GALNT2 gene

polypeptide N-acetylgalactosaminyltransferase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

From UniProt:

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.

From NCBI Gene:

  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt

Cytogenetic Location: 1q42.13, which is the long (q) arm of chromosome 1 at position 42.13

Molecular Location: base pairs 230,057,789 to 230,282,122 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 1q42.13, which is the long (q) arm of chromosome 1 at position 42.13
  • CDG2T
  • GalNAc-T2