MAN2B1 (mannosidase alpha class 2B member 1)

2014-11-01  

Identity

HGNC
MAN2B1
LOCATION
19p13.13
LOCUSID
4125
ALIAS
LAMAN,MANB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4125
MIM: 609458
HGNC: 6826
Ensembl: ENSG00000104774

Variants:

dbSNP: 4125
ClinVar: 4125
TCGA: ENSG00000104774
COSMIC: MAN2B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104774ENST00000221363O00754
ENSG00000104774ENST00000456935O00754
ENSG00000104774ENST00000486847M0QYZ1
ENSG00000104774ENST00000593686M0R174
ENSG00000104774ENST00000596591M0QXY0
ENSG00000104774ENST00000598876M0QZG6

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Other glycan degradationKEGGko00511
Other glycan degradationKEGGhsa00511
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Lysosomal oligosaccharide catabolismREACTOMER-HSA-8853383
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
312412552019Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.4
312412552019Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.4
257418672015Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.4
260480342015Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.17
257418672015Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.4
260480342015Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.17
243531362014Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation.1
243531362014Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation.1
234496462013Traffic of human α-mannosidase in plant cells suggests the presence of a new endoplasmic reticulum-to-vacuole pathway without involving the Golgi complex.10
237399152013MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.27
234496462013Traffic of human α-mannosidase in plant cells suggests the presence of a new endoplasmic reticulum-to-vacuole pathway without involving the Golgi complex.10
237399152013MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.27
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
197222772009Human 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/gene-fusions/js/lib/zoomerang.js