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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum membrane | ||
| glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| catalytic activity |
|
|
| protein binding |
GlycoGene Database (GGDB)
- GGDB ID
- gg214
- Gene Symbol
-
- PIGC
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050742 | nicotine dependence | |
| DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0060891 | Parkinson's disease 19A | |
| DOID:0060895 | Parkinson's disease 4 | |
| DOID:0060896 | Parkinson's disease 23 | |
| DOID:0081223 | glycosylphosphatidylinositol biosynthesis defect 16 | |
| DOID:1059 | intellectual disability | |
| DOID:10907 | microcephaly | |
| DOID:11832 | visual epilepsy |
- 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 |
|---|---|---|---|
| 177765 | WB:WBGene00011860 | ||
| 38410 | FB:FBgn0035435 | ||
| 323994 | ZFIN:ZDB-GENE-030131-2714 | DANRE18907 | |
| 103032632 | ASTMX20049 | ||
| 108257797 | ICTPU20239 | ||
| 113587364 | ELEEL39153 | ||
| 115192427 | SALTR30025 | ||
| 115555677 | GADMO06601 | ||
| 100705737 | ORENI45703 | ||
| 115590841 | SPAAU67904 |
