mannosidase alpha class 2B member 1

Summary
Gene Symbol
  • MAN2B1
Aliases
  • LAMAN
  • lysosomal alpha-mannosidase
Organism
Homo sapiens (human)
External Links
NCBI Gene
4125
HGNC
6826
KEGG Gene ID
hsa:4125
PubChem
4125
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Glycosidase
  • Lysosome
  • Metal-binding
  • Reference proteome
  • Signal
  • Zinc
  • Zymogen
Proteins
Displaying all 2 entries
UniProt Protein Name
A8K6A7
O00754
  • Lysosomal acid alpha-mannosidase
  • Mannosidase alpha class 2B member 1
  • Mannosidase alpha-B
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000104774

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K12311
Name
lysosomal alpha-mannosidase [EC:3.2.1.24]
References
Reactions
Displaying all 2 entries
KEGG Reaction Enzyme Acceptor Product
R08718
R08717
Disease
Disease Ontology
Displaying entries 1 - 10 of 34 in total
DO ID Disease Name Source
DOID:0050461 aspartylglucosaminuria
DOID:0060320 inguinal hernia
DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
DOID:0111390 mucopolysaccharidosis Ih
DOID:10003 sensorineural hearing loss
DOID:10426 Klippel-Feil syndrome
DOID:1059 intellectual disability
DOID:10871 age related macular degeneration
DOID:11771 spontaneous ocular nystagmus
DOID:12798 mucopolysaccharidosis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 126 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000010 Recurrent urinary tract infections
HP:0000023 Inguinal hernia
HP:0000158 Macroglossia
HP:0000212 Gingival overgrowth
HP:0000248 Brachycephaly
HP:0000256 Macrocephaly
HP:0000272 Malar flattening
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
Displaying all 3 entries
Disease ID Disease Name
OMIM:248500
  • alpha-mannosidosis
ORPHA:309288
  • alpha-mannosidosis, adult form
ORPHA:309282
  • alpha-mannosidosis, infantile form

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024