MANBA Chromosome 4
Mannosidase beta
Upload your DNA to see your personal genotypes for variants in MANBA.
What This Gene Does
This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mannosidases type beta
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000109323
Associated Conditions (11)
Beta-D-mannosidosis
MANBA-related disorder
Sarcoma
Thymoma
Inborn genetic diseases
Meniere disease
Intellectual disability
Ovarian serous cystadenocarcinoma
Lung cancer
Hearing impairment
Gastric cancer
Key Variants
RS111353791
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS144917953
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, MANBA-related disorder, Beta-D-mannosidosis
Health Risk
RS145367849
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Sarcoma, Thymoma
Health Risk
RS147437033
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, MANBA-related disorder, Beta-D-mannosidosis
Health Risk
RS147542645
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Meniere disease, Beta-D-mannosidosis
Health Risk
RS149902075
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS150554352
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, MANBA-related disorder, Beta-D-mannosidosis
Health Risk
RS1730293546
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS180816849
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS200935345
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS201779762
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
RS369478532
Conflicting classifications of pathogenicity
Beta-D-mannosidosis, Beta-D-mannosidosis
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111353791 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS144917953 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, MANBA-related disorder, Beta-D-mannosidosis |
| RS145367849 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Sarcoma, Thymoma |
| RS147437033 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, MANBA-related disorder, Beta-D-mannosidosis |
| RS147542645 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Meniere disease, Beta-D-mannosidosis |
| RS149902075 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS150554352 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, MANBA-related disorder, Beta-D-mannosidosis |
| RS1730293546 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS180816849 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS200935345 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS201779762 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS369478532 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS372595221 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Inborn genetic diseases, Beta-D-mannosidosis |
| RS569997475 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Beta-D-mannosidosis, Meniere disease |
| RS752741187 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS759103361 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS767182713 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS769969734 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS774068992 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS781584789 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS927918838 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS939795867 | Health Risk | Conflicting classifications of pathogenicity | Beta-D-mannosidosis, Inborn genetic diseases, Beta-D-mannosidosis |
| RS1312379571 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1334537145 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Ovarian serous cystadenocarcinoma, Beta-D-mannosidosis |
| RS1341763493 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1411236177 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS142029636 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS145931742 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1553945794 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS200384040 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476721955 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476735985 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476807665 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476908784 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476909407 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476918631 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS2476919187 | Health Risk | Likely pathogenic | MANBA-related disorder, Beta-D-mannosidosis, MANBA-related disorder |
| RS370801398 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS374545788 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS760404534 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS767086387 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Lung cancer, Beta-D-mannosidosis |
| RS767174204 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS769079323 | Health Risk | Likely pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1035305358 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1054688954 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1160665082 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1164262919 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1188116333 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS1208178394 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |
| RS121434334 | Health Risk | Pathogenic | Beta-D-mannosidosis, Beta-D-mannosidosis |