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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 modification 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:0000294 | Low anterior hairline |
| HP:0000297 | Facial hypotonia |
| HP:0000303 | Mandibular prognathia |
| HP:0000316 | Hypertelorism |
| HP:0000337 | Broad forehead |
| HP:0000388 | Otitis media |
| HP:0000400 | Macrotia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000410 | Mixed hearing impairment |
| HP:0000457 | Depressed nasal ridge |
| 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 |
|---|---|---|---|
| 100930413 | SARHA09090 | ||
| 100395073 | CALJA23091 | ||
| 105571296 | CERAT21762 | ||
| 102137710 | MACFA17328 | ||
| 716173 | MACMU20846 | ||
| 716302 | MACMU20846 | ||
| 105467373 | MACNE12095 | ||
| 100999431 | PAPAN23426 | ||
| 105550088 | MANLE35889 | ||
| 101136007 | GORGO16297 |
