MAN2B1
Mannosidase Alpha Class 2B Member 1
Gene Information Card
| Symbol | MAN2B1 |
|---|---|
| Full Name | Mannosidase Alpha Class 2B Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.13 |
| NCBI Gene ID | 4125 ncbi.nlm.nih.gov/gene/4125 |
| Ensembl ID | ENSG00000104723 |
| UniProt ID | O00754 |
| OMIM ID | 609458 |
| HGNC ID | 6826 |
| Aliases | LAMAN, MANB, lysosomal alpha-mannosidase |
Description
MAN2B1 encodes lysosomal alpha-mannosidase, an enzyme that cleaves alpha-linked mannose residues from glycoproteins. Deficiency leads to alpha-mannosidosis, an autosomal recessive lysosomal storage disorder characterized by intellectual disability, skeletal abnormalities, and immune deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alpha-mannosidosis | Loss-of-function mutations in MAN2B1 reduce or abolish lysosomal alpha-mannosidase activity, causing accumulation of mannose-rich oligosaccharides in lysosomes. | ClinVar, OMIM #248500 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Brain | 8.5 | Low |
| Lung | 7.1 | Low |
| Spleen | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocellular carcinoma |
| HEK 293 | 11.2 | Embryonic kidney |
| K-562 | 9.8 | Leukemia |
| A549 | 8.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2248C>T (p.Arg750Ter) | Nonsense | <1% | Premature stop, loss of enzyme activity |
| c.1552G>A (p.Gly518Arg) | Missense | <1% | Reduced catalytic activity |
| c.752C>T (p.Pro251Leu) | Missense | <1% | Impaired protein folding and trafficking |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic MAN2B1 mutations cause loss of enzymatic activity, leading to alpha-mannosidosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mannosidase activity | • lysosome |
| • carbohydrate metabolic process | • glycoprotein catabolic process |
Pathways
• Lysosome
• Glycan degradation
Protein Summary
Lysosomal alpha-mannosidase (UniProt O00754) is a 1011-amino-acid glycoprotein that localizes to lysosomes. It hydrolyzes terminal alpha-linked mannose residues from N-glycans. The enzyme is synthesized as a precursor and proteolytically processed into three subunits (A, B, C) that form the active multimer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAN2B1 Knockout HEK293 Cell Line | EDJ-KQ5170 | Human | 4125 | Details Get a Quote |
| MAN2B1 Knockout A-549 Cell Line | EDJ-KQ26922 | Human | 4125 | Details Get a Quote |
| MAN2B1 Knockout HCT 116 Cell Line | EDJ-KQ28152 | Human | 4125 | Details Get a Quote |
| MAN2B1 Knockout HeLa Cell Line | EDJ-KQ28153 | Human | 4125 | Details Get a Quote |
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