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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
215023242011Human HMGCS2 regulates mitochondrial fatty acid oxidation and FGF21 expression in HepG2 cell line.39
186361242008Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.32
205495152010Genome-wide searching of rare genetic variants in WTCCC data.29
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
169401612006Ketogenic HMGCS2 Is a c-Myc target gene expressed in differentiated cells of human colonic epithelium and down-regulated in colon cancer.22
239437932014Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
173875282007Association study of cholesterol-related genes in Alzheimer's disease.16
259298102015The prognostic impact of lipid biosynthesis-associated markers, HSD17B2 and HMGCS2, in rectal cancer treated with neoadjuvant concurrent chemoradiotherapy.16

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