MAN2B2
Mannosidase Alpha Class 2B Member 2
Gene Information Card
| Symbol | MAN2B2 |
|---|---|
| Full Name | Mannosidase Alpha Class 2B Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 4124 ncbi.nlm.nih.gov/gene/4124 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9Y2E5 |
| OMIM ID | 604073 |
| HGNC ID | 6827 |
| Aliases | MAN2B2, MANB, LAMAN, lysosomal alpha-mannosidase |
Description
MAN2B2 encodes lysosomal alpha-mannosidase, an enzyme that cleaves alpha-linked mannose residues from glycoproteins. It is involved in the degradation of N-linked oligosaccharides. Mutations in this gene are associated with alpha-mannosidosis, a lysosomal storage disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alpha-mannosidosis | Loss-of-function mutations in MAN2B2 lead to deficient alpha-mannosidase activity, causing accumulation of mannose-rich oligosaccharides in lysosomes. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.5 | Low |
| Lung | 5.2 | Low |
| Spleen | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Hepatocellular carcinoma cell line |
| HEK 293 | 10.4 | Embryonic kidney cells |
| K-562 | 7.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2248C>T (p.Arg750Ter) | Nonsense | <0.01% | Premature stop codon, loss of function |
| c.1552G>A (p.Gly518Arg) | Missense | <0.01% | Reduced enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish alpha-mannosidase activity cause alpha-mannosidosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mannosidase activity | • lysosome |
| • carbohydrate metabolic process | • glycoprotein catabolic process |
Pathways
• Lysosome
• N-Glycan degradation
Protein Summary
Lysosomal alpha-mannosidase (EC 3.2.1.24) is a 1011-amino-acid glycoprotein that localizes to the lysosome. It exists as a homodimer and requires zinc for activity. Deficiency leads to alpha-mannosidosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAN2B2 Knockout HEK293 Cell Line | EDJ-KQ7964 | Human | 23324 | Details Get a Quote |
| MAN2B2 Knockout HCT 116 Cell Line | EDJ-KQ32322 | Human | 23324 | Details Get a Quote |
| MAN2B2 Knockout A-549 Cell Line | EDJ-KQ33653 | Human | 23324 | Details Get a Quote |
| MAN2B2 Knockout HeLa Cell Line | EDJ-KQ33655 | Human | 23324 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
