MAN2B2
Chr 4ARmannosidase alpha class 2B member 2
Also known as: CDG1EE, EpMAN
The protein specifically cleaves terminal alpha 1,6-linked mannose residues on small core oligosaccharides during N-glycan degradation pathways. Mutations cause congenital disorder of glycosylation type 1EE with or without immunodeficiency, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants (LOEUF 1.011), suggesting complete loss of function may be required for disease manifestation.
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
432 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 | 3 | 82 | 0 | 85 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 3 | 237 | 7 | 0 | 247 |
Likely Benign | 1 | 23 | 0 | 14 | 38 |
Benign | 0 | 5 | 17 | 7 | 29 |
| Total | 4 | 268 | 113 | 21 | 406 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MAN2B2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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