GALNT2

Chr 1q42.13

polypeptide N-acetylgalactosaminyltransferase 2

Aliases:: GalNAc-T2
MANE:: ENST00000366672.5

OMIM: 602274 ↗NCBI: 2590 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

GALNT2 · Q10471

v62025-08-01

Predicted Aligned Error matrix for GALNT2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.8/ 100

Confident

571 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)10%
Low(50–70)3%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital disorder of glycosylation, type iit
0.78
metabolic syndrome
0.48
familial lipoprotein lipase deficiency
0.47
familial hyperlipidemia
0.43
alcohol drinking
0.43
insomnia
0.39
metabolic dysfunction-associated steatotic liver disease
0.36
coronary artery disorder
0.36
hyperlipidemia
0.35
physical activity
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Polypeptide N-acetylgalactosaminyltransferase 2

Catalyzes 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. Has a broad spectrum of substrates for peptides such as EA2, Muc5AC, Muc1a, Muc1b. Probably involved in O-linked glycosylation of the immunoglobulin A1 (IgA1) hinge region. Involved in O-linked glycosylation of APOC-III, ANGPTL3 and PLTP. It participates in the regulation of HDL-C metabolism (PubMed:27508872, PubMed:32293671)