Gene table of HMGCS2 : 3-hydroxy-3-methylglutaryl-CoA synthase 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with HMGCS2OMIM linkNumber of associated genesgenes
6059113-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE-2 DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1HMGCS2

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Annotation of the gene HMGCS2

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
Terpenoid backbone biosynthesishsa009008.31
Metabolic pathwayshsa011002.49
PPAR signaling pathwayhsa033206.56
Synthesis and degradation of ketone bodieshsa000729.6
Valine, leucine and isoleucine degradationhsa002807.09
Butanoate metabolismhsa006507.96
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
PPARA activates gene expressionR-HSA-19897816.18
Ketone body metabolismR-HSA-7418210.66
Synthesis of Ketone BodiesR-HSA-7711110.98
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)R-HSA-4002066.14
MetabolismR-HSA-14307282.34
Fatty acid, triacylglycerol, and ketone body metabolismR-HSA-5357345.44
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Associated GO terms for Molecular function
GO termGO IDGO IC
transferase activity, transferring acyl groups, acyl groups converted into alkyl on transferGO:00469128.13
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
transferase activity, transferring acyl groupsGO:00167464.2
hydroxymethylglutaryl-CoA synthase activityGO:00044219.05