MAN2B2 (mannosidase alpha class 2B member 2)

2014-11-01  

Identity

HGNC
MAN2B2
LOCATION
4p16.1
LOCUSID
23324
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23324
MIM: 618899
HGNC: 29623
Ensembl: ENSG00000013288

Variants:

dbSNP: 23324
ClinVar: 23324
TCGA: ENSG00000013288
COSMIC: MAN2B2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000013288ENST00000285599Q9Y2E5
ENSG00000013288ENST00000504248E9PCD7
ENSG00000013288ENST00000505907H0YA68

Expression (GTEx)

0
10
20
30
40
50
60
70
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
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Lysosomal oligosaccharide catabolismREACTOMER-HSA-8853383

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
197222772009Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties.2

Citation

Dessen P

MAN2B2 (mannosidase alpha class 2B member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68781/man2b2