MANBA (mannosidase beta)

2003-05-01  

Identity

HGNC
MANBA
LOCATION
4q24
LOCUSID
4126
ALIAS
MANB1
FUSION GENES
Show Gene Fusions

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
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
348705562022A novel genetic variant potentially altering the expression of MANBA in the cerebellum associated with attention deficit hyperactivity disorder in Han Chinese children.3
358976972022Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.2
348705562022A novel genetic variant potentially altering the expression of MANBA in the cerebellum associated with attention deficit hyperactivity disorder in Han Chinese children.3
358976972022Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.2
334414242021Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity.20
334414242021Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity.20
305283002019NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.13
305283002019NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.13
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
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
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
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
197288722009A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.13
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.9
197288722009A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.13

Citation

Dessen P

MANBA (mannosidase beta)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

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