Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4125
MIM: 609458
HGNC: 6826
Ensembl: ENSG00000104774
Variants:
dbSNP: 4125
ClinVar: 4125
TCGA: ENSG00000104774
COSMIC: MAN2B1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31241255 | 2019 | Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. | 4 |
| 31241255 | 2019 | Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. | 4 |
| 25741867 | 2015 | Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus. | 4 |
| 26048034 | 2015 | Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. | 17 |
| 25741867 | 2015 | Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus. | 4 |
| 26048034 | 2015 | Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. | 17 |
| 24353136 | 2014 | Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation. | 1 |
| 24353136 | 2014 | Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation. | 1 |
| 23449646 | 2013 | Traffic of human α-mannosidase in plant cells suggests the presence of a new endoplasmic reticulum-to-vacuole pathway without involving the Golgi complex. | 10 |
| 23739915 | 2013 | MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis. | 27 |
| 23449646 | 2013 | Traffic of human α-mannosidase in plant cells suggests the presence of a new endoplasmic reticulum-to-vacuole pathway without involving the Golgi complex. | 10 |
| 23739915 | 2013 | MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis. | 27 |
| 20800603 | 2010 | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. | 14 |
| 20800603 | 2010 | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. | 14 |
| 19722277 | 2009 | Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties. | 3 |
Citation
Dessen P
MAN2B1 (mannosidase alpha class 2B member 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68780/man2b1-(mannosidase-alpha-class-2b-member-1)
