MAN2B1 Chromosome 19
Mannosidase alpha class 2B member 1
Upload your DNA to see your personal genotypes for variants in MAN2B1.
What This Gene Does
This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Mannosidases alpha class 2
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000104774
Associated Conditions (12)
Deficiency of alpha-mannosidase
MAN2B1-related disorder
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
Inborn genetic diseases
Intellectual disability
Familial cancer of breast
Melanoma
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Craniosynostosis syndrome
Key Variants
RS112829030
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase
Health Risk
RS117843968
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase
Health Risk
RS117880912
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Thyroid cancer, nonmedullary
Health Risk
RS121434333
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
RS1369134650
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
RS1376771729
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
RS139041112
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
RS139218045
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase
Health Risk
RS139281846
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase
Health Risk
RS139435774
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
RS141212446
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase
Health Risk
RS141276889
Conflicting classifications of pathogenicity
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
Health Risk
All Variants (367)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS746868162 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS750179985 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS752987724 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS753695099 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS757072948 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS764376758 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS767768982 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS770297337 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS771647137 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS772562587 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS778131120 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS778399351 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS80338677 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Inborn genetic diseases, Ovarian serous cystadenocarcinoma |
| RS80338678 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS999923581 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1008745697 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Familial cancer of breast, Deficiency of alpha-mannosidase |
| RS1057516810 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516864 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase |
| RS1057517408 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Intellectual disability, Deficiency of alpha-mannosidase |
| RS1064793936 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1160557969 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS121434332 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1347035611 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1392422167 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1599344532 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1599349822 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1599350640 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS200048536 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023804275 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023968144 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024014272 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024027294 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024205685 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024210372 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024217737 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145262260 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145290975 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145294443 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512488438 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512503786 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512512484 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS368899357 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS369099686 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS370803545 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS387906261 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS398123457 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS561991886 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS746808159 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS748712495 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase |
| RS748872992 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |