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 ... See more...

Aliases for HMGCR Gene

Aliases for HMGCR Gene

  • 3-Hydroxy-3-Methylglutaryl-CoA Reductase 2 3 5
  • 3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase 2 3 4
  • 3-Hydroxy-3-Methylglutaryl CoA Reductase (NADPH) 2 3
  • Hydroxymethylglutaryl-CoA Reductase 2 3
  • HMG-CoA Reductase 3 4
  • EC 1.1.1.34 4 51
  • EC 1.1.1 51
  • LDLCQ3 3
  • HMGCR 5

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 Familial Hypercholesterolemia and Familial Hyperlipidemia. Among its related pathways are Sterol Regulatory Element-Binding Proteins (SREBP) signalling and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and NADP binding.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Rfam classification and piRNA Summary for HMGCR Gene

Genomics for HMGCR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HMGCR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HMGCR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HMGCR

Top Transcription factor binding sites by QIAGEN in the HMGCR gene promoter:
  • c-Myb
  • CBF(2)
  • CBF-A
  • CP1C
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for HMGCR Gene

Genomic Locations for HMGCR Gene
chr5:75,336,329-75,362,116
(GRCh38/hg38)
Size:
25,788 bases
Orientation:
Plus strand
chr5:74,632,154-74,657,929
(GRCh37/hg19)
Size:
25,776 bases
Orientation:
Plus strand

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; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: Most highly expressed transcript in skin, esophagus, and uterine cervix.

    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-associated 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 or RNF145, 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.
  • Glycosylation at Asn281, Asn296, Asn419, Asn518, and Asn870
  • Ubiquitination at Lys89, Lys248, Lys288, Lys299, Lys381, Lys396, Lys401, Lys460, Lys474, Lys480, Lys502, Lys619, Lys633, Lys662, Lys704, Lys715, Lys864, and Lys873
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • HMDH_HUMAN (983)

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:
  • 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMDH_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-mevalonate + CoA + 2 NADP(+) = (3S)-hydroxy-3-methylglutaryl-CoA + 2 H(+) + 2 NADPH; Xref=Rhea:RHEA:15989, ChEBI:CHEBI:15378, ChEBI:CHEBI:36464, ChEBI:CHEBI:43074, ChEBI:CHEBI:57287, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.34; Evidence={ECO:0000255|PROSITE-ProRule:PRU10003};.
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.
GENATLAS Biochemistry:
3-hydroxy-3-methylglutaryl-CoA reductase,catalyzing a rate-limiting step in cholesterol biosynthesis

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 IEA,IBA 21873635
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for HMGCR

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 3
nucleus 3
cytosol 3
cytoskeleton 2
endosome 2
lysosome 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for HMGCR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005778 peroxisomal membrane IBA,IDA 17180682
GO:0005783 endoplasmic reticulum IEA,IDA 17180682
GO:0005789 endoplasmic reticulum membrane IBA,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.

SIGNOR curated interactions for HMGCR Gene

Is inactivated by:

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 IDA,TAS --
GO:0006743 ubiquinone metabolic process IEA --
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with HMGCR: view

Drugs & Compounds for HMGCR Gene

(136) 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 Inhibitor, Competitive, Agonist, Full agonist, Target, inhibitor HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 82
Pravastatin Approved Pharma Inhibitor, Competitive, Target, inhibitor 167
Simvastatin Approved Pharma Inhibitor, Competitive, Target, inhibitor HMG-CoA reductase inhibitor 582
Fluvastatin Approved Pharma Inhibitor, Competitive, Target, inhibitor HMGCR inhibitor 0
Atorvastatin Approved Pharma Inhibitor, Competitive, Target, inhibitor 893

(52) Additional Compounds for HMGCR Gene - From: Novoseek, HMDB, and Tocris

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-coenzyme A
1553-55-5
6-Hydroxyfluvastatin
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
Pravastatin sodium salt
81131-70-6

(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

(13) 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 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

mRNA/cDNA for HMGCR Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for HMGCR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for HMGCR Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Intestine(3.2)
  • Skin(3.1)
  • Muscle(3)
  • Heart(2.9)
  • Kidney(2.9)
  • Adrenal gland(2.8)
  • Gall bladder(2.7)
  • Stomach(2.7)
  • Pancreas(2.6)
  • Thyroid gland(2.6)
  • Lung(2.6)
  • Spleen(2.4)
  • Bone marrow(2.3)
  • Lymph node(2.3)
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 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HMGCR 30 31
  • 92.23 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HMGCR 31
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia HMGCR 30 31
  • 90.92 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HMGCR 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Hmgcr 30 17 31
  • 86.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hmgcr 30
  • 86.13 (n)
Chicken
(Gallus gallus)
Aves HMGCR 30 31
  • 79.09 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HMGCR 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hmgcr 30
  • 74.99 (n)
Str.16151 30
African clawed frog
(Xenopus laevis)
Amphibia LOC397750 30
Zebrafish
(Danio rerio)
Actinopterygii hmgcrb 31
  • 71 (a)
OneToMany
hmgcra 30 31
  • 70.29 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Hmgcr 30 31 32
  • 53.44 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002288 30
  • 51.83 (n)
Worm
(Caenorhabditis elegans)
Secernentea hmgr-1 30 31
  • 54 (n)
OneToOne
F08F8.2 32
  • 46 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HMG2 30 31
  • 57.36 (n)
OneToMany
HMG1 31 33
  • 32 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B04642g 30
  • 48.99 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER152W 30
  • 46.31 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons HMG1 30
  • 59.33 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10817 30
Soybean
(Glycine max)
eudicotyledons Gma.4589 30
Rice
(Oryza sativa)
Liliopsida Os08g0512700 30
  • 57.4 (n)
Os.164 30
Barley
(Hordeum vulgare)
Liliopsida Hv.5593 30
Wheat
(Triticum aestivum)
Liliopsida Ta.1571 30
Corn
(Zea mays)
Liliopsida Zm.2360 30
Bread mold
(Neurospora crassa)
Ascomycetes NCU00712 30
  • 58.15 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hmg1 30
  • 54.91 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2237 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for HMGCR: view image

Paralogs for HMGCR Gene

No data available for Paralogs for HMGCR Gene

Variants for HMGCR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HMGCR Gene

SNP ID Clinical significance and condition 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: HMG CoA reductase inhibitors response - Efficacy; pravastatin response - Efficacy; simvastatin response - Efficacy 75,347,030(+) A/T INTRON_VARIANT
rs5908 - p.Ile638Val

Additional dbSNP identifiers (rs#s) for HMGCR Gene

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

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

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HMGCR Gene

MalaCards: The human disease database

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

- 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
Open Targets Platform
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 23 41
  2. Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer. (PMID: 20403997) Lipkin SM … Gruber SB (Cancer prevention research (Philadelphia, Pa.) 2010) 3 23 41
  3. 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 23 41
  4. Dislocation of HMG-CoA reductase and Insig-1, two polytopic endoplasmic reticulum proteins, en route to proteasomal degradation. (PMID: 19458199) Leichner GS … Roitelman J (Molecular biology of the cell 2009) 3 4 23
  5. Interaction between HMGCR and ABCA1 cholesterol-related genes modulates Alzheimer's disease risk. (PMID: 19446537) Rodríguez-Rodríguez E … Combarros O (Brain research 2009) 3 23 41

Products for HMGCR Gene

  • Addgene plasmids for HMGCR

Sources for HMGCR Gene