HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2)

2015-08-01  

Identity

HGNC
LOCATION
1p12
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 3158
MIM: 600234
HGNC: 5008
Ensembl: ENSG00000134240

Variants:

dbSNP: 3158
ClinVar: 3158
TCGA: ENSG00000134240
COSMIC: HMGCS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134240ENST00000369406P54868
ENSG00000134240ENST00000369406A0A140VJL2
ENSG00000134240ENST00000544913P54868

Expression (GTEx)

0
100
200
300
400
500
600
700
800

Pathways

PathwaySourceExternal ID
Synthesis and degradation of ketone bodiesKEGGko00072
Valine, leucine and isoleucine degradationKEGGko00280
Butanoate metabolismKEGGko00650
Terpenoid backbone biosynthesisKEGGko00900
PPAR signaling pathwayKEGGko03320
Synthesis and degradation of ketone bodiesKEGGhsa00072
Valine, leucine and isoleucine degradationKEGGhsa00280
Butanoate metabolismKEGGhsa00650
Terpenoid backbone biosynthesisKEGGhsa00900
PPAR signaling pathwayKEGGhsa03320
Metabolic pathwaysKEGGhsa01100
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGhsa_M00095
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGM00095
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Ketone body metabolismREACTOMER-HSA-74182
Synthesis of Ketone BodiesREACTOMER-HSA-77111
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444522HyperglycemiaDiseaseClinicalAnnotationassociatedPD29523524
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD29523524
PA448953chlorothiazideChemicalClinicalAnnotationassociatedPD29523524
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD29523524

References

Pubmed IDYearTitleCitations
386589702024Downregulation of HMGCS2 mediated AECIIs lipid metabolic alteration promotes pulmonary fibrosis by activating fibroblasts.0
387041332024BET inhibition decreases HMGCS2 and sensitizes resistant pancreatic tumors to gemcitabine.0
386589702024Downregulation of HMGCS2 mediated AECIIs lipid metabolic alteration promotes pulmonary fibrosis by activating fibroblasts.0
387041332024BET inhibition decreases HMGCS2 and sensitizes resistant pancreatic tumors to gemcitabine.0
366290482023LONP1 targets HMGCS2 to protect mitochondrial function and attenuate chronic kidney disease.6
376700312023HMGCS2 serves as a potential biomarker for inhibition of renal clear cell carcinoma growth.1
366290482023LONP1 targets HMGCS2 to protect mitochondrial function and attenuate chronic kidney disease.6
376700312023HMGCS2 serves as a potential biomarker for inhibition of renal clear cell carcinoma growth.1
354216112022Hmgcs2-mediated ketogenesis modulates high-fat diet-induced hepatosteatosis.23
354216112022Hmgcs2-mediated ketogenesis modulates high-fat diet-induced hepatosteatosis.23
342389202021Fructose drives mitochondrial metabolic reprogramming in podocytes via Hmgcs2-stimulated fatty acid degradation.10
342602942021HMGCS2 in metabolic pathways was associated with overall survival in hepatocellular carcinoma: A LASSO-derived study.6
342749452021SLC38A4 functions as a tumour suppressor in hepatocellular carcinoma through modulating Wnt/β-catenin/MYC/HMGCS2 axis.27
346245922021Epigenetic inactivation of hydroxymethylglutaryl CoA synthase reduces ketogenesis and facilitates tumor cell motility in clear cell renal carcinoma.4
349440582021PXR Suppresses PPARα-Dependent HMGCS2 Gene Transcription by Inhibiting the Interaction between PPARα and PGC1α.4

Citation

Dessen P

HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-08-01

Online version: http://atlasgeneticsoncology.org/gene/55366/hmgcs2-(3-hydroxy-3-methylglutaryl-coa-synthase-2)