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 |
|---|---|---|---|
| RS746571094 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Inborn genetic diseases, Deficiency of alpha-mannosidase |
| RS747081586 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS747538432 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Inborn genetic diseases, Deficiency of alpha-mannosidase |
| RS747721968 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS750997069 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS752541064 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS753397171 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Inborn genetic diseases, Deficiency of alpha-mannosidase |
| RS758755293 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS762152042 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS762375074 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase |
| RS766383135 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Inborn genetic diseases, Deficiency of alpha-mannosidase |
| RS766810849 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS767199154 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS768233248 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS770412137 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, MAN2B1-related disorder, Deficiency of alpha-mannosidase |
| RS770791374 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS771761940 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS772853856 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS775200333 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS775212002 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS775247526 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS886054228 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS886054233 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1022927322 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516289 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516325 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516459 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516501 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516524 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516682 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516897 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057516972 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057517108 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1057517166 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1224319934 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1234850408 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1291147781 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1316039692 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1329771201 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1337215414 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS139366493 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555705992 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555706185 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555706596 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555706752 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555706774 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555707087 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555708126 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555708156 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1555709533 | Health Risk | Likely pathogenic | Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |