POMT2
Chr 14ARprotein O-mannosyltransferase 2
Also known as: LGMD2N, LGMDR14, MDDGA2, MDDGB2, MDDGC2
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POMT2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools