POMT2

Chr 14

protein O-mannosyltransferase 2

Also known as: LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2

NCBI Gene: 29954 ENSG00000009830 UniProt: Q9UKY4

The protein is an endoplasmic reticulum O-mannosyltransferase that works with POMT1 to add mannose residues to proteins, critical for proper glycosylation of dystroglycan. Autosomal recessive mutations cause a spectrum of muscular dystrophy-dystroglycanopathy disorders ranging from severe congenital forms with brain and eye anomalies (including Walker-Warburg syndrome) to milder limb-girdle presentations. The pathogenic mechanism involves dominant-negative effects that disrupt normal protein glycosylation.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2

UniProtMuscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2

UniProtMuscular dystrophy-dystroglycanopathy limb-girdle C2

Clinical highlights

Gene-disease validity (ClinGen)

myopathy caused by variation in POMT2 · 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

0.80

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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