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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MAN2A1
mannosidase alpha class 2A member 1
Chromosome 5 · 5q21.3
NCBI Gene: 4124Ensembl: ENSG00000112893.11HGNC: HGNC:6824UniProt: Q16706
76PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneextracellular exosomeGolgi medial cisternaGolgi apparatusschizophreniaalcohol drinkingCOVID-19smoking initiation
✦AI Summary

MAN2A1 (mannosidase alpha class 2A member 1) is a Golgi-localized enzyme that catalyzes the conversion of high-mannose to complex N-glycans, representing a critical step in N-glycan maturation 1. The enzyme controls the final hydrolytic step in N-glycan processing and is involved in viral protein processing [GO annotations]. Beyond its canonical glycosylation function, MAN2A1 has emerged as a significant factor in human malignancy and neuropsychiatric disease. A MAN2A1-FER fusion protein, expressed in multiple tumor types including hepatocellular carcinoma, non-small cell lung cancer, ovarian and prostate tumors, exhibits constitutively elevated tyrosine kinase activity and promotes cancer cell proliferation, invasion, and metastasis through EGFR-BRAF-MEK-AKT pathway activation 2. Conversely, MAN2A1 inhibition enhances anti-tumor immunity by increasing cancer cell sensitivity to T-cell-mediated killing and synergizes with anti-PD-L1 immunotherapy in preclinical models 1. Genetically, MAN2A1 variants are associated with schizophrenia susceptibility, suggesting altered glycosylation patterns affect neurotransmitter receptor function and brain development 3. MAN2A1 mutations also correlate with rectal neuroendocrine neoplasm progression and lymph node metastasis 4. These findings underscore MAN2A1's dual role in N-glycan biosynthesis and oncogenic signaling, with therapeutic potential as both a kinase inhibitor target and immunomodulatory intervention point.

Sources cited
1
MAN2A1-FER fusion protein is expressed in hepatocellular carcinoma and other tumors; exhibits elevated tyrosine kinase activity; activates EGFR-BRAF-MEK-AKT pathways; increases cell proliferation, invasion, and metastasis
PMID: 28245430
2
MAN2A1 is a key N-glycan maturation enzyme with immunomodulatory effects; MAN2A1 loss increases cancer cell sensitivity to T-cell killing; inhibition synergizes with anti-PD-L1 treatment
PMID: 32723834
3
MAN2A1 variants are associated with schizophrenia susceptibility; the gene encodes a glycosylation enzyme involved in N-glycan processing
PMID: 32377000
4
MAN2A1 mutations identified in large-sized rectal neuroendocrine neoplasms with lymph node metastases
PMID: 39548061
5
MAN2A1-FER ectopically phosphorylates extracellular domains of PDGFRA and other transmembrane proteins; targeting these ectopic phosphorylation sites shows therapeutic promise in HCC
PMID: 39082961
6
MAN2A1 identified as putative target gene of exosomal miRNAs involved in cartilage development and MAPK signaling
PMID: 40823751
7
MAN2A1 identified as immune cell-related differentially expressed gene associated with chronic thromboembolic pulmonary hypertension progression via circRNA-miRNA-mRNA networks
PMID: 33316641
Disease Associationsⓘ20
schizophreniaOpen Targets
0.45Moderate
alcohol drinkingOpen Targets
0.45Moderate
COVID-19Open Targets
0.37Weak
smoking initiationOpen Targets
0.33Weak
joint diseaseOpen Targets
0.30Weak
complicationOpen Targets
0.30Weak
hemorrhageOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.30Weak
mathematical abilityOpen Targets
0.30Weak
intelligenceOpen Targets
0.29Weak
dislocationOpen Targets
0.22Weak
muscular atrophyOpen Targets
0.21Weak
Alzheimer diseaseOpen Targets
0.21Weak
epilepsyOpen Targets
0.20Weak
glomerulonephritisOpen Targets
0.17Weak
Graves diseaseOpen Targets
0.17Weak
liver diseaseOpen Targets
0.17Weak
acute tonsillitisOpen Targets
0.17Weak
hyperpituitarismOpen Targets
0.17Weak
prostate carcinomaOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STX5Protein interaction100%MGAT2Protein interaction98%FUT8Protein interaction98%MGAT1Protein interaction97%MAN1A1Protein interaction97%MAN1B1Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
85%
Lung
47%
Brain
43%
Ovary
37%
Heart
19%
Gene Interaction Network
Click a node to explore
MAN2A1STX5MGAT2FUT8MGAT1MAN1A1MAN1B1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q16706
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.45–0.75]
RankingsWhere MAN2A1 stands among ~20K protein-coding genes
  • #6,254of 20,598
    Most Researched76
  • #5,969of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedMAN2A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MAN2A1-FER Fusion Gene Is Expressed by Human Liver and Other Tumor Types and Has Oncogenic Activity in Mice.
PMID: 28245430
Gastroenterology · 2017
1.00
2
Inhibition of MAN2A1 Enhances the Immune Response to Anti-PD-L1 in Human Tumors.
PMID: 32723834
Clin Cancer Res · 2020
0.90
3
Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research.
PMID: 32377000
Mol Psychiatry · 2020
0.80
4
Homozygous truncating variant in
PMID: 36357165
J Med Genet · 2023
0.70
5
Possible immune regulation mechanisms for the progression of chronic thromboembolic pulmonary hypertension.
PMID: 33316641
Thromb Res · 2021
0.60