MAN2A1 (mannosidase alpha class 2A member 1)

2017-11-01  

Identity

HGNC
LOCATION
5q21.3
LOCUSID
ALIAS
AMan
FUSION GENES

Other Information

Locus ID:

NCBI: 4124
MIM: 154582
HGNC: 6824
Ensembl: ENSG00000112893

Variants:

dbSNP: 4124
ClinVar: 4124
TCGA: ENSG00000112893
COSMIC: MAN2A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112893ENST00000261483Q16706

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
N-glycan biosynthesis, complex typeKEGGhsa_M00075
N-glycan biosynthesis, complex typeKEGGM00075
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
N-glycan antennae elongation in the medial/trans-GolgiREACTOMER-HSA-975576
Reactions specific to the complex N-glycan synthesis pathwayREACTOMER-HSA-975578
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Intra-Golgi trafficREACTOMER-HSA-6811438

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
111586082001Genetic remodeling of protein glycosylation in vivo induces autoimmune disease.41
181742302008Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus.18
201892452010Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.16
205120862010Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis.11
205120862010Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis.11
282454302017MAN2A1-FER Fusion Gene Is Expressed by Human Liver and Other Tumor Types and Has Oncogenic Activity in Mice.9
174669842007Disruption of alpha-mannosidase processing induces non-canonical hybrid-type glycosylation.6
270352592016Using DFT methodology for more reliable predictive models: Design of inhibitors of Golgi α-Mannosidase II.1

Citation

Dessen P

MAN2A1 (mannosidase alpha class 2A member 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/gene/57242/man2a1