• Gene id: 3158

Gene Summary

• Gene Symbol: HMGCS2   Gene   UCSC   Ensembl
• Gene name: 3-hydroxy-3-methylglutaryl-CoA synthase 2
• Alternate names: hydroxymethylglutaryl-CoA synthase, mitochondrial, 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial), 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial), HMG-CoA synthase, testicular tissue protein Li 88,
• Gene location: 1p12 (119768931: 119747995)     Exons: 10     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 600234

Protein Summary

• Protein general information: P54868  
  • Name: Hydroxymethylglutaryl CoA synthase, mitochondrial (HMG CoA synthase) (EC 2.3.3.10) (3 hydroxy 3 methylglutaryl coenzyme A synthase)
  • Length: 508  
  • Mass: 56635
  • Tissue specificity: Expression in liver is 200-fold higher than in any other tissue. Low expression in colon, kidney, testis, and pancreas. Very low expression in heart and skeletal muscle. Not detected in brain. The relative expression of isoform 3 (at m
• Sequence:

  MQRLLTPVKRILQLTRAVQETSLTPARLLPVAHQRFSTASAVPLAKTDTWPKDVGILALEVYFPAQYVDQTDLEK
  YNNVEAGKYTVGLGQTRMGFCSVQEDINSLCLTVVQRLMERIQLPWDSVGRLEVGTETIIDKSKAVKTVLMELFQ
  DSGNTDIEGIDTTNACYGGTASLFNAANWMESSSWDGRYAMVVCGDIAVYPSGNARPTGGAGAVAMLIGPKAPLA
  LERGLRGTHMENVYDFYKPNLASEYPIVDGKLSIQCYLRALDRCYTSYRKKIQNQWKQAGSDRPFTLDDLQYMIF
  HTPFCKMVQKSLARLMFNDFLSASSDTQTSLYKGLEAFGGLKLEDTYTNKDLDKALLKASQDMFDKKTKASLYLS
  THNGNMYTSSLYGCLASLLSHHSAQELAGSRIGAFSYGSGLAASFFSFRVSQDAAPGSPLDKLVSSTSDLPKRLA
  SRKCVSPEEFTEIMNQREQFYHKVNFSPPGDTNSLFPGTWYLERVDEQHRRKYARRPV

• Structural information:
  • Interpro: IPR000590  IPR013746  IPR013528  IPR010122  IPR016039  
  • Prosite: PS01226
  • PDB: 2WYA
  • PDBsum: 2WYA
  • STRING: ENSP00000358414
• Other Databases: GeneCards:  HMGCS2  Malacards:  HMGCS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010142	farnesyl diphosphate biosynthetic process, mevalonate pathway	IBA	biological process
GO:0006084	acetyl-CoA metabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	IBA	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0046951	ketone body biosynthetic process	IMP	biological process
GO:0006084	acetyl-CoA metabolic process	IMP	biological process
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	ISS	molecular function
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	IMP	molecular function
GO:0008299	isoprenoid biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	IEA	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	TAS	cellular component
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	IEA	molecular function
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	TAS	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0046951	ketone body biosynthetic process	TAS	biological process
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
HMG-CoA synthase deficiency	KEGG:H01123
HMG-CoA synthase deficiency	KEGG:H01123
hepatocellular carcinoma	PMID:28867541
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)