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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GALNT16
polypeptide N-acetylgalactosaminyltransferase 16
Chromosome 14 · 14q24.1
NCBI Gene: 57452Ensembl: ENSG00000100626.18HGNC: HGNC:23233UniProt: Q68VJ8
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
polypeptide N-acetylgalactosaminyltransferase activityprotein O-linked glycosylation via N-acetyl-galactosamineprotein O-linked glycosylationGolgi apparatusphysical activitypost-traumatic stress disorderadolescent idiopathic scoliosisIntrahepatic cholestasis of pregnancy
✦AI Summary

GALNT16 encodes polypeptide N-acetylgalactosaminyltransferase 16, a Golgi-localized enzyme that catalyzes the initial step of O-linked oligosaccharide biosynthesis by transferring N-acetyl-D-galactosamine residues to serine or threonine residues on protein receptors. This enzymatic activity initiates mucin-type O-linked glycosylation, a critical post-translational modification affecting protein function. Genetically predicted elevated GALNT16 levels show protective effects against diabetic retinopathy risk (OR = 0.832; P = 0.008), identifying it as a potential therapeutic target 1. In cancer contexts, GALNT16 polymorphisms associate with breast cancer susceptibility in Chinese populations, with specific variants linked to increased risk in younger patients and correlation with tumor progression markers 2. Conversely, circular RNA derived from GALNT16 suppresses colorectal cancer progression by enhancing hnRNPK SUMOylation and hnRNPK-p53 complex formation, which inhibits pro-tumorigenic Serpine1 expression 3. GALNT16 was identified as a tumor-specific antigen in hepatocellular carcinoma relevant for mRNA vaccine development 4. Additionally, GALNT16 variants associate with cardiovascular disease through lipid metabolism pathways 5, and the gene has been implicated in milk composition traits in dairy cattle 6. Recent evidence links GALNT16 variants to familial schizophrenia, suggesting aberrant glycosylation may contribute to neuropsychiatric pathology 7.

Sources cited
1
GALNT16 high levels show protective effect on diabetic retinopathy risk (OR = 0.832; P = 0.008) and identification as potential drug target
PMID: 39541108
2
GALNT16 polymorphisms associate with breast cancer susceptibility, with rs2105269 and rs72625676 linked to increased risk in younger patients and tumor progression
PMID: 31286696
3
Circular GALNT16 suppresses colorectal cancer progression through hnRNPK SUMOylation and hnRNPK-p53 complex-mediated Serpine1 inhibition
PMID: 34452628
4
GALNT16 identified as tumor-specific antigen dysregulated and mutated in hepatocellular carcinoma for mRNA vaccine development
PMID: 36038676
5
GALNT16 is a lipid-species-associated locus associated with cardiovascular disease risk through lipid metabolism
PMID: 31551469
6
GALNT16 identified as candidate gene associated with milk protein and fat composition traits in dairy cattle
PMID: 28356085
7
GALNT16 missense variant identified in familial schizophrenia cases, implicating aberrant glycosylation in disease pathogenesis
PMID: 37105505
Disease Associationsⓘ20
physical activityOpen Targets
0.45Moderate
post-traumatic stress disorderOpen Targets
0.36Weak
adolescent idiopathic scoliosisOpen Targets
0.31Weak
Intrahepatic cholestasis of pregnancyOpen Targets
0.29Weak
mathematical abilityOpen Targets
0.29Weak
heart failureOpen Targets
0.26Weak
pulmonary edemaOpen Targets
0.23Weak
duodenitisOpen Targets
0.23Weak
Abruptio PlacentaeOpen Targets
0.22Weak
placenta praeviaOpen Targets
0.22Weak
intelligenceOpen Targets
0.16Weak
breast cancerOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
Abnormality of refractionOpen Targets
0.06Suggestive
neurotic disorderOpen Targets
0.05Suggestive
musculoskeletal system diseaseOpen Targets
0.05Suggestive
hyperaldosteronismOpen Targets
0.04Suggestive
adrenal gland hyperfunctionOpen Targets
0.04Suggestive
smoking cessationOpen Targets
0.04Suggestive
fungal infectious diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GALNT4Shared pathway100%GALNT6Shared pathway100%GALNT8Shared pathway100%GALNT9Shared pathway100%GALNT10Shared pathway100%GALNTL6Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
23%
Ovary
7%
Liver
6%
Lung
5%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GALNT16GALNT4GALNT6GALNT8GALNT9GALNT10GALNTL6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q68VJ8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.47Tolerant
Observed/Expected LoF0.40 [0.28–0.58]
RankingsWhere GALNT16 stands among ~20K protein-coding genes
  • #14,433of 20,598
    Most Researched19
  • #3,916of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedGALNT16
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Potential Drug Targets for Diabetic Retinopathy Identified Through Mendelian Randomization Analysis.
PMID: 39541108
Transl Vis Sci Technol · 2024
1.00
2
Evaluation of GALNT16 polymorphisms to breast cancer risk in Chinese population.
PMID: 31286696
Mol Genet Genomic Med · 2019
0.89
3
Circ-GALNT16 restrains colorectal cancer progression by enhancing the SUMOylation of hnRNPK.
PMID: 34452628
J Exp Clin Cancer Res · 2021
0.78
4
Discovery and characterization of tumor antigens in hepatocellular carcinoma for mRNA vaccine development.
PMID: 36038676
J Cancer Res Clin Oncol · 2023
0.67
5
CNV discovery for milk composition traits in dairy cattle using whole genome resequencing.
PMID: 28356085
BMC Genomics · 2017
0.56