Gene table of PNPLA2 : patatin like phospholipase domain containing 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with PNPLA2OMIM linkNumber of associated genesgenes
610717NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHYClinVar, OMIM, HUMSAVAR link to OMIM 1PNPLA2

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Annotation of the gene PNPLA2

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
Glycerolipid metabolismhsa005616.91
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Acyl chain remodeling of DAG and TAGR-HSA-148288310.66
MetabolismR-HSA-14307282.34
Phospholipid metabolismR-HSA-14832575.83
Glycerophospholipid biosynthesisR-HSA-14832066.46
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
triglyceride lipase activityGO:00048066.74
lipoprotein lipase activityGO:00044657.66
hydrolase activity, acting on ester bondsGO:00167883.1
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
transferase activity, transferring acyl groupsGO:00167464.2
carboxylic ester hydrolase activityGO:00526894.81
acylglycerol O-acyltransferase activityGO:00164116.41
O-acyltransferase activityGO:00083745.85
lipase activityGO:00162984.96
transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167474.37