POMGNT2

Chr 3

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

Also known as: AGO61, C3orf39, GTDC2, MDDGA8, MDDGC8

NCBI Gene: 84892 ENSG00000144647 UniProt: Q8NAT1

The encoded protein is an O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that synthesizes phosphorylated O-mannosyl trisaccharides on alpha-dystroglycan, enabling high-affinity binding to laminin and other extracellular matrix proteins. Mutations cause autosomal recessive muscular dystrophy-dystroglycanopathy, ranging from severe congenital forms with brain and eye anomalies to milder limb-girdle presentations. The gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8

UniProtMuscular dystrophy-dystroglycanopathy limb-girdle C8

Clinical highlights

Gene-disease validity (ClinGen)

myopathy caused by variation in POMGNT2 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.01

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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