Version 5.4
| Homo sapiens Gene: HMGCS2 | |||||||||||||||||||
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| 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)
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| 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 1:119747996-119768905 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | p12 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Synthesis of Ketone Bodies pathway
PPARA activates gene expression pathway
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
Metabolism of lipids and lipoproteins pathway
Ketone body metabolism pathway
Metabolism pathway
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| KEGG |
Terpenoid backbone biosynthesis pathway
Valine, leucine and isoleucine degradation pathway
Butanoate metabolism pathway
Synthesis and degradation of ketone bodies pathway
PPAR signaling pathway pathway
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| INOH |
Butanoate metabolism pathway
Valine Leucine Isoleucine degradation pathway
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| PID NCI |
Validated targets of C-MYC transcriptional repression
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| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.592695 Hs.59889 | ||||||||||||||||||
| RefSeq | NM_001166107 NM_005518 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS53353 CCDS905 | ||||||||||||||||||
| HPRD | 02580 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||