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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MAN1A2
mannosidase alpha class 1A member 2
Chromosome 1 · 1p12
NCBI Gene: 10905Ensembl: ENSG00000198162.12HGNC: HGNC:6822UniProt: O60476
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusextracellular exosomemembranemannosyl-oligosaccharide 1,2-alpha-mannosidase activityinsomniasmoking initiationchronic primary adrenal insufficiencyfamilial glucocorticoid deficiency
✦AI Summary

MAN1A2 encodes mannosyl-oligosaccharide 1,2-α-mannosidase, a Golgi-resident enzyme that catalyzes progressive trimming of α-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2) during N-glycan maturation 1. Beyond its canonical glycosylation role, MAN1A2 has critical developmental functions. Genetic variants in MAN1A2 are significantly associated with biliary atresia, wherein man1a2 knockdown in zebrafish causes poor biliary network formation, ciliary dysgenesis, and hepatobiliary heterotaxy through dysregulated EGFR signaling pathways 2. Man1a2 knockout mice exhibit respiratory failure with reduced lung ciliation and portal inflammation 2. Gestational N-acetyl-cysteine treatment improves survival and lung ciliation in heterozygous Man1a2 mutants by mitigating oxidative and hypoxic stress 3. In cardiovascular disease, N-palmitoyl glycine promotes depression-associated atrial fibrillation by upregulating Man1a2 expression, reducing autophagy and disrupting intercalated disc integrity 4. MAN1A2 also shows non-linear associations with venous thromboembolism via endothelium development pathways 5, and genetic variants associate with SARS-CoV-2 infection susceptibility in Chinese populations 6. Clinically, MAN1A2 circular RNA dysregulation affects cisplatin chemotherapy sensitivity in esophageal squamous cell carcinoma 7.

Sources cited
1
MAN1A2 encodes α1,2-mannosidase that progressively trims mannose residues during N-glycan maturation in the Golgi
PMID: 29475941
2
MAN1A2 variants associate with biliary atresia; man1a2 regulates biliary morphogenesis, ciliogenesis, and developmental laterality
PMID: 33192543
3
Man1a2 mutation causes impaired lung ciliation and respiratory failure; N-acetyl-cysteine can rescue phenotype in heterozygotes
PMID: 34366878
4
Man1a2 upregulation mediates depression-associated atrial fibrillation by reducing autophagy and disrupting intercalated disc proteins
PMID: 40581749
5
MAN1A2 shows non-linear association with venous thromboembolism through endothelium development pathways
PMID: 40664692
6
MAN1A2 genetic variants associate with SARS-CoV-2 infection susceptibility in Chinese population
PMID: 35927536
7
CircMAN1A2 formation regulates cisplatin sensitivity in esophageal squamous cell carcinoma
PMID: 34688610
8
MAN1A2 knockout in HEK293 cells produces recombinant proteins with simplified high-mannose-type N-glycans
PMID: 31102532
Disease Associationsⓘ20
insomniaOpen Targets
0.38Weak
smoking initiationOpen Targets
0.33Weak
chronic primary adrenal insufficiencyOpen Targets
0.32Weak
familial glucocorticoid deficiencyOpen Targets
0.32Weak
type 2 diabetes mellitusOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.30Weak
injuryOpen Targets
0.30Weak
diabetic ketoacidosisOpen Targets
0.27Weak
skin diseaseOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.22Weak
obstructive sleep apneaOpen Targets
0.19Weak
mathematical abilityOpen Targets
0.15Weak
Congenital pulmonary alveolar proteinosisOpen Targets
0.07Suggestive
Neonatal acute respiratory distress with surfactant metabolism deficiencyOpen Targets
0.07Suggestive
congenital lobar emphysemaOpen Targets
0.06Suggestive
Pulmonary capillary hemangiomatosisOpen Targets
0.05Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.05Suggestive
surfactant metabolism dysfunction, pulmonary, 1Open Targets
0.05Suggestive
autoimmune pulmonary alveolar proteinosisOpen Targets
0.05Suggestive
breast angiosarcomaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MGAT1Protein interaction94%MAN1C1Protein interaction79%MAN1A1Protein interaction77%MAN2A2Protein interaction77%MAN2A1Protein interaction74%MAN1B1Protein interaction69%
Tissue Expression6 tissues
Brain
100%
Heart
70%
Liver
65%
Bone Marrow
47%
Ovary
47%
Lung
39%
Gene Interaction Network
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MAN1A2MGAT1MAN1C1MAN1A1MAN2A2MAN2A1MAN1B1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O60476
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.32 [0.21–0.53]
RankingsWhere MAN1A2 stands among ~20K protein-coding genes
  • #8,219of 20,598
    Most Researched55
  • #3,267of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedMAN1A2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Linear and non-linear proteome-wide association studies provide novel insight into venous thromboembolism.
PMID: 40664692
Nat Commun · 2025
1.00
2
Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality.
PMID: 33192543
Front Physiol · 2020
0.90
3
N-palmitoyl glycine mediates depression-associated atrial fibrillation via Man1a2-dependent autophagy and NRAP dysregulation.
PMID: 40581749
Europace · 2025
0.80
4
Mechanisms of Impaired Lung Development and Ciliation in Mannosidase-1-Alpha-2 (
PMID: 34366878
Front Physiol · 2021
0.70
5
Genetic disruption of multiple α1,2-mannosidases generates mammalian cells producing recombinant proteins with high-mannose-type
PMID: 29475941
J Biol Chem · 2018
0.60