MANBA (mannosidase beta)

2003-05-01  

Identity

HGNC
LOCATION
4q24
LOCUSID
ALIAS
MANB1
FUSION GENES

Other Information

Locus ID:

NCBI: 4126
MIM: 609489
HGNC: 6831
Ensembl: ENSG00000109323

Variants:

dbSNP: 4126
ClinVar: 4126
TCGA: ENSG00000109323
COSMIC: MANBA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109323ENST00000505239E9PFW2
ENSG00000109323ENST00000511813D6RA01
ENSG00000109323ENST00000642252A0A2R8YEC9
ENSG00000109323ENST00000644159A0A2R8Y524
ENSG00000109323ENST00000644545A0A2R8Y4U7
ENSG00000109323ENST00000644965A0A2R8YG98
ENSG00000109323ENST00000645348A0A2R8YE79
ENSG00000109323ENST00000645558A0A2R8Y7N1
ENSG00000109323ENST00000646311A0A2R8Y211
ENSG00000109323ENST00000646451A0A2R8Y7A0
ENSG00000109323ENST00000646727A0A2R8YCE9
ENSG00000109323ENST00000647097O00462
ENSG00000109323ENST00000647129A0A2R8Y7A7

Expression (GTEx)

0
5
10
15
20
25
30
35
40

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

References

Pubmed IDYearTitleCitations
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
197288722009A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.8
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6
178994542008MANBA polymorphism was related to increased risk of colorectal cancer in Swedish but not in Chinese populations.0
178994542008MANBA polymorphism was related to increased risk of colorectal cancer in Swedish but not in Chinese populations.0
305283002019NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.0

Citation

Dessen P

MANBA (mannosidase beta)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41267/manba