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Aliases for HMGCR Gene

Aliases for HMGCR Gene

  • 3-Hydroxy-3-Methylglutaryl-CoA Reductase 2 3 5
  • 3-Hydroxy-3-Methylglutaryl CoA Reductase (NADPH) 2 3
  • 3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase 2 3
  • Hydroxymethylglutaryl-CoA Reductase 2 3
  • HMG-CoA Reductase 3 4
  • EC 1.1.1.34 4 56
  • EC 1.1.1 56
  • LDLCQ3 3

External Ids for HMGCR Gene

Previous GeneCards Identifiers for HMGCR Gene

  • GC05P073440
  • GC05P074869
  • GC05P074671
  • GC05P074717
  • GC05P074668
  • GC05P069838
  • GC05P074635

Summaries for HMGCR Gene

Entrez Gene Summary for HMGCR Gene

  • HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for HMGCR Gene

HMGCR (3-Hydroxy-3-Methylglutaryl-CoA Reductase) is a Protein Coding gene. Diseases associated with HMGCR include Hyperlipidemia, Familial Combined and Marek Disease. Among its related pathways are Metformin Pathway, Pharmacodynamics and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and NADP binding. An important paralog of this gene is SCAP.

UniProtKB/Swiss-Prot for HMGCR Gene

  • Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins.

Tocris Summary for HMGCR Gene

  • 3-hydroxy-3-methyl-glutaryl-CoA reductase (HMG-CoA reductase) catalyzes the rate limiting step in cholesterol biosynthesis - conversion of 3-hydroxy-3-methyl-glutaryl-CoA to mevalonic acid. HMG-CoA reductase is a transmembrane enzyme, bound to endoplasmic reticulum.

Gene Wiki entry for HMGCR Gene

PharmGKB "VIP" Summary for HMGCR Gene

Additional gene information for HMGCR Gene

No data available for CIViC summary , fRNAdb sequence ontologies and piRNA Summary for HMGCR Gene

Genomics for HMGCR Gene

GeneHancer (GH) Regulatory Elements for HMGCR Gene

Promoters and enhancers for HMGCR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I075335 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +2.6 2611 7.8 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 HMGCR POC5 RAP1BL RPS26P26 ANKDD1B GCNT4 POLK ENSG00000247372 GC05P075337 ENSG00000271815
GH05I075331 Enhancer 0.7 ENCODE 0.8 -4.6 -4618 0.2 DRAP1 ELF3 SOX13 CTCF FOXA2 SAP130 ARID4B THRB RARA TEAD3 HMGCR ENSG00000247372 GC05M075287
GH05I075318 Enhancer 1.3 FANTOM5 Ensembl ENCODE 0.4 -15.6 -15550 3.7 HDAC1 PKNOX1 SIN3A RCOR1 FOS ATF7 KLF13 SMARCC1 PHF21A CEBPB GCNT4 ENSG00000272040 POC5 COL4A3BP ENSG00000247372 HMGCR GC05M075287
GH05I075358 Enhancer 0.4 ENCODE 0.3 +22.7 22741 0.8 POLR2A ZNF585B ENSG00000272040 POC5 ENSG00000271815 GC05P075337 HMGCR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HMGCR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HMGCR gene promoter:

Genomic Locations for HMGCR Gene

Genomic Locations for HMGCR Gene
chr5:75,336,329-75,362,104
(GRCh38/hg38)
Size:
25,776 bases
Orientation:
Plus strand
chr5:74,632,154-74,657,929
(GRCh37/hg19)

Genomic View for HMGCR Gene

Genes around HMGCR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMGCR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMGCR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMGCR Gene

Proteins for HMGCR Gene

  • Protein details for HMGCR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04035-HMDH_HUMAN
    Recommended name:
    3-hydroxy-3-methylglutaryl-coenzyme A reductase
    Protein Accession:
    P04035
    Secondary Accessions:
    • B7Z3Y9
    • Q8N190

    Protein attributes for HMGCR Gene

    Size:
    888 amino acids
    Molecular mass:
    97476 Da
    Quaternary structure:
    • Homodimer. Interacts (via its SSD) with INSIG1; the interaction, accelerated by sterols, leads to the recruitment of HMGCR to AMFR/gp78 for its ubiquitination by the sterol-mediated ERAD pathway. Interacts with UBIAD1.
    SequenceCaution:
    • Sequence=BAH12375.1; Type=Frameshift; Positions=122; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HMGCR Gene

    Alternative splice isoforms for HMGCR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMGCR Gene

Selected DME Specific Peptides for HMGCR Gene

P04035:
  • RKVEVIKPLV
  • PMATTEG
  • SHPWEVIV
  • GRGKSVV
  • LPYRDYNY
  • CPKFEEDVLSSDIIILTITRCIAILYIYFQFQNLRQL
  • VIGYMPIPVG
  • PGENARQLA
  • AQNVGSSNC
  • ALAAGHLV
  • GSAMAGS
  • LWQFYLS
  • NAHAANI
  • GSKYILGIAGLFTIFSSF
  • KVSLGLDE
  • ELTGLNEALPFFLLLIDL
  • HNRSKINLQDL
  • NWIEGRGK
  • PQQACLQMLGVQGA
  • EPRPNEECLQIL
  • NIARGMAILGPT
  • GTVGGGT
  • SGNYCTDKK
  • EDVLSSD
  • AGRNLYIR
  • ELSLMAAL
  • FDSTSRF
  • SSNCITLM
  • GACCENVIGYMP
  • AKHIPAYKLE
  • ANIVTAI
  • SRFARLQ
  • NRGCRAI
  • LVASTNRG
  • STSRFARL
  • DAMGMNM
  • DGMTRGP
  • QRVKMIM
  • PVGVAGP
  • GQDAAQN

Post-translational modifications for HMGCR Gene

  • N-glycosylated. Deglycosylated by NGLY1 on release from the endoplasmic reticulum (ER) in a sterol-mediated manner.
  • Undergoes sterol-mediated ubiquitination and ER-association degradation (ERAD). Accumulation of sterols in the endoplasmic reticulum (ER) membrane, triggers binding of the reductase to the ER membrane protein INSIG1. This INSIG1 binding leads to the recruitment of the ubiquitin ligase, AMFR/gp78, initiating ubiquitination of the reductase. The ubiquitinated reductase is then extracted from the ER membrane and delivered to cytosolic 26S proteosomes by a mechanism probably mediated by the ATPase Valosin-containing protein VCP/p97. Lys-248 is the main site of ubiquitination. Ubiquitination is enhanced by the presence of a geranylgeranylated protein.
  • Ubiquitination at isoforms=2, 389, isoforms=2, 3248, isoforms=2, 3288, isoforms=2, 3299, isoforms=2, 3381, isoforms=2, 3401, isoforms=2, 3460, isoforms=2, 3474, isoforms=2, 3480, posLast=619619, isoforms=2, 3633, isoforms=2, 3662, posLast=704704, posLast=715715, isoforms=2, 3864, and posLast=873873
  • Glycosylation at isoforms=2, 3281, posLast=296296, posLast=419419, isoforms=2, 3518, and isoforms=2, 3870

Domains & Families for HMGCR Gene

Gene Families for HMGCR Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for HMGCR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04035

UniProtKB/Swiss-Prot:

HMDH_HUMAN :
  • Belongs to the HMG-CoA reductase family.
Family:
  • Belongs to the HMG-CoA reductase family.
genes like me logo Genes that share domains with HMGCR: view

Function for HMGCR Gene

Molecular function for HMGCR Gene

GENATLAS Biochemistry:
3-hydroxy-3-methylglutaryl-CoA reductase,catalyzing a rate-limiting step in cholesterol biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
(R)-mevalonate + CoA + 2 NADP(+) = (S)-3-hydroxy-3-methylglutaryl-CoA + 2 NADPH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by a negative feedback mechanism through sterols and non-sterol metabolites derived from mevalonate. Inhibited by statins, a class of hypolipidemic agents used as pharmaceuticals to lower cholesterol levels in individuals at risk from cardiovascular disease due to hypercholesterolemia. Inhibition of HMGCR in the liver stimulates the LDL-receptors, which results in an increased clearance of LDL from the bloodstream and a decrease in blood cholesterol levels. The first results can be seen after one week of statin use and the effect is maximal after four to six weeks.
UniProtKB/Swiss-Prot Function:
Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in the biosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone and geranylgeranyl proteins.

Enzyme Numbers (IUBMB) for HMGCR Gene

Phenotypes From GWAS Catalog for HMGCR Gene

Gene Ontology (GO) - Molecular Function for HMGCR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004420 hydroxymethylglutaryl-CoA reductase (NADPH) activity IBA --
GO:0005515 protein binding IPI 23169578
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
GO:0042282 hydroxymethylglutaryl-CoA reductase activity IDA 2991281
genes like me logo Genes that share ontologies with HMGCR: view
genes like me logo Genes that share phenotypes with HMGCR: view

Animal Models for HMGCR Gene

MGI Knock Outs for HMGCR:

Clone Products

  • Addgene plasmids for HMGCR

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HMGCR Gene

Localization for HMGCR Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMGCR Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HMGCR gene
Compartment Confidence
peroxisome 5
endoplasmic reticulum 5
plasma membrane 4
extracellular 3
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for HMGCR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005778 peroxisomal membrane IDA 17180682
GO:0005783 endoplasmic reticulum IDA,IEA 17180682
GO:0005789 endoplasmic reticulum membrane TAS 2991281
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HMGCR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HMGCR Gene

Pathways & Interactions for HMGCR Gene

genes like me logo Genes that share pathways with HMGCR: view

UniProtKB/Swiss-Prot P04035-HMDH_HUMAN

  • Pathway: Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 3/3.

Gene Ontology (GO) - Biological Process for HMGCR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS,IDA --
GO:0006743 ubiquinone metabolic process IEA --
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with HMGCR: view

No data available for SIGNOR curated interactions for HMGCR Gene

Drugs & Compounds for HMGCR Gene

(130) Drugs for HMGCR Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lovastatin Approved, Investigational Pharma Competitive, Inhibitor, Target, inhibitor HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 68
Pravastatin Approved Pharma Competitive, Inhibitor, Target, inhibitor 154
Simvastatin Approved Pharma Competitive, Inhibitor, Target, inhibitor HMG-CoA reductase inhibitor 537
Fluvastatin Approved Pharma Competitive, Inhibitor, Target, inhibitor HMGCR inhibitor 62
atorvastatin Approved Pharma Competitive, Inhibitor, Target, inhibitor 0

(56) Additional Compounds for HMGCR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-hydroxy-3-methylglutaryl-coa
  • (S)-3-hydroxy-3-methylglutaryl-CoA
  • (S)-3-hydroxy-3-methylglutaryl-Coenzyme A
  • 3-Hydroxy-3-methyl-Glutaryl-CoA
  • 3-Hydroxy-3-methyl-Glutaryl-Coenzyme A
  • 3-Hydroxy-3-methylglutaryl-CoA
1553-55-5
(R)-mevalonate
6-Hydroxyfluvastatin
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8

(5) Tocris Compounds for HMGCR Gene

Compound Action Cas Number
Fluvastatin sodium Potent HMG-CoA reductase inhibitor 93957-55-2
Lovastatin Potent HMG-CoA reductase inhibitor 75330-75-5
Mevastatin HMG-CoA reductase inhibitor 73573-88-3
Pravastatin sodium salt HMG-CoA reductase inhibitor 81131-70-6
Simvastatin HMG-CoA reductase inhibitor 79902-63-9

(14) ApexBio Compounds for HMGCR Gene

Compound Action Cas Number
Atorvastatin Calcium HMG-CoA reductase inhibitor 134523-03-8
Clinofibrate HMGCR inhibitor 30299-08-2
Fluvastatin HMGCR inhibitor 93957-54-1
Fluvastatin (Lescol) 93957-55-2
Fluvastatin Sodium HMG-CoA reductase inhibitor 93957-55-2
Lovastatin HMG-CoA reductase inhibitor 75330-75-5
Mevastatin HMG-CoA reductase inhibitor 73573-88-3
Pitavastatin HMG-CoA reductase inhibitor 147511-69-1
Pitavastatin Calcium Enzyme HMGCR inhibitor 147526-32-7
Pravastatin 81093-37-0
Pravastatin sodium HMG-CoA reductase inhibitor,highly selective and competitive 81131-70-6
Rosuvastatin 287714-41-4
Rosuvastatin Calcium 147098-20-2
Simvastatin (Zocor) HMGCR (HMG-CoA reductase) inhibitor 79902-63-9
genes like me logo Genes that share compounds with HMGCR: view

Drug Products

Transcripts for HMGCR Gene

Unigene Clusters for HMGCR Gene

3-hydroxy-3-methylglutaryl-CoA reductase:
Representative Sequences:

Clone Products

  • Addgene plasmids for HMGCR

Alternative Splicing Database (ASD) splice patterns (SP) for HMGCR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b
SP1: - - - -
SP2: - - -
SP3:
SP4:
SP5:

Relevant External Links for HMGCR Gene

GeneLoc Exon Structure for
HMGCR
ECgene alternative splicing isoforms for
HMGCR

Expression for HMGCR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HMGCR Gene

Protein differential expression in normal tissues from HIPED for HMGCR Gene

This gene is overexpressed in Fetal testis (62.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HMGCR Gene



NURSA nuclear receptor signaling pathways regulating expression of HMGCR Gene:

HMGCR

SOURCE GeneReport for Unigene cluster for HMGCR Gene:

Hs.628096

Evidence on tissue expression from TISSUES for HMGCR Gene

  • Nervous system(5)
  • Liver(4.7)
  • Blood(4.5)
  • Intestine(2.7)
  • Muscle(2.5)
  • Adrenal gland(2.3)
  • Gall bladder(2.3)
  • Heart(2.3)
  • Kidney(2.3)
  • Lung(2.1)
  • Skin(2.1)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with HMGCR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HMGCR Gene

Orthologs for HMGCR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HMGCR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMGCR 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia HMGCR 33 34
  • 92.23 (n)
oppossum
(Monodelphis domestica)
Mammalia HMGCR 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HMGCR 33 34
  • 90.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HMGCR 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmgcr 33 16 34
  • 86.55 (n)
rat
(Rattus norvegicus)
Mammalia Hmgcr 33
  • 86.13 (n)
chicken
(Gallus gallus)
Aves HMGCR 33 34
  • 79.09 (n)
lizard
(Anolis carolinensis)
Reptilia HMGCR 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmgcr 33
  • 74.99 (n)
Str.16151 33
African clawed frog
(Xenopus laevis)
Amphibia LOC397750 33
zebrafish
(Danio rerio)
Actinopterygii hmgcrb 34
  • 71 (a)
OneToMany
hmgcra 33 34
  • 70.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hmgcr 35 33 34
  • 53.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002288 33
  • 51.83 (n)
worm
(Caenorhabditis elegans)
Secernentea hmgr-1 33 34
  • 54 (n)
F08F8.2 35
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HMG2 33 34
  • 57.36 (n)
HMG1 34 36
  • 32 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B04642g 33
  • 48.99 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER152W 33
  • 46.31 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons HMG1 33
  • 59.33 (n)
soybean
(Glycine max)
eudicotyledons Gma.4589 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10817 33
rice
(Oryza sativa)
Liliopsida Os08g0512700 33
  • 57.4 (n)
Os.164 33
barley
(Hordeum vulgare)
Liliopsida Hv.5593 33
wheat
(Triticum aestivum)
Liliopsida Ta.1571 33
corn
(Zea mays)
Liliopsida Zm.2360 33
bread mold
(Neurospora crassa)
Ascomycetes NCU00712 33
  • 58.15 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hmg1 33
  • 54.91 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2237 33
Species where no ortholog for HMGCR was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for HMGCR Gene

ENSEMBL:
Gene Tree for HMGCR (if available)
TreeFam:
Gene Tree for HMGCR (if available)

Paralogs for HMGCR Gene

Paralogs for HMGCR Gene

genes like me logo Genes that share paralogs with HMGCR: view

Variants for HMGCR Gene

Sequence variations from dbSNP and Humsavar for HMGCR Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs12654264 association, Low density lipoprotein cholesterol level quantitative trait locus 3 75,352,778(+) A/T intron_variant
rs17244841 drug-response, pravastatin response - Efficacy, simvastatin response - Efficacy, HMG CoA reductase inhibitors response - Efficacy 75,347,030(+) A/T intron_variant
rs1000456225 -- 75,337,833(+) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000506987 -- 75,337,603(+) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000811570 -- 75,352,989(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HMGCR Gene

Variant ID Type Subtype PubMed ID
esv3575856 CNV gain 25503493
esv3304309 CNV mobile element insertion 20981092

Variation tolerance for HMGCR Gene

Residual Variation Intolerance Score: 6.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 26.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HMGCR Gene

Human Gene Mutation Database (HGMD)
HMGCR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMGCR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMGCR Gene

Disorders for HMGCR Gene

MalaCards: The human disease database

(34) MalaCards diseases for HMGCR Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperlipidemia, familial combined
  • fchl
marek disease
  • fowl paralyses
cerebrotendinous xanthomatosis
  • ctx
mevalonic aciduria
  • meva
familial hyperlipidemia
  • familial hyperlipoproteinemia
- elite association - COSMIC cancer census association via MalaCards
Search HMGCR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HMGCR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HMGCR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HMGCR Gene

Publications for HMGCR Gene

  1. Variants in the HMG-CoA reductase (HMGCR) gene influence component phenotypes in polycystic ovary syndrome. (PMID: 19327767) Xu N … Goodarzi MO (Fertility and sterility 2010) 3 22 44 58
  2. Gene-gene and gene - clinical factors interaction in acute myocardial infarction: a new detailed risk chart. (PMID: 20388088) Licastro F … Ferrari R (Current pharmaceutical design 2010) 3 22 44 58
  3. (TTA)n polymorphism in 3-hydroxy-3-methylglutaryl-coenzyme A and response to atorvastatin in coronary artery disease patients. (PMID: 19067673) Noriega V … Prieto JC (Basic & clinical pharmacology & toxicology 2009) 3 22 44 58
  4. Interaction between HMGCR and ABCA1 cholesterol-related genes modulates Alzheimer's disease risk. (PMID: 19446537) Rodríguez-Rodríguez E … Combarros O (Brain research 2009) 3 22 44 58
  5. Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. (PMID: 18802019) Burkhardt R … Breslow JL (Arteriosclerosis, thrombosis, and vascular biology 2008) 3 22 44 58

Products for HMGCR Gene

  • Addgene plasmids for HMGCR

Sources for HMGCR Gene

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