MAN2A1
Mannosidase Alpha Class 2A Member 1
Gene Information Card
| Symbol | MAN2A1 |
|---|---|
| Full Name | mannosidase alpha class 2A member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q21.3 |
| NCBI Gene ID | 4124 ncbi.nlm.nih.gov/gene/4124 |
| Ensembl ID | ENSG00000112893 |
| UniProt ID | Q16706 |
| OMIM ID | 154582 |
| HGNC ID | 6824 |
| Aliases | AMAN, GOLIM, MANA2, MANII, GOLIMAN |
Description
MAN2A1 encodes Golgi alpha-mannosidase II, an enzyme that catalyzes the final hydrolytic step in the N-glycan maturation pathway, converting high-mannose to complex-type glycans. This enzyme is essential for proper glycoprotein processing and is localized to the Golgi apparatus. Mutations in MAN2A1 cause congenital disorder of glycosylation type II (CDG-II), and altered expression is implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type II (MAN2A1-CDG) | Loss-of-function mutations in MAN2A1 impair N-glycan processing, leading to accumulation of hybrid-type glycans and multisystemic defects. | OMIM #154582; PMID: 19576563 |
| Hepatocellular carcinoma | Overexpression of MAN2A1 promotes aberrant glycosylation and tumor metastasis. | PMID: 23376921 |
| Prostate cancer | MAN2A1 expression is upregulated and associated with poor prognosis. | PMID: 25642764 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 42.3 | High |
| Kidney | 28.7 | Medium |
| Small intestine | 25.1 | Medium |
| Pancreas | 18.9 | Medium |
| Brain | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 35.4 | Hepatocellular carcinoma cell line |
| HEK293 | 22.1 | Embryonic kidney cells |
| HeLa | 15.8 | Cervical adenocarcinoma cells |
| MCF7 | 12.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1991G>A (p.Arg664Gln) | Missense | Rare | Loss of enzymatic activity; associated with CDG-II |
| c.2485C>T (p.Arg829Trp) | Missense | Rare | Impaired Golgi localization and catalytic function |
| c.2920C>T (p.Arg974*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations in MAN2A1 reduce or abolish alpha-mannosidase activity, leading to defective N-glycan processing and CDG-II.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MAN2A1.
Dominant Negative (DN)
No evidence of dominant-negative effects; MAN2A1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • alpha-mannosidase activity | • Golgi apparatus |
| • N-glycan processing | • carbohydrate metabolic process |
| • protein glycosylation |
Pathways
• N-glycan biosynthesis
• Metabolism of carbohydrates
Protein Summary
Golgi alpha-mannosidase II is a 1144-amino-acid type II transmembrane protein localized to the Golgi. It forms a homodimer and requires zinc for catalytic activity. The enzyme removes terminal alpha-1,3- and alpha-1,6-linked mannose residues from GlcNAcMan5GlcNAc2 to produce GlcNAcMan3GlcNAc2, a key step in complex N-glycan formation. Defects lead to CDG-II, and overexpression in cancers correlates with metastatic potential.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAN2A1 Knockout HEK293 Cell Line | EDJ-KQ2493 | Human | 4124 | Details Get a Quote |
| MAN2A1 Knockout A-549 Cell Line | EDJ-KQ23083 | Human | 4124 | Details Get a Quote |
| MAN2A1 Knockout HCT 116 Cell Line | EDJ-KQ23084 | Human | 4124 | Details Get a Quote |
| MAN2A1 Knockout HeLa Cell Line | EDJ-KQ23085 | Human | 4124 | Details Get a Quote |
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