MAN1A2
Mannosidase Alpha Class 1A Member 2
Gene Information Card
| Symbol | MAN1A2 |
|---|---|
| Full Name | Mannosidase Alpha Class 1A Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 10905 ncbi.nlm.nih.gov/gene/10905 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | O60488 |
| OMIM ID | 604345 |
| HGNC ID | 6822 |
| Aliases | MAN1A2, MAN1B, MAN1C, alpha-1,2-mannosidase |
Description
MAN1A2 encodes a class I alpha-mannosidase that localizes to the Golgi apparatus and is involved in the early steps of N-glycan processing. It catalyzes the removal of alpha-1,2-linked mannose residues from Man9GlcNAc2 to produce Man5GlcNAc2, a critical step in the biosynthesis of complex N-glycans. The enzyme is essential for proper glycoprotein maturation and quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorders of glycosylation (CDG) | Deficient mannosidase activity leads to abnormal N-glycan processing | PMID: 25644350 |
| Cancer (various) | Altered MAN1A2 expression may affect tumor cell glycosylation and metastasis | PMID: 28479384 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.5 | Low |
| Heart | 7.2 | Low |
| Lung | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 11.2 | Medium expression |
| HepG2 | 13.0 | High expression |
| A549 | 9.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Reduced enzymatic activity |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants reducing or abolishing mannosidase activity, leading to N-glycan processing defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • alpha-mannosidase activity | • mannosyl-oligosaccharide 1 |
| • 2-alpha-mannosidase activity | • Golgi apparatus |
| • N-glycan processing | • protein N-linked glycosylation |
Pathways
• N-Glycan biosynthesis
• Protein processing in endoplasmic reticulum
Protein Summary
MAN1A2 is a 642-amino acid type II transmembrane protein localized to the Golgi. It contains a catalytic domain with a conserved (alpha/beta)8 barrel fold and a short N-terminal cytoplasmic tail. The enzyme removes specific mannose residues from Man9GlcNAc2, generating Man5GlcNAc2, which is the substrate for subsequent glycosyltransferases. Its activity is essential for the formation of complex and hybrid N-glycans.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAN1A2 Knockout HEK293 Cell Line | EDJ-KQ7210 | Human | 10905 | Details Get a Quote |
| MAN1A2 Knockout A-549 Cell Line | EDJ-KQ32155 | Human | 10905 | Details Get a Quote |
| MAN1A2 Knockout HCT 116 Cell Line | EDJ-KQ32156 | Human | 10905 | Details Get a Quote |
| MAN1A2 Knockout HeLa Cell Line | EDJ-KQ32157 | Human | 10905 | Details Get a Quote |
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