Gene table of PIGA : phosphatidylinositol glycan anchor biosynthesis class A

Gene-disease associations table

Disease IDDisease nameSource of annotation with PIGAOMIM linkNumber of associated genesgenes
PS614080MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 3PIGT, PIGN, PIGA
PS300818PAROXYSMAL NOCTURNAL HEMOGLOBINURIAClinVar, OMIM, HUMSAVAR link to OMIM 2PIGT, PIGA
PS308350EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEClinVar, OMIM, HUMSAVAR link to OMIM 37KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA

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Annotation of the gene PIGA

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Glycosylphosphatidylinositol(GPI)-anchor biosynthesishsa005638.07
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Post-translational modification: synthesis of GPI-anchored proteinsR-HSA-1631258.28
Synthesis of glycosylphosphatidylinositol (GPI)R-HSA-1627108.89
Metabolism of proteinsR-HSA-3924993.41
Post-translational protein modificationR-HSA-5975924.54
Associated GO terms for Molecular function
GO termGO IDGO IC
phosphatidylinositol N-acetylglucosaminyltransferase activityGO:00171768.13
protein bindingGO:00055150.46
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
bindingGO:00054880.18
transferase activity, transferring glycosyl groupsGO:00167574.08
transferase activity, transferring hexosyl groupsGO:00167584.43
acetylglucosaminyltransferase activityGO:00083755.85
UDP-glycosyltransferase activityGO:00081944.81