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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
HMGCS2 3158 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)  1- 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
16940161   2006Cell line : CaCo 2

Source : ATCC

Sample Type : -

No. of Sample : -

Stage : -

Chromatin immunoprecipitation assay, immunohistochemistry Unknown-HMGCS2 protein expression is down-regulated preferentially in moderately and poorly differentiated carcinomas.


Gene Details



NC_000001.10 (120290619..120311555, complement)

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Gene Type protein coding
Gene Family -
Description 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]  
Chromosome 1
Location 1p13-p12
Start 120290619  
End 120311555  
Strand -  
Gene Sequence

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Length 20937  
OMIM ID 600234   
HGNC ID HGNC:5008   
Unigene ID Hs.59889   
Ensembl ID ENSG00000134240   
PharmGKB ID PA29338   

mRNA Information


mRNA ID NM_001166107.1
Exon join(194..385,4500..4954,9844..10008,11688..11853, 13529..13699,15740..15846,16452..16577,18218..18329, 20285..21130)  
mRNA Sequence

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Length 2351  



CDS Information


   
Location 89..1489
CDS Sequence

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CCDS ID CCDS53353.1



Protein Information


      
Protein IDNP_001159579.1
Protein Name3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
Molecular Wt. (Da)0
Protein Sequence

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Length 466  
Uniprot IDP78423
Ensembl Protein ID ENSP00000006053  



Post-translational Modification Information (Source : HPRD)


No matching records could be found.

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

No matching records from HPRD source could be found.

Pathway Information


                                    
Pathway Name Pathway ID
Butanoate metabolism hsa00650
Metabolic pathways hsa01100
PPAR signaling pathway hsa03320
Synthesis and degradation of ketone bodies hsa00072
Terpenoid backbone biosynthesis hsa00900
Valine, leucine and isoleucine degradation hsa00280


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd0082753-423  init_cond_enzymes
cl0993853-423  cond_enzymes superfamily
pfam08540224-506  HMG_CoA_synt_C
cl08483224-506  HMG_CoA_synt_C superfamily
pfam0115453-223  HMG_CoA_synt_N
pfam08545161-220  ACP_syn_III
TIGR0183350-506  HMG-CoA-S_euk
PLN0257751-508  PLN02577
COG342554-506  PksG
TIGR0183554-466  HMG-CoA-S_prok
TIGR0074853-429  HMG_CoA_syn_Arc
PRK0426252-441  PRK04262


Ontology Information


   
HPRD ID1718
Molecular ClassEnzyme: Synthase
Molecular FunctionReceptor activity (GO:0004872)
Biological ProcessCell communication (GO:0007154); Cell surface receptor linked signal transduction (GO:0007166); Cell adhesion (GO:0007155)  



SNP Information


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Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO