Hs07423159_cn

• Gene Symbol: HMGCR
• Assay Reference Genome Location: Chr.5:75337035 on build GRCh38
• Cytoband: 5q13.3

Target Gene Details

• Entrez Gene ID: 3156
• Gene Name: 3-hydroxy-3-methylglutaryl-CoA reductase
• Gene Aliases: LDLCQ3
• Location: Chr.5:75336334-75362101 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HMGCR	XM_011543357.1			XP_011541659.1
	XM_011543359.1			XP_011541661.1
	AK296499.1
	M62627.1	1	117

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3575856	Chr.5:75260838 - 75400813 on Build GRCh38	Gain	COL4A3BP HMGCR

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase, reductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

cholesterol biosynthetic process
ubiquinone metabolic process
aging
response to nutrient
isoprenoid biosynthetic process
visual learning
negative regulation of striated muscle cell apoptotic process
positive regulation of cardiac muscle cell apoptotic process
coenzyme A metabolic process
positive regulation of stress-activated MAPK cascade
negative regulation of MAP kinase activity
myoblast differentiation
response to ethanol
negative regulation of vasodilation
positive regulation of skeletal muscle tissue development
positive regulation of smooth muscle cell proliferation
protein tetramerization
oxidation-reduction process
negative regulation of wound healing
negative regulation of insulin secretion involved in cellular response to glucose stimulus
positive regulation of ERK1 and ERK2 cascade

Function(s)

hydroxymethylglutaryl-CoA reductase (NADPH) activity
protein binding
hydroxymethylglutaryl-CoA reductase activity
protein homodimerization activity
coenzyme binding
protein phosphatase 2A binding
NADPH binding