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MIRAGE
phosphatidylinositol glycan anchor biosynthesis class C
Summary
- Gene Symbol
-
- PIGC
- Aliases
-
- GPI2
- PIG-C
- phosphatidylinositol N-acetylglucosaminyltransferase subunit C
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Disease variant
- Endoplasmic reticulum
- GPI-anchor biosynthesis
- Intellectual disability
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q92535 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| catalytic activity | ||
| protein binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- phosphatidylinositol
- Functional Category
-
- P: Inorganic ion transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| InterPro |
|---|
| Phosphatidylinositol N-acetylglucosaminyltransferase subunit C |
GlycoGene Database (GGDB)
- GGDB ID
- gg214
- Gene Symbol
-
- PIGC
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0081223 | glycosylphosphatidylinositol biosynthesis defect 16 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0002465 | Poor speech |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003593 | Infantile onset |
| Disease ID | Disease Name |
|---|---|
| OMIM:617816 |
|
PubChem Disease
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000545
- Gene Name
- phosphatidylinositol glycan anchor biosynthesis, class C
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 5279 | Xenbase:XB-GENE-951705 | ||
| 67292 | MOUSE28787 | ||
| 323994 | DANRE18907 | ||
| 364032 | RATNO07530 | ||
| 469583 | PANTR23032 | ||
| 480073 | CANLF17249 | ||
| 510483 | BOVIN08243 | ||
| 705657 | MACMU24892 | ||
| 856029 | Xenbase:XB-GENE-951705 | ||
| 100060224 | HORSE34383 |
