MAN2A2
Chr 15mannosidase alpha class 2A member 2
Also known as: MANA2X, alpha-MIIx
MAN2A2 encodes an alpha-mannosidase that catalyzes the first committed step in converting high mannose to complex N-glycans in the Golgi apparatus. Mutations cause alpha-mannosidosis type II, a lysosomal storage disorder with autosomal recessive inheritance that presents with intellectual disability, hearing loss, skeletal abnormalities, and coarse facial features. The gene shows moderate constraint against loss-of-function variants.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MAN2A2 · 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