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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GALNT2
polypeptide N-acetylgalactosaminyltransferase 2
Chromosome 1 Β· 1q42.13
NCBI Gene: 2590Ensembl: ENSG00000143641.11HGNC: HGNC:4124UniProt: A0A1L7NY50
153PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Golgi stackmembraneprotein bindingmanganese ion bindingcongenital disorder of glycosylation, type iitmetabolic syndromefamilial lipoprotein lipase deficiencyfamilial hyperlipidemia
✦AI Summary

GALNT2 (polypeptide N-acetylgalactosaminyltransferase 2) catalyzes the initial transfer of N-acetyl-D-galactosamine to serine or threonine residues, initiating O-linked glycosylation of diverse protein substrates 1. This post-translational modification regulates critical physiological processes including lipid metabolism, insulin sensitivity, and immune function. Mechanistically, GALNT2-dependent O-linked glycosylation modulates the function of key metabolic proteins including APOC-III, ANGPTL3, and PLTP, affecting HDL-C metabolism and lipid homeostasis 2. Recently, GALNT2 was identified as an interferon-stimulated antiviral gene that restricts respiratory virus infections through O-glycosylation of viral spike proteins, blocking virus-cell fusion and reducing COVID-19 severity 3. Additionally, GALNT2 participates in human axon guidance during neurodevelopment 4. Genetically, GALNT2 variants associate with metabolic disease risk. The rs4846914 polymorphism correlates with hypertension susceptibility 5 and insulin resistance in obese PCOS patients 6. Loss-of-function variants increase hospitalization risk following SARS-CoV-2 infection 3. Functionally, GALNT2 is implicated in atherogenic dyslipidemia, type 2 diabetes, and obesity through pleiotropic effects on insulin signaling and lipid metabolism 1. Pathogenic mutations cause congenital disorder of glycosylation 2T 7.

Sources cited
1
GALNT2 is an interferon-stimulated antiviral gene restricting coronavirus and influenza replication; O-glycosylation of viral spike protein blocks virus-cell fusion; variants losing antiviral function increase SARS-CoV-2 hospitalization risk
PMID: 41387548
2
GALNT2 associated with plasma lipid traits in genome-wide association study of >100,000 individuals; validated in mouse models for lipoprotein metabolism
PMID: 20686565
3
GALNT2 loss impairs floor plate-mediated axon guidance in human midline assembloids
PMID: 40674484
4
GALNT2 regulates O-linked glycosylation affecting insulin sensitivity, lipid metabolism, and fat homeostasis; implicated in dyslipidemia, type 2 diabetes, and obesity through pleiotropic effects
PMID: 35055114
5
GALNT2 rs4846914 polymorphism associated with increased hypertension risk in Chinese Han population
PMID: 26405973
6
GALNT2 rs4846914 AA genotype associated with increased fasting insulin and insulin resistance in obese PCOS patients
PMID: 33171515
7
GALNT2 homozygous truncating variants identified in consanguineous family with neurodevelopmental disorder; associated with congenital disorder of glycosylation 2T
PMID: 28097321
Disease Associationsβ“˜21
congenital disorder of glycosylation, type iitOpen Targets
0.78Strong
metabolic syndromeOpen Targets
0.49Moderate
familial lipoprotein lipase deficiencyOpen Targets
0.48Moderate
familial hyperlipidemiaOpen Targets
0.44Moderate
alcohol drinkingOpen Targets
0.44Moderate
insomniaOpen Targets
0.39Weak
coronary artery diseaseOpen Targets
0.36Weak
physical activityOpen Targets
0.35Weak
coronary artery calcificationOpen Targets
0.35Weak
hyperlipidemiaOpen Targets
0.34Weak
major depressive disorderOpen Targets
0.34Weak
coronary atherosclerosisOpen Targets
0.34Weak
response to statinOpen Targets
0.33Weak
liver diseaseOpen Targets
0.31Weak
asthmaOpen Targets
0.30Weak
osteomyelitisOpen Targets
0.30Weak
sign or symptomOpen Targets
0.29Weak
Methicillin-Resistant Staphylococcus Aureus InfectionOpen Targets
0.29Weak
hemolytic anemiaOpen Targets
0.27Weak
splenic diseaseOpen Targets
0.25Weak
Congenital disorder of glycosylation 2TUniProt
Pathogenic Variants8
NM_004481.5(GALNT2):c.598C>T (p.Arg200Ter)Pathogenic
Congenital disorder of glycosylation, type iit|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 200
NM_004481.5(GALNT2):c.691G>T (p.Glu231Ter)Likely pathogenic
Congenital disorder of glycosylation, type iit
β˜…β˜†β˜†β˜†2026β†’ Residue 231
NM_004481.5(GALNT2):c.1076A>G (p.His359Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 359
NM_004481.5(GALNT2):c.623G>A (p.Arg208Gln)Likely pathogenic
Congenital disorder of glycosylation, type iit
β˜…β˜†β˜†β˜†2020β†’ Residue 208
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser)Likely pathogenic
Congenital disorder of glycosylation, type iit
β˜…β˜†β˜†β˜†2020β†’ Residue 104
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro)Likely pathogenic
Congenital disorder of glycosylation, type iit
β˜…β˜†β˜†β˜†2020β†’ Residue 210
NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter)Pathogenic
Congenital disorder of glycosylation, type iit
β˜…β˜†β˜†β˜†2020β†’ Residue 289
NM_004481.5(GALNT2):c.296dup (p.Tyr99Ter)Pathogenic
Congenital disorder of glycosylation, type iit
β˜†β˜†β˜†β˜†2020β†’ Residue 99
View on ClinVar β†—
Related Genes
C1GALT1Protein interaction98%C1GALT1C1Protein interaction97%GCNT1Protein interaction97%B3GNT6Protein interaction96%ST6GALNAC1Protein interaction94%B4GALNT1Protein interaction82%
Tissue Expression6 tissues
Liver
100%
Ovary
41%
Lung
38%
Heart
34%
Brain
21%
Bone Marrow
12%
Gene Interaction Network
Click a node to explore
GALNT2C1GALT1C1GALT1C1GCNT1B3GNT6ST6GALNAC1B4GALNT1
PROTEIN STRUCTURE
Preparing viewer…
PDB5AJO Β· 1.48 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.52Moderately Constrained
pLIβ“˜
0.89Intermediate
Observed/Expected LoF0.38 [0.28–0.52]
RankingsWhere GALNT2 stands among ~20K protein-coding genes
  • #2,952of 20,598
    Most Researched153 Β· top quartile
  • #3,041of 5,498
    Most Pathogenic Variants8
  • #3,157of 17,882
    Most Constrained (LOEUF)0.52 Β· top quartile
Genes detectedGALNT2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Interferon-stimulated gene GALNT2 restricts respiratory virus infections.
PMID: 41387548
Nat Microbiol Β· 2026
1.00
2
Biological, clinical and population relevance of 95 loci for blood lipids.
PMID: 20686565
Nature Β· 2010
0.90
3
Midline assembloids reveal regulators of human axon guidance.
PMID: 40674484
Science Β· 2025
0.80
4
Air pollution exacerbates cardiovascular-kidney-metabolic syndrome and sarcopenia comorbidity via shared genetic-epigenetic mechanisms: A multi-omics and Mendelian Randomization study.
PMID: 41270966
Metabolism Β· 2026
0.72
5
Integrative single-cell analysis of LUAD: elucidating immune cell dynamics and prognostic modeling based on exhausted CD8+ T cells.
PMID: 38596689
Front Immunol Β· 2024
0.70