MAN2C1
Mannosidase Alpha Class 2C Member 1
Gene Information Card
| Symbol | MAN2C1 |
|---|---|
| Full Name | Mannosidase Alpha Class 2C Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 4123 ncbi.nlm.nih.gov/gene/4123 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9NTJ4 |
| OMIM ID | 154580 |
| HGNC ID | 6827 |
| Aliases | MAN6A8, MAN2C1, 6A8, alpha-mannosidase 2C1 |
Description
MAN2C1 encodes a member of the class 2 alpha-mannosidase family. This enzyme catalyzes the removal of alpha-linked mannose residues from glycoproteins, playing a key role in N-glycan processing and glycoprotein degradation. It is localized to the Golgi apparatus and lysosomes. Mutations in MAN2C1 are associated with congenital disorders of glycosylation and lysosomal storage diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type II | Loss-of-function mutations impair N-glycan processing | ClinVar |
| Mannosidosis, alpha type II | Deficient alpha-mannosidase activity leads to accumulation of mannose-rich oligosaccharides | OMIM |
| Cancer (various) | Altered expression may affect tumor cell glycoprotein metabolism | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Brain | 6.1 | Low |
| Testis | 15.2 | Medium |
| Placenta | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma |
| HEK293 | 11.2 | Embryonic kidney |
| K562 | 7.5 | Leukemia |
| A549 | 9.3 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Ter) | Nonsense | Rare | Loss of function |
| c.1421G>A (p.Arg474Gln) | Missense | 0.01% | Reduced enzymatic activity |
| c.1885delC (p.Leu629TrpfsTer12) | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing glycosylation defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • alpha-mannosidase activity | • mannose metabolic process |
| • Golgi apparatus | • lysosome |
| • N-glycan processing |
Pathways
• N-Glycan biosynthesis
• Lysosome
• Metabolism of carbohydrates
Protein Summary
The MAN2C1 protein is a 1011-amino acid alpha-mannosidase localized to the Golgi and lysosomes. It functions as a homodimer and requires zinc for activity. It cleaves alpha-1,2-, alpha-1,3-, and alpha-1,6-mannose linkages, contributing to glycoprotein maturation and degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAN2C1 Knockout HEK293 Cell Line | EDJ-KQ5168 | Human | 4123 | Details Get a Quote |
| MAN2C1 Knockout A-549 Cell Line | EDJ-KQ28147 | Human | 4123 | Details Get a Quote |
| MAN2C1 Knockout HCT 116 Cell Line | EDJ-KQ28148 | Human | 4123 | Details Get a Quote |
| MAN2C1 Knockout HeLa Cell Line | EDJ-KQ28149 | Human | 4123 | Details Get a Quote |
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