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Hmgcs2
Gene Detail
 Symbol
Name
ID
Hmgcs2
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2
MGI:101939
Synonyms mHS
Feature Type protein coding gene
Genetic Map
Chromosome 3
42.74 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr3:98280435-98310738 bp, + strand
From VEGA annotation of GRCm38

  30304 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:38066  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: 3-hydroxy-3-methylglutaryl CoA synthase
Gene Tree: Hmgcs2

Human
homologs
Human Homolog HMGCS2, 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
NCBI Gene ID 3158
neXtProt AC  NX_P54868
Human Chr (Location)  1p13-p12; chr1:119747996-119768932 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human HMGCS2
Alleles
and
phenotypes
All alleles(2) : Targeted(2)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cholesterol biosynthetic process, cholesterol metabolic process, ...
Component mitochondrial inner membrane, mitochondrial matrix, ...
Function catalytic activity, hydroxymethylglutaryl-CoA synthase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (580)    Tissues (241)    Images (49)
Theiler Stages: 19, 20, 21, 22, 23, 27
Assay TypeResults
RNA in situ 580
cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(16) cDNA(15) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000026370 (Evidence)
Ensembl Gene ModelENSMUSG00000027875 (Evidence)
Entrez Gene15360 (Evidence)
DFCITC1572016
DoTSDT.55107670
NIA Mouse Gene IndexU021035
EC2.3.3.10
Consensus CDS ProjectCCDS17662.1
International Mouse Knockout Project StatusHmgcs2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026370 VEGA Gene Model | MGI Sequence Detail 30304 C57BL/6J ±  kb
transcript OTTMUST00000065218 VEGA | MGI Sequence Detail 2524 Not Applicable 
polypeptide OTTMUSP00000032468 VEGA | MGI Sequence Detail 508 Not Applicable 

For the selected sequences
All sequences(32) RefSeq(2) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(334 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR010122 Hydroxymethylglutaryl-CoA synthase, eukaryotic
InterPro IPR000590 Hydroxymethylglutaryl-coenzyme A synthase, active site
InterPro IPR013746 Hydroxymethylglutaryl-coenzyme A synthase C-terminal
InterPro IPR013528 Hydroxymethylglutaryl-coenzyme A synthase, N-terminal
InterPro IPR016039 Thiolase-like
InterPro IPR016038 Thiolase-like, subgroup
Protein Ontology PR:000008638 hydroxymethylglutaryl-CoA synthase, mitochondrial
References (Earliest) J:17114 Valera A, et al., Overexpression of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase in transgenic mice causes hepatic hyperketogenesis. J Biol Chem. 1994 Mar 4;269(9):6267-70
(Latest) J:201436 Chang I, et al., Endothelin-2 deficiency causes growth retardation, hypothermia, and emphysema in mice. J Clin Invest. 2013 Jun 3;123(6):2643-53
All references(48)
Other
accession IDs
MGD-MRK-18773

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory