GGGG:G | acceptor_gain | 0.9900 |
| 7:152002713:GGGGA:G | acceptor_gain | 0.9900 |
| 7:152002807:T:TA | donor_gain | 0.9900 |
| 7:152002808:G:GA | donor_gain | 0.9900 |
| 7:152007821:TTCTA:T | acceptor_loss | 0.9900 |
| 7:152007822:TCTA:T | acceptor_loss | 0.9900 |
| 7:152007823:CTAGG:C | acceptor_loss | 0.9900 |
| 7:152007824:TA:T | acceptor_loss | 0.9900 |
AlphaMissense
2934 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:152014776:T:A | W387R | 0.958 |
| 7:152014776:T:C | W387R | 0.958 |
| 7:152019751:T:G | Y428D | 0.942 |
| 7:152019733:T:A | C422S | 0.925 |
| 7:152019734:G:C | C422S | 0.925 |
| 7:152019742:T:C | F425L | 0.921 |
| 7:152019744:T:A | F425L | 0.921 |
| 7:152019744:T:G | F425L | 0.921 |
| 7:152002881:T:C | F276L | 0.906 |
| 7:152002883:T:A | F276L | 0.906 |
| 7:152002883:T:G | F276L | 0.906 |
| 7:152014778:G:C | W387C | 0.903 |
| 7:152014778:G:T | W387C | 0.903 |
| 7:152019752:A:C | Y428S | 0.897 |
| 7:152014647:T:A | W344R | 0.896 |
| 7:152014647:T:C | W344R | 0.896 |
| 7:152002899:T:C | F282L | 0.894 |
| 7:152002901:T:A | F282L | 0.894 |
| 7:152002901:T:G | F282L | 0.894 |
| 7:152019720:G:C | R417S | 0.888 |
| 7:152019720:G:T | R417S | 0.888 |
| 7:152014763:A:C | R382S | 0.884 |
| 7:152014763:A:T | R382S | 0.884 |
| 7:152002728:T:C | F225L | 0.878 |
| 7:152002730:C:A | F225L | 0.878 |
| 7:152002730:C:G | F225L | 0.878 |
| 7:152019766:T:C | F433L | 0.875 |
| 7:152019768:C:A | F433L | 0.875 |
| 7:152019768:C:G | F433L | 0.875 |
| 7:152019733:T:C | C422R | 0.873 |
dbSNP variants (sampled 300 via entrez): RS1000090339 (7:151982115 A>G), RS1000154777 (7:151981677 C>A,G,T), RS1000181584 (7:151975022 A>G), RS1000199596 (7:151958429 C>G,T), RS1000288156 (7:152014174 C>T), RS1000326598 (7:151998204 C>T), RS1000355453 (7:151968741 G>A), RS1000370964 (7:152009231 C>T), RS1000393454 (7:152009610 C>T), RS1000427160 (7:151962968 A>C), RS1000480627 (7:152002201 A>C), RS1000492191 (7:152001948 T>C), RS1000498909 (7:151963221 C>A,T), RS1000543390 (7:151986156 C>A,T), RS1000640168 (7:151996365 C>A)
Disease associations
OMIM: gene MIM:615133 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): male infertility (MONDO:0005372)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002720_4 | Kidney function decline traits | 2.000000e-07 |
| GCST003264_1366 | Post bronchodilator FEV1/FVC ratio | 6.000000e-08 |
| GCST003264_1619 | Post bronchodilator FEV1/FVC ratio | 1.000000e-06 |
| GCST008970_5 | Gout | 9.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006836 | rapid kidney function decline |
| EFO:0004713 | FEV/FVC ratio |
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
3 total (human), top 3 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Valproic Acid | increases expression | 2 |
| trichostatin A | increases expression | 1 |
Clinical trials (associated diseases)
125 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02202382 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Male Infertility |
| NCT02204826 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study |
| NCT03802864 | PHASE4 | COMPLETED | Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine |
| NCT06100432 | PHASE4 | ACTIVE_NOT_RECRUITING | Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males |
| NCT07523022 | PHASE4 | ENROLLING_BY_INVITATION | Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups |
| NCT00975117 | PHASE3 | COMPLETED | Spermotrend in the Treatment of Male Infertility |
| NCT01407432 | PHASE3 | COMPLETED | Impact of Folates in the Care of the Male Infertility |
| NCT01895816 | PHASE3 | COMPLETED | Herbal Tonic Fertile Supplement(ZO2C5) |
| NCT02605070 | PHASE3 | TERMINATED | Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia |
| NCT07402759 | PHASE3 | ACTIVE_NOT_RECRUITING | Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men |
| NCT01880086 | PHASE2 | COMPLETED | Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration |
| NCT02061384 | PHASE2 | COMPLETED | RA-2 13-cis Retinoic Acid (Isotretinoin) |
| NCT02421887 | PHASE2 | COMPLETED | Males, Antioxidants, and Infertility Trial |
| NCT05200663 | PHASE2 | UNKNOWN | Efficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility |
| NCT05290558 | PHASE2 | ACTIVE_NOT_RECRUITING | The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial |
| NCT06091969 | PHASE2 | NOT_YET_RECRUITING | Supplementation for Male Subfertility |
| NCT01595308 | PHASE1 | COMPLETED | A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers |
| NCT02122211 | PHASE1 | COMPLETED | Choline Dehydrogenase and Sperm Function: Effects of Betaine |
| NCT02575924 | PHASE1 | UNKNOWN | Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility |
| NCT01304927 | PHASE2/PHASE3 | COMPLETED | Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial |
| NCT02349945 | PHASE2/PHASE3 | COMPLETED | FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy |
| NCT05222841 | PHASE2/PHASE3 | COMPLETED | The Effectiveness of Spermotrend Food Supplement in the Treatment of Male Infertility |
| NCT05616598 | PHASE2/PHASE3 | COMPLETED | Effect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters |
| NCT02025270 | PHASE1/PHASE2 | COMPLETED | MSCs For Treatment of Azoospermic Patients |
| NCT04541459 | EARLY_PHASE1 | UNKNOWN | Validation of New Devices Against Ambient Electromagnetic Radiation |
| NCT05792813 | EARLY_PHASE1 | UNKNOWN | Efficacy and Safety of Linggui Yangyuan Paste in Patients With Male Infertility |
| NCT06188936 | EARLY_PHASE1 | COMPLETED | Home Semen Analysis Tests As a Screening Tool for Fertility Patients |
| NCT00012480 | Not specified | COMPLETED | Effect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm |
| NCT00044369 | Not specified | COMPLETED | Role of the Toxic Metal Cadmium in the Mechanism Producing Infertility With a Varicocele |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
| NCT00178516 | Not specified | COMPLETED | Vitamin E and Male Infertility |
| NCT00315029 | Not specified | COMPLETED | Patient-Centered Implementation Trial for Single Embryo Transfer |
| NCT00341120 | Not specified | COMPLETED | Genetic Causes of Male Infertility |
| NCT00481403 | Not specified | COMPLETED | Study of Sperm Molecular Factors Implicated in Male Fertility |
| NCT00548977 | Not specified | COMPLETED | Genetic Studies Spermatogenic Failure |
| NCT00596739 | Not specified | COMPLETED | A Study of the Pre- and Post-operative Semen Analyses and Reproductive Hormone Levels of Men Undergoing Weight-reduction Surgery |
| NCT00756561 | Not specified | COMPLETED | HOP-2A - Intratesticular Hormone Levels |
| NCT00961558 | Not specified | TERMINATED | Canadian Varicocelectomy Initiative (CVI): Effects on Male Fertility and Testicular Function of Varicocelectomy |
| NCT01075334 | Not specified | UNKNOWN | Is a Carnitine Based Food Supplement (PorimoreTM) for Infertile Men Superior to Folate and Zinc With Regard to Pregnancy Rates in Intrauterine Insemination Cycles? |
| NCT01178463 | Not specified | UNKNOWN | Spermatogonial Stem Cells in Azoospermic Patients: a Comparison Between Obstructive and Non-obstructive Azoospermia |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): gout, male infertility