HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)

2010-08-01  

Identity

HGNC
LOCATION
5q13.3
LOCUSID
ALIAS
LDLCQ3
FUSION GENES

Other Information

Locus ID:

NCBI: 3156
MIM: 142910
HGNC: 5006
Ensembl: ENSG00000113161

Variants:

dbSNP: 3156
ClinVar: 3156
TCGA: ENSG00000113161
COSMIC: HMGCR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113161ENST00000287936P04035
ENSG00000113161ENST00000287936A0A024RAP2
ENSG00000113161ENST00000343975P04035
ENSG00000113161ENST00000442032C9JKX7
ENSG00000113161ENST00000507942D6RIW0
ENSG00000113161ENST00000509085H0Y8K6
ENSG00000113161ENST00000511206P04035
ENSG00000113161ENST00000511206A0A024RAP2
ENSG00000113161ENST00000511986H0Y8F6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Terpenoid backbone biosynthesisKEGGko00900
Terpenoid backbone biosynthesisKEGGhsa00900
Metabolic pathwaysKEGGhsa01100
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGhsa_M00095
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGM00095
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
Cholesterol biosynthesisREACTOMER-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotation, PathwayassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589, 20403997
PA33744PRKAA1GenePathwayassociated22722338
PA33745PRKAA2GenePathwayassociated22722338
PA33746PRKAB1GenePathwayassociated22722338
PA33747PRKAB2GenePathwayassociated22722338
PA33751PRKAG1GenePathwayassociated22722338
PA33752PRKAG2GenePathwayassociated22722338
PA33753PRKAG3GenePathwayassociated22722338
PA443635Cardiovascular DiseasesDiseaseClinicalAnnotationassociated
PA443756Colonic NeoplasmsDiseaseClinicalAnnotationassociatedPD20403997
PA444516HypercholesterolemiaDiseaseClinicalAnnotationassociatedPD20031582, 26408409
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589, 20031582, 26408409
PA449688fluvastatinChemicalClinicalAnnotationassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589
PA450272lovastatinChemicalClinicalAnnotationassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589
PA451089pravastatinChemicalClinicalAnnotationassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589
PA451363simvastatinChemicalClinicalAnnotationassociatedPD15199031, 16103896, 17563401, 18261733, 18332269, 18815589

References

Pubmed IDYearTitleCitations
183541022008Polymorphisms associated with cholesterol and risk of cardiovascular events.250
252623442015HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials.147
213605002011Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy.113
279597672016Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes.113
151990312004Pharmacogenetic study of statin therapy and cholesterol reduction.94
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
160540612005Insig-mediated degradation of HMG CoA reductase stimulated by lanosterol, an intermediate in the synthesis of cholesterol.84
212629142011MYC phosphorylation, activation, and tumorigenic potential in hepatocellular carcinoma are regulated by HMG-CoA reductase.68
257703152015Effect of naturally random allocation to lower low-density lipoprotein cholesterol on the risk of coronary heart disease mediated by polymorphisms in NPC1L1, HMGCR, or both: a 2 × 2 factorial Mendelian randomization study.61
185596952008Alternative splicing of 3-hydroxy-3-methylglutaryl coenzyme A reductase is associated with plasma low-density lipoprotein cholesterol response to simvastatin.59

Citation

Dessen P

HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51597/hmgcr