Homo sapiens Gene: HMGCS2
Summary
InnateDB Gene IDBG-101527.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HMGCS2
Gene Name 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000134240
Encoded Proteins
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:119747996-119768905
Strand Reverse strand
Band p12
Transcripts
ENST00000369406 ENSP00000358414
ENST00000472375
ENST00000476640
ENST00000544913 ENSP00000439495
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004421 hydroxymethylglutaryl-CoA synthase activity
Biological Process
GO:0006695 cholesterol biosynthetic process
GO:0008152 metabolic process
GO:0008299 isoprenoid biosynthetic process
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0046950 cellular ketone body metabolic process
GO:0046951 ketone body biosynthetic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Ketone body metabolism pathway
PPARA activates gene expression pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Metabolism pathway
Synthesis of Ketone Bodies pathway
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) pathway
KEGG
Synthesis and degradation of ketone bodies pathway
Valine, leucine and isoleucine degradation pathway
Butanoate metabolism pathway
Terpenoid backbone biosynthesis pathway
PPAR signaling pathway pathway
INOH
Butanoate metabolism pathway
Valine Leucine Isoleucine degradation pathway
PID BIOCARTA
PID NCI
Validated targets of C-MYC transcriptional repression
Cross-References
SwissProt P54868
TrEMBL
UniProt Splice Variant
Entrez Gene 3158
UniGene Hs.592695 Hs.59889
RefSeq NM_005518 NM_001166107
HUGO HGNC:5008
OMIM 600234
CCDS CCDS905 CCDS53353
HPRD 02580
IMGT
EMBL AK303777 AL589734 BC044217 CH471122 CR456850 GU433940 U12788 U12789 U81851 U81852 U81853 U81854 U81855 U81856 U81857 U81858 U81859 X83618
GenPept AAA92673 AAA92674 AAB72036 AAH44217 ADD21696 BAH14049 CAA58593 CAG33131 CAI22408 EAW56709
RNA Seq Atlas 3158