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 |
|---|---|---|---|
| RS80338680 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Inborn genetic diseases, Deficiency of alpha-mannosidase |
| RS864621975 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS864621977 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Inborn genetic diseases, Deficiency of alpha-mannosidase |
| RS864621978 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS864621980 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS864621984 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS864621986 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS864621991 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS864621992 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS864621993 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS886054230 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS891030696 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516745 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516927 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057517316 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS121434331 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1218254964 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1238492400 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1322313985 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1366682636 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1406466561 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1429239930 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1445197546 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1445498020 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1447244591 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555706706 | Health Risk | Pathogenic | Inborn genetic diseases, Deficiency of alpha-mannosidase, Inborn genetic diseases |
| RS1555709972 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555710070 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1568307275 | Health Risk | Pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1599337939 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1599338484 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1735642901 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023745479 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023782686 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023854692 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2023968643 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024019978 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024020274 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024028589 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024151949 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024155693 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024192356 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024217430 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024217585 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2024251717 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145221516 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145224416 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145225250 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145225515 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS2145225759 | Health Risk | Pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |