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mannosidase alpha class 2B member 1
Summary
- Gene Symbol
-
- MAN2B1
- Aliases
-
- LAMAN
- lysosomal alpha-mannosidase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Glycoprotein
- Glycosidase
- Lysosome
- Metal-binding
- Reference proteome
- Signal
- Zinc
- Zymogen
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein deglycosylation | ||
| N-glycan processing |
|
|
| oligosaccharide catabolic process | ||
| learning or memory | ||
| mannose metabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| intracellular membrane-bounded organelle | ||
| extracellular region | ||
| extracellular space | ||
| lysosomal lumen | ||
| extracellular exosome |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| alpha-mannosidase activity | ||
| metal ion binding | ||
| carbohydrate binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
G31265VL
G24464VD
G88469YE
G47023PF
Disease
- Disease Ontology
| 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
| HPO ID | HPO Term |
|---|---|
| HP:0001653 | Mitral regurgitation |
| HP:0001659 | Aortic regurgitation |
| HP:0001744 | Splenomegaly |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0001876 | Pancytopenia |
| HP:0001922 | Vacuolated lymphocytes |
| HP:0002007 | Frontal bossing |
| HP:0002066 | Gait ataxia |
| HP:0002070 | Limb ataxia |
| HP:0002090 | Pneumonia |
| Disease ID | Disease Name |
|---|---|
| OMIM:248500 |
|
| ORPHA:309288 |
|
| ORPHA:309282 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 113589666 | ELEEL43501 | ||
| 115191200 | SALTR49093 | ||
| 115540983 | GADMO43752 | ||
| 100710610 | ORENI61256 | ||
| 115590374 | SPAAU54206 | ||
| 108711713 | Xenbase:XB-GENE-6485869 | ||
| 779924 | Xenbase:XB-GENE-958698 | ||
| 101942520 | CHRPI21854 | ||
| 113433620 | PSETE04096 | ||
| 103170598 | ORNAN29744 |
