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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mannosidase beta
Summary
- Gene Symbol
-
- MANBA
- Aliases
-
- beta-mannosidase A
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Disulfide bond
- Glycoprotein
- Glycosidase
- Lysosome
- Reference proteome
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| O00462 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| oligosaccharide catabolic process | ||
| protein modification process | ||
| glycoprotein catabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| azurophil granule membrane | ||
| plasma membrane | ||
| lysosomal lumen |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| mannose binding | ||
| beta-mannosidase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050635 | alternating hemiplegia of childhood | |
| DOID:0060357 | chylomicron retention disease | |
| DOID:0060643 | primary sclerosing cholangitis | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:10003 | sensorineural hearing loss | |
| DOID:1059 | intellectual disability | |
| DOID:1094 | attention deficit hyperactivity disorder | |
| DOID:11335 | sarcoidosis | |
| DOID:11504 | autonomic neuropathy | |
| DOID:11771 | spontaneous ocular nystagmus |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000365 | Hearing impairment |
| HP:0000503 | Tortuosity of conjunctival vessels |
| HP:0000718 | Aggressive behavior |
| HP:0000752 | Hyperactivity |
| HP:0001014 | Angiokeratoma |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001290 | Generalized hypotonia |
| Disease ID | Disease Name |
|---|---|
| OMIM:248510 |
|
| ORPHA:118 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 181517 | WB:WBGene00007904 | ||
| 40524 | FB:FBgn0037215 | ||
| 103177724 | CALMI13433 | ||
| 393128 | ZFIN:ZDB-GENE-040426-721 | ||
| 103036309 | ASTMX18110 | ||
| 108263548 | ICTPU27142 | ||
| 113585864 | ELEEL36121 | ||
| 106607245 | SALSA06848 | ||
| 115544447 | GADMO49298 | ||
| 101166673 | ORYLA10778 |
