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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:0000007 | Autosomal recessive inheritance |
| HP:0000158 | Macroglossia |
| HP:0000218 | High palate |
| HP:0000256 | Macrocephaly |
| HP:0000316 | Hypertelorism |
| HP:0000324 | Facial asymmetry |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000365 | Hearing impairment |
| HP:0000480 | Retinal coloboma |
| Disease ID | Disease Name |
|---|---|
| OMIM:619775 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 102190996 | CAPHI13702 | ||
| 101118225 | SHEEP07847 | ||
| 105982362 | DIPOR06491 | ||
| 100761822 | CRIGR04023 | ||
| 73744 | MGI:1920994 | MOUSE61708 | |
| 246136 | RGD:628787 | RATNO42199 | |
| 101586075 | OCTDE07295 | ||
| 101717669 | HETGA16613 | ||
| 100030390 | MONDO06887 | ||
| 102457634 | PELSI12785 |
