GALNT2: Polypeptide N-Acetylgalactosaminyltransferase 2
Key enzyme in mucin-type O-glycosylation, associated with lipid metabolism and cardiovascular disease risk
Gene Information Card
| Symbol | GALNT2 |
|---|---|
| Full Name | Polypeptide N-acetylgalactosaminyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 2590 ncbi.nlm.nih.gov/gene/2590 |
| Ensembl ID | ENSG00000143641 |
| UniProt ID | Q10471 |
| OMIM ID | 602274 |
| HGNC ID | 4124 |
| Aliases | GalNAc-T2, GalNAc transferase 2, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2 |
Description
GALNT2 encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family. This enzyme initiates mucin-type O-linked glycosylation by transferring N-acetylgalactosamine (GalNAc) to serine or threonine residues on target proteins. GALNT2 is involved in the O-glycosylation of apolipoproteins and other proteins, influencing lipid metabolism, particularly HDL cholesterol levels. Genetic variants in GALNT2 have been associated with altered HDL cholesterol and cardiovascular disease risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease (HDL cholesterol levels) | GALNT2 variants affect O-glycosylation of apolipoproteins, modulating HDL metabolism and plasma lipid levels. | GWAS studies (PMID: 19060906, 20686565) |
| Familial combined hyperlipidemia | Rare variants in GALNT2 may disrupt lipid homeostasis through altered glycosylation of lipid-related proteins. | Case-control studies (PMID: 23505323) |
| Cancer (colorectal, pancreatic) | Altered GALNT2 expression influences O-glycosylation of cell surface proteins, affecting tumor progression and metastasis. | Expression profiling and functional studies (PMID: 25670082, 28411305) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Small intestine | 6.8 | Medium |
| Colon | 5.9 | Low |
| Stomach | 5.2 | Low |
| Heart | 3.4 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.2 | High expression |
| Caco-2 (colon) | 9.8 | Medium expression |
| MCF7 (breast) | 4.5 | Low expression |
| HeLa (cervical) | 3.1 | Low expression |
| A549 (lung) | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs4846914 (intronic) | SNV | 0.35 (MAF in Europeans) | Associated with HDL cholesterol levels; regulatory effect on expression |
| rs2144300 (intronic) | SNV | 0.28 (MAF in Europeans) | Linked to lipid traits in GWAS |
| c.1003C>T (p.Arg335Trp) | Missense | Rare | Potential loss of function; reported in ClinVar as uncertain significance |
| c.1246G>A (p.Gly416Ser) | Missense | Rare | Reported in COSMIC in colorectal cancer samples |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg335Trp) may reduce catalytic activity, leading to altered O-glycosylation of substrates like apolipoproteins.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or databases.
Dominant Negative (DN)
No evidence for dominant-negative effects; GALNT2 functions as a monomeric enzyme.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mucin-type O-glycan biosynthesis (KEGG: hsa00512)
• Metabolism of proteins (Reactome: R-HSA-392499)
• O-linked glycosylation of mucins (Reactome: R-HSA-913709)
Protein Summary
The GALNT2 protein (GalNAc-T2) is a type II transmembrane glycosyltransferase localized to the Golgi apparatus. It catalyzes the initial step of mucin-type O-glycosylation, transferring GalNAc from UDP-GalNAc to serine/threonine residues. The enzyme has a catalytic domain with a GT-A fold and a lectin domain that aids substrate recognition. GalNAc-T2 is expressed in multiple tissues, with highest levels in liver and pancreas. It plays a critical role in the O-glycosylation of apolipoproteins (e.g., ApoC-III, ApoE), influencing lipid metabolism and HDL cholesterol levels. Dysregulation of GALNT2 is implicated in cardiovascular disease and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GALNT2 Knockout HEK293 Cell Line | EDJ-KQ4674 | Human | 2590 | Details Get a Quote |
| GALNT2 Knockout HCT 116 Cell Line | EDJ-KQ26126 | Human | 2590 | Details Get a Quote |
| GALNT2 Knockout A-549 Cell Line | EDJ-KQ27365 | Human | 2590 | Details Get a Quote |
| GALNT2 Knockout HeLa Cell Line | EDJ-KQ27367 | Human | 2590 | Details Get a Quote |
