GALNT2

Chr 1AR

polypeptide N-acetylgalactosaminyltransferase 2

Also known as: CDG2T, GalNAc-T2

NCBI Gene: 2590 ENSG00000143641 UniProt: Q10471 OMIM: 602274

The protein catalyzes the initial step in O-linked oligosaccharide biosynthesis by transferring N-acetyl-D-galactosamine to serine or threonine residues on target proteins, with particular involvement in immunoglobulin A1 hinge region glycosylation and HDL-C metabolism regulation. Mutations cause congenital disorder of glycosylation type IIt with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.488).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital disorder of glycosylation, type IItMIM #618885

Clinical highlights

Gene-disease validity (ClinGen)

congenital disorder of glycosylation, type iit · ARStrongappropriate for clinical testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.49

LOEUF

Mechanism· predicted