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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GALNT9
polypeptide N-acetylgalactosaminyltransferase 9
Chromosome 12 · 12q24.33
NCBI Gene: 50614Ensembl: ENSG00000182870.13HGNC: HGNC:4131UniProt: J3KNN1
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
polypeptide N-acetylgalactosaminyltransferase activityprotein O-linked glycosylationGolgi apparatusprotein O-linked glycosylation via N-acetyl-galactosamineneurodegenerative diseasenephrotic syndromeCOVID-19pelvic organ prolapse
✦AI Summary

GALNT9 (polypeptide N-acetylgalactosaminyltransferase 9) catalyzes the initial step of mucin-type O-linked glycosylation by transferring N-acetyl-D-galactosamine to serine or threonine residues on protein substrates 1. This Golgi-localized enzyme mediates the addition of O-GalNAc glycans to cell surface proteins, including adhesion molecules like Annexin A2 2. GALNT9 plays critical roles in disease pathogenesis across multiple contexts. In neuroendocrine cancers, aberrantly elevated GALNT9 expression drives liver-specific metastasis by decorating cancer cell surfaces with O-GalNAc glycans that activate mannose-binding lectin complement signaling, triggering platelet activation and thrombus formation 2. Conversely, GALNT9 deficiency contributes to Parkinson's disease pathogenesis by reducing dopamine levels and promoting α-synuclein aggregation through impaired glycosylation of mitochondrial proteins (ACO2, ATP5B, CKB, CKMT1A, ALDOC), leading to mitochondrial dysfunction, ROS accumulation, and apoptosis 13. GALNT9 expression serves as a favorable prognostic marker in neuroblastoma, correlating with improved overall and disease-free survival 4. Additionally, GALNT9 methylation in circulating cell-free DNA shows promise as a noninvasive biomarker for colorectal cancer screening 5, and rare variants in GALNT9 are associated with papillary thyroid carcinoma risk 6. GALNT9 loss-of-function variants also link to late-onset corneal dystrophies in aging populations 7.

Sources cited
1
GALNT9 catalyzes initial step of mucin-type O-glycosylation by linking N-acetylgalactosamine to serine/threonine residues; GALNT9 deficiency in Parkinson's disease reduces dopamine and promotes α-synuclein aggregation through impaired glycosylation of mitochondrial energy metabolism proteins
PMID: 38401583
2
Elevated GALNT9 expression in neuroendocrine cancer cells drives O-GalNAc glycosylation of Annexin A2, activating mannose-binding lectin complement signaling and facilitating hepatic metastasis through platelet activation and thrombus formation
PMID: 40492591
3
GALNT9 supplementation ameliorates MPP+-induced cytotoxicity by increasing dopamine levels, reducing apoptosis, and preventing mitochondrial dysfunction and α-synuclein aggregation in neuronal cells
PMID: 39237967
4
GALNT9 expression is a favorable prognostic marker in neuroblastoma, associated with improved overall and disease-free survival independent of risk stratification covariates
PMID: 23136245
5
Serum methylation of GALNT9 combined with UPF3A serves as a noninvasive biomarker for early detection of colorectal cancer and advanced adenomas with 78.8% sensitivity and 100% specificity
PMID: 37794510
6
GALNT9 rare inactivating variants are strongly associated with papillary thyroid carcinoma risk in Middle Eastern populations
PMID: 37686511
7
GALNT9 loss-of-function is linked to late-adult corneal dystrophies in knockout mice, potentially relevant to late-onset human corneal diseases
PMID: 40323269
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
nephrotic syndromeOpen Targets
0.22Weak
COVID-19Open Targets
0.21Weak
pelvic organ prolapseOpen Targets
0.17Weak
sialadenitisOpen Targets
0.16Weak
skin cancerOpen Targets
0.13Weak
Fuchs endothelial corneal dystrophyOpen Targets
0.09Suggestive
X-linked corneal dermoidOpen Targets
0.08Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.08Suggestive
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.07Suggestive
autosomal dominant keratitisOpen Targets
0.07Suggestive
Lisch epithelial corneal dystrophyOpen Targets
0.07Suggestive
Central cloudy dystrophy of FrancoisOpen Targets
0.07Suggestive
central cloudy dystrophy of FrançoisOpen Targets
0.07Suggestive
Schnyder corneal dystrophyOpen Targets
0.07Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.07Suggestive
granular corneal dystrophy type IOpen Targets
0.07Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.06Suggestive
lattice corneal dystrophy type IOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GALNT4Shared pathway100%GALNT6Shared pathway100%GALNT8Shared pathway100%GALNTL6Shared pathway100%GALNT18Shared pathway100%GALNT15Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Ovary
16%
Bone Marrow
11%
Liver
4%
Lung
2%
Heart
0%
Gene Interaction Network
Click a node to explore
GALNT9GALNT4GALNT6GALNT8GALNTL6GALNT18GALNT15
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HCQ5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.68–1.08]
RankingsWhere GALNT9 stands among ~20K protein-coding genes
  • #16,458of 20,598
    Most Researched12
  • #11,009of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedGALNT9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
O-GalNAc Glycosylation Activates MBL-Mediated Complement and Coagulation Cascades to Drive Organotropic Metastasis.
PMID: 40492591
Adv Sci (Weinh) · 2025
1.00
2
Deficiency of polypeptide N-acetylgalactosamine transferase 9 contributes to a risk for Parkinson's disease via mitochondrial dysfunctions.
PMID: 38401583
Int J Biol Macromol · 2024
0.90
3
GALNT9 gene expression is a prognostic marker in neuroblastoma patients.
PMID: 23136245
Clin Chem · 2013
0.80
4
GALNT9 enrichment attenuates MPP
PMID: 39237967
Biol Direct · 2024
0.70
5
Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas.
PMID: 37794510
Clin Epigenetics · 2023
0.60