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
237399152013MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.17
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
234496462013Traffic of human α-mannosidase in plant cells suggests the presence of a new endoplasmic reticulum-to-vacuole pathway without involving the Golgi complex.8
260480342015Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.5
157122692005Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.3
197222772009Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties.2
243531362014Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation.1
257418672015Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.1

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