GALNT17
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Also known as GALNTL3GalNAc-T5LGalNAc-T19GalNAc-T17ppGalNAc-T17
Summary
GALNT17 (polypeptide N-acetylgalactosaminyltransferase 17, HGNC:16347) is a protein-coding gene on chromosome 7q11.22, encoding Polypeptide N-acetylgalactosaminyltransferase 17 (Q6IS24). May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.
This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking.
Source: NCBI Gene 64409 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 89 total
- MANE Select transcript:
NM_022479
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16347 |
| Approved symbol | GALNT17 |
| Name | polypeptide N-acetylgalactosaminyltransferase 17 |
| Location | 7q11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GALNTL3, GalNAc-T5L, GalNAc-T19, GalNAc-T17, ppGalNAc-T17 |
| Ensembl gene | ENSG00000185274 |
| Ensembl biotype | protein_coding |
| OMIM | 615137 |
| Entrez | 64409 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000333538, ENST00000447516, ENST00000467723, ENST00000498380
RefSeq mRNA: 1 — MANE Select: NM_022479
NM_022479
CCDS: CCDS5540
Canonical transcript exons
ENST00000333538 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001303800 | 71712018 | 71713599 |
| ENSE00001705539 | 71132144 | 71133040 |
| ENSE00003468602 | 71665411 | 71665596 |
| ENSE00003487520 | 71677211 | 71677306 |
| ENSE00003537317 | 71335550 | 71335733 |
| ENSE00003558805 | 71415889 | 71416063 |
| ENSE00003561571 | 71420908 | 71421105 |
| ENSE00003572329 | 71710761 | 71710928 |
| ENSE00003590000 | 71669972 | 71670109 |
| ENSE00003680888 | 71571285 | 71571402 |
| ENSE00003689083 | 71388235 | 71388401 |
Expression profiles
Bgee: expression breadth ubiquitous, 199 present calls, max score 97.43.
FANTOM5 (CAGE): breadth broad, TPM avg 3.8350 / max 82.4151, expressed in 500 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 78986 | 2.0951 | 457 |
| 78989 | 1.2055 | 343 |
| 78988 | 0.2329 | 175 |
| 78987 | 0.2294 | 150 |
| 204474 | 0.0721 | 35 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| trigeminal ganglion | UBERON:0001675 | 97.43 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 96.89 | gold quality |
| cerebellar vermis | UBERON:0004720 | 96.02 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.35 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.94 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.90 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.87 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.80 | gold quality |
| cerebellum | UBERON:0002037 | 94.68 | gold quality |
| frontal cortex | UBERON:0001870 | 94.44 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.85 | gold quality |
| neocortex | UBERON:0001950 | 93.27 | gold quality |
| apex of heart | UBERON:0002098 | 93.23 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 93.18 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.59 | gold quality |
| tibial nerve | UBERON:0001323 | 92.47 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.27 | gold quality |
| cerebral cortex | UBERON:0000956 | 92.09 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 91.39 | gold quality |
| sural nerve | UBERON:0015488 | 91.38 | gold quality |
| parietal lobe | UBERON:0001872 | 90.96 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.92 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.41 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 90.27 | gold quality |
| Ammon’s horn | UBERON:0001954 | 90.21 | gold quality |
| occipital lobe | UBERON:0002021 | 90.20 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.08 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.47 | gold quality |
| pons | UBERON:0000988 | 89.06 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.06 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 75.40 |
| E-CURD-119 | yes | 47.07 |
| E-ANND-3 | yes | 4.70 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
62 targeting GALNT17, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-5007-3P | 99.51 | 68.14 | 1242 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
Literature-anchored findings (GeneRIF, showing 5)
- a subset of O-glycosylation produced by WBSCR17 controls dynamic membrane trafficking, probably between the cell surface and the late endosomes through macropinocytosis (PMID:22787146)
- GWA study identified maternal genetic effects not previously identified in ASD at a locus in WBSCR17. (PMID:27876814)
- Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study. (PMID:32310270)
- Circ_WBSCR17 aggravates inflammatory responses and fibrosis by targeting miR-185-5p/SOX6 regulatory axis in high glucose-induced human kidney tubular cells. (PMID:32798559)
- Parkinson’s Disease Risk Variant rs9638616 is Non-Specifically Associated with Altered Brain Structure and Function. (PMID:38640170)
Cross-species orthologs
16 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | galnt17 | ENSDARG00000042418 |
| mus_musculus | Galnt17 | ENSMUSG00000034040 |
| rattus_norvegicus | Galnt17 | ENSRNOG00000024435 |
| 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 |
Paralogs (19): GALNT16 (ENSG00000100626), GALNTL5 (ENSG00000106648), 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), GALNT4 (ENSG00000257594)
Protein
Protein identifiers
Polypeptide N-acetylgalactosaminyltransferase 17 — Q6IS24 (reviewed: Q6IS24)
Alternative names: Polypeptide GalNAc transferase-like protein 3, Protein-UDP acetylgalactosaminyltransferase-like protein 3, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 3, Williams-Beuren syndrome chromosomal region 17 protein
All UniProt accessions (3): Q6IS24, H7BZX9, Q2L4S5
UniProt curated annotations — full annotation on UniProt →
Function. May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.
Subcellular location. Golgi apparatus membrane.
Tissue specificity. Highly expressed in brain and heart. Weakly expressed in kidney, liver, lung and spleen.
Disease relevance. WBSCR17 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
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. The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
Pathway. Protein modification; protein glycosylation.
Similarity. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
RefSeq proteins (1): NP_071924* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000772 | Ricin_B_lectin | Domain |
| IPR001173 | Glyco_trans_2-like | Domain |
| IPR029044 | Nucleotide-diphossugar_trans | Homologous_superfamily |
| IPR035992 | Ricin_B-like_lectins | Homologous_superfamily |
| IPR045885 | GalNAc-T | Domain |
Pfam: PF00535, PF00652
Catalyzed reactions (Rhea), 2 shown:
- L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + UDP + H(+) (RHEA:23956)
- L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + UDP + H(+) (RHEA:52424)
UniProt features (23 total): binding site 7, disulfide bond 5, glycosylation site 3, topological domain 2, region of interest 2, chain 1, transmembrane region 1, sequence conflict 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6IS24-F1 | 90.68 | 0.80 |
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): 248; 378; 381; 386; 192; 223; 246
Disulfide bonds (5): 142–373, 364–443, 478–494, 526–541, 568–586
Glycosylation sites (3): 50, 461, 486
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-913709 | O-linked glycosylation of mucins |
MSigDB gene sets: 44 (showing top):
GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, CATTTCA_MIR203, MYOD_01, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, chr7q11, DOUGLAS_BMI1_TARGETS_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GRYDER_PAX3FOXO1_TOP_ENHANCERS, YGCGYRCGC_UNKNOWN, GOMF_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_POLYPEPTIDE_N_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY
GO Biological Process (2): protein O-linked glycosylation (GO:0006493), obsolete protein glycosylation (GO:0006486)
GO Molecular Function (5): polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653), carbohydrate binding (GO:0030246), metal ion binding (GO:0046872), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)
GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), 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 |
|---|---|
| glycoprotein biosynthetic process | 1 |
| acetylgalactosaminyltransferase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| cation binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
848 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GALNT17 | CALN1 | Q9BXU9 | 516 |
| GALNT17 | AUTS2 | Q8WXX7 | 475 |
| GALNT17 | DLGAP4 | Q9Y2H0 | 471 |
| GALNT17 | METTL27 | Q8N6F8 | 419 |
| GALNT17 | CLMP | Q9H6B4 | 408 |
| GALNT17 | B3GALNT2 | Q8NCR0 | 406 |
| GALNT17 | KCNK12 | Q9HB15 | 404 |
| GALNT17 | EOGT | Q5NDL2 | 403 |
| GALNT17 | GTF2I | P78347 | 388 |
| GALNT17 | GABRQ | Q9UN88 | 374 |
| GALNT17 | ZNF608 | Q9ULD9 | 370 |
| GALNT17 | MAN2C1 | Q9NTJ4 | 351 |
| GALNT17 | ASXL2 | Q76L83 | 348 |
| GALNT17 | CCNB3 | Q8WWL7 | 348 |
| GALNT17 | ECSCR | Q19T08 | 347 |
| GALNT17 | RILPL1 | Q5EBL4 | 347 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| SAAL1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (1): WBSCR17 (Synthetic Lethality)
ESM2 similar proteins: A4IGL7, D3ZB51, E9PZ19, O75882, O94779, O95970, P00533, P02469, P07942, P13590, P15209, P24503, P24786, P33150, P39038, P55245, P55283, P68500, P97300, P97527, P97546, Q01279, Q01973, Q03351, Q16288, Q16620, Q1EGL2, Q3B7N0, Q3UQ28, Q5IFJ9, Q5IS37, Q5IS82, Q5R945, Q63604, Q6IS24, Q6VNS1, Q7TPD3, Q7TT15, Q8K4Y5, Q8N475
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
89 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 72 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4747 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:71133036:GAATG:G | donor_gain | 1.0000 |
| 7:71133039:TGGT:T | donor_loss | 1.0000 |
| 7:71133040:GGTAA:G | donor_loss | 1.0000 |
| 7:71133041:G:C | donor_loss | 1.0000 |
| 7:71133042:T:A | donor_loss | 1.0000 |
| 7:71151820:A:AG | acceptor_gain | 1.0000 |
| 7:71151821:G:GA | acceptor_gain | 1.0000 |
| 7:71335545:TCTA:T | acceptor_loss | 1.0000 |
| 7:71335546:CTAG:C | acceptor_loss | 1.0000 |
| 7:71335547:TA:T | acceptor_loss | 1.0000 |
| 7:71335548:A:AG | acceptor_gain | 1.0000 |
| 7:71335549:G:A | acceptor_loss | 1.0000 |
| 7:71335549:G:GG | acceptor_gain | 1.0000 |
| 7:71335549:GGC:G | acceptor_gain | 1.0000 |
| 7:71335549:GGCT:G | acceptor_gain | 1.0000 |
| 7:71335549:GGCTT:G | acceptor_gain | 1.0000 |
| 7:71335729:ACCAA:A | donor_gain | 1.0000 |
| 7:71335730:CCAA:C | donor_gain | 1.0000 |
| 7:71335730:CCAAG:C | donor_loss | 1.0000 |
| 7:71335731:CAA:C | donor_gain | 1.0000 |
| 7:71335732:AA:A | donor_gain | 1.0000 |
| 7:71335734:G:C | donor_loss | 1.0000 |
| 7:71335734:G:GG | donor_gain | 1.0000 |
| 7:71335735:T:A | donor_loss | 1.0000 |
| 7:71388232:CA:C | acceptor_loss | 1.0000 |
| 7:71388233:A:AG | acceptor_gain | 1.0000 |
| 7:71388233:AGGT:A | acceptor_gain | 1.0000 |
| 7:71388234:G:GC | acceptor_gain | 1.0000 |
| 7:71388234:GGT:G | acceptor_gain | 1.0000 |
| 7:71388234:GGTG:G | acceptor_gain | 1.0000 |
AlphaMissense
3912 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:71335705:C:A | R132S | 1.000 |
| 7:71335706:G:C | R132P | 1.000 |
| 7:71388236:T:A | C142S | 1.000 |
| 7:71388237:G:C | C142S | 1.000 |
| 7:71388300:A:T | E163V | 1.000 |
| 7:71388324:C:T | S171F | 1.000 |
| 7:71416036:A:T | D246V | 1.000 |
| 7:71416062:T:A | W255R | 1.000 |
| 7:71416062:T:C | W255R | 1.000 |
| 7:71420908:G:C | W255C | 1.000 |
| 7:71420908:G:T | W255C | 1.000 |
| 7:71421032:T:A | W297R | 1.000 |
| 7:71421032:T:C | W297R | 1.000 |
| 7:71421034:G:C | W297C | 1.000 |
| 7:71421034:G:T | W297C | 1.000 |
| 7:71571384:T:A | N354K | 1.000 |
| 7:71571384:T:G | N354K | 1.000 |
| 7:71665454:G:C | R375P | 1.000 |
| 7:71665462:C:G | H378D | 1.000 |
| 7:71665464:C:A | H378Q | 1.000 |
| 7:71665464:C:G | H378Q | 1.000 |
| 7:71665521:T:A | N397K | 1.000 |
| 7:71665521:T:G | N397K | 1.000 |
| 7:71665543:T:A | W405R | 1.000 |
| 7:71665543:T:C | W405R | 1.000 |
| 7:71677238:T:A | C478S | 1.000 |
| 7:71677238:T:C | C478R | 1.000 |
| 7:71677239:G:C | C478S | 1.000 |
| 7:71677240:C:G | C478W | 1.000 |
| 7:71710836:T:A | C526S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000002244 (7:71343661 A>G), RS1000009427 (7:71344192 C>G,T), RS1000017317 (7:71319346 G>A), RS1000024033 (7:71496590 G>A), RS1000024693 (7:71553889 C>T), RS1000027768 (7:71378776 G>C,T), RS1000037545 (7:71452497 A>G), RS1000039017 (7:71564601 C>A), RS1000043968 (7:71612485 G>A), RS1000053696 (7:71261938 C>T), RS1000056500 (7:71514900 T>G), RS1000061698 (7:71176748 T>A), RS1000063391 (7:71149243 A>T), RS1000066667 (7:71267041 A>G), RS1000067084 (7:71476307 C>T)
Disease associations
OMIM: gene MIM:615137 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001520_18 | Response to angiotensin II receptor blocker therapy | 2.000000e-06 |
| GCST001850_28 | Major depressive disorder | 2.000000e-06 |
| GCST002491_4 | Age-related hearing impairment | 2.000000e-06 |
| GCST002979_2 | Response to montelukast in asthma (change in FEV1) | 9.000000e-07 |
| GCST003264_963 | Post bronchodilator FEV1/FVC ratio | 5.000000e-06 |
| GCST003901_13 | Cognitive decline (age-related) | 3.000000e-06 |
| GCST004749_19 | Lung cancer in ever smokers | 8.000000e-06 |
| GCST007003_2 | Cerebrospinal fluid p-tau levels in normal cognition | 2.000000e-07 |
| GCST007006_5 | Logical memory (delayed recall) in normal cognition | 6.000000e-07 |
| GCST007324_154 | Adventurousness | 1.000000e-12 |
| GCST007327_60 | Smoking status (ever vs never smokers) | 3.000000e-08 |
| GCST008161_67 | Waist circumference adjusted for body mass index | 7.000000e-06 |
| GCST008223_2 | Diabetic peripheral neuropathy in type 2 diabetes | 3.000000e-06 |
| GCST009391_375 | Metabolite levels | 8.000000e-06 |
| GCST011920_1 | Hearing loss in noise exposure | 1.000000e-06 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005921 | FEV change measurement |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004763 | p-tau measurement |
| EFO:0004874 | memory performance |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0010436 | triacylglycerol 56:9 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs7794356 | Efficacy | 3 | montelukast | Asthma |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs7794356 | GALNT17 | 3 | 0.00 | 1 | montelukast |
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, increases methylation | 4 |
| trichostatin A | decreases expression | 1 |
| arsenite | increases methylation | 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, decreases expression | 1 |
| belinostat | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Amiodarone | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): noise induced hearing loss, peripheral neuropathy, presbycusis