UGGT2
Chr 13UDP-glucose glycoprotein glucosyltransferase 2
Also known as: HUGT2, UGCGL2, UGT2
UGGT2 encodes UDP-glucose:glycoprotein glucosyltransferase, which provides quality control for protein folding in the endoplasmic reticulum by reglucosylating misfolded glycoproteins to allow their recognition by calreticulin for refolding or degradation. Mutations cause autosomal recessive intellectual disability with distinctive facial features and variable congenital anomalies. The gene shows tolerance to loss-of-function variation in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
347 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 81 | 0 | 81 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 193 | 12 | 0 | 205 |
Likely Benign | 0 | 16 | 1 | 3 | 20 |
Benign | 0 | 2 | 2 | 0 | 4 |
| Total | 0 | 211 | 96 | 3 | 310 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UGGT2 · 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