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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mannosidase alpha class 2C member 1
Summary
- Gene Symbol
-
- MAN2C1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cobalt
- Cytoplasm
- Glycosidase
- Metal-binding
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9NTJ4 |
|
| A0A140VJN9 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| oligosaccharide catabolic process | ||
| mannose metabolic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol | ||
| nucleoplasm |
| GO Term | Evidence Code | PMID |
|---|---|---|
| alpha-mannosidase activity | ||
| metal ion binding | ||
| carbohydrate binding |
GO Hierarchy
Disease
- Disease Ontology
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000750 | Delayed speech and language development |
| HP:0000960 | Sacral dimple |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0001852 | Sandal gap |
| HP:0002000 | Short columella |
| Disease ID | Disease Name |
|---|---|
| OMIM:619775 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100703594 | ORENI68034 | ||
| 102295777 | HAPBU13806 | ||
| 113026748 | ASTCA38274 | ||
| 115586733 | SPAAU43484 | ||
| 431951 | Xenbase:XB-GENE-992253 | ||
| 100036651 | Xenbase:XB-GENE-992248 | ||
| 109308875 | CROPO15719 | ||
| 100547587 | MELGA03004 | ||
| 100934233 | SARHA11251 | ||
| 100404562 | CALJA00500 |
