MAN2A1

Chr 5

mannosidase alpha class 2A member 1

Also known as: AMan II, GOLIM7, MANA2, MANII

NCBI Gene: 4124ENSG00000112893UniProt: Q16706

This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]

ResearchGenerating clinical summary…
LOEUF 0.62
Clinical Summary— MAN2A1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.000
Z-score 3.98
OE 0.45 (0.33–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.43Z-score
OE missense 0.95 (0.89–1.02)
560 obs / 589.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.33–0.62)
0≤0.351.4
Missense OE?0.95 (0.89–1.02)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 27 / 60.3Missense obs/exp: 560 / 589.2Syn Z: -2.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MAN2A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients