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 |
|---|---|---|---|
| RS1555710254 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1568300632 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1599352199 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS200036864 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023710111 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023718817 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023743942 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023783146 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023809176 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023809731 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023851530 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023852354 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023853280 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023856348 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Thyroid cancer |
| RS2023939487 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023979174 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023994157 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023994563 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023996617 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024015975 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024208039 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145232776 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145253412 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145254657 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145256406 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145288922 | Health Risk | Likely pathogenic | — |
| RS2145290970 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512484262 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512484545 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512484818 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512485224 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512486342 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512486420 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512486436 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512486479 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512486581 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512486639 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512486743 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512486844 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512487741 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512488396 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512488466 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512489604 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512489649 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512489951 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512492579 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512492585 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512492615 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512493071 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2512497496 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |