MANBA Gene: Mannosidase Beta
Comprehensive gene card for MANBA, encoding lysosomal beta-mannosidase, associated with beta-mannosidosis and potential roles in cancer and other disorders.
Gene Information Card
| Symbol | MANBA |
|---|---|
| Full Name | Mannosidase Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 4126 ncbi.nlm.nih.gov/gene/4126 |
| Ensembl ID | ENSG00000109323 |
| UniProt ID | O00462 |
| OMIM ID | 609489 |
| HGNC ID | 6831 |
| Aliases | MANB1, lysosomal beta-mannosidase, beta-mannosidase A |
Description
The MANBA gene encodes lysosomal beta-mannosidase, an exoglycosidase that cleaves terminal beta-linked mannose residues from glycoproteins and glycolipids. Deficiency of this enzyme causes beta-mannosidosis, a rare autosomal recessive lysosomal storage disorder characterized by intellectual disability, hearing loss, and angiokeratoma. MANBA is also implicated in cancer progression and immune modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Beta-mannosidosis | Loss-of-function mutations in MANBA lead to deficient beta-mannosidase activity, causing accumulation of mannose-containing oligosaccharides in lysosomes. | ClinVar, OMIM |
| Mannosidosis, beta, with hearing loss and intellectual disability | Same mechanism as beta-mannosidosis; specific variants (e.g., c.1553G>A) associated with severe phenotype. | ClinVar, OMIM |
| Colorectal cancer | Altered MANBA expression may affect glycoprotein turnover and tumor microenvironment; evidence from expression studies. | COSMIC, NCBI |
| Hepatocellular carcinoma | MANBA upregulation observed in some liver cancer datasets; potential role in metastasis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Small intestine | 9.8 | Medium |
| Pancreas | 7.3 | Low |
| Brain | 5.1 | Low |
| Heart | 4.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocellular carcinoma cell line |
| HEK 293 | 11.3 | Embryonic kidney cells |
| A549 | 9.7 | Lung adenocarcinoma |
| MCF7 | 6.2 | Breast cancer |
| K562 | 4.8 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1553G>A (p.Arg518His) | Missense | Rare | Reduced enzyme activity; associated with beta-mannosidosis |
| c.842C>T (p.Pro281Leu) | Missense | Rare | Loss of function; beta-mannosidosis |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein; severe beta-mannosidosis |
| c.1925_1926delAG | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MANBA mutations are loss-of-function, leading to beta-mannosidase deficiency and lysosomal storage.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • beta-mannosidase activity | • mannose metabolic process |
| • lysosome | • glycoprotein catabolic process |
| • carbohydrate binding |
Pathways
• Lysosome (KEGG: hsa04142)
• Glycosaminoglycan degradation (KEGG: hsa00531)
• Other glycan degradation (KEGG: hsa00511)
Protein Summary
Beta-mannosidase (UniProt O00462) is a 879-amino acid lysosomal glycoprotein that hydrolyzes terminal beta-D-mannose residues from N-linked glycoproteins. It is synthesized as a precursor and processed into mature forms. Deficiency leads to beta-mannosidosis. The protein is expressed in many tissues, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MANBA Knockout HEK293 Cell Line | EDJ-KQ3749 | Human | 4126 | Details Get a Quote |
| MANBAL Knockout HEK293 Cell Line | EDJ-KQ14190 | Human | 63905 | Details Get a Quote |
| MANBAL Knockout HCT 116 Cell Line | EDJ-KQ42918 | Human | 63905 | Details Get a Quote |
| MANBAL Knockout A-549 Cell Line | EDJ-KQ44133 | Human | 63905 | Details Get a Quote |
| MANBAL Knockout HeLa Cell Line | EDJ-KQ44134 | Human | 63905 | Details Get a Quote |
| MANBA Knockout HCT 116 Cell Line | EDJ-KQ24458 | Human | 4126 | Details Get a Quote |
| MANBA Knockout A-549 Cell Line | EDJ-KQ25825 | Human | 4126 | Details Get a Quote |
| MANBA Knockout HeLa Cell Line | EDJ-KQ25826 | Human | 4126 | Details Get a Quote |
