POGLUT2
Chr 13protein O-glucosyltransferase 2
Also known as: EP58, ERp58, KDEL1, KDELC1
This protein is an endoplasmic reticulum glucosyltransferase that modifies extracellular EGF repeats of proteins including NOTCH1, NOTCH3, and fibrillin proteins, potentially regulating Notch signaling and protein transport to the plasma membrane. Mutations cause autosomal recessive limb-girdle muscular dystrophy type R21, which presents with progressive muscle weakness affecting the shoulder and hip girdle muscles. The gene shows no constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POGLUT2 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools