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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: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 |
| 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 |
|---|---|---|---|
| 180749 | WB:WBGene00018877 | ||
| 34203 | FB:FBgn0032066 | ||
| 34204 | FB:FBgn0032067 | ||
| 34205 | FB:FBgn0032068 | ||
| 34206 | FB:FBgn0032069 | ||
| 34436 | FB:FBgn0032253 | ||
| 34437 | FB:FBgn0027611 | ||
| 541519 | ZFIN:ZDB-GENE-050327-52 | DANRE01910 | |
| 103033201 | ASTMX14521 | ||
| 108259485 | ICTPU22244 |
