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Hmgcs2 Gene Detail
Summary
  • Symbol
    Hmgcs2
  • Name
    3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2
  • Synonyms
    mHS
  • Feature Type
    protein coding gene
  • IDs
    MGI:101939
    NCBI Gene: 15360
  • Gene Overview
    MyGene.info: HMGCS2
Location & Maps
more
  • Sequence Map
    Chr3:98280435-98310738 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      30304 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 42.74 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    HMGCS2, 3-hydroxy-3-methylglutaryl-CoA synthase 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    HMGCS2, 3-hydroxy-3-methylglutaryl-CoA synthase 2
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 3158
    neXtProt AC: NX_P54868

  • Chr Location
    1p13-p12; chr1:119747996-119769125 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human HMGCS2 associations

Human Disease Mouse Models
       3-hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency; HMGCS2D   OMIM: 605911
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotype references
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Hmgcs2
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    334 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000008638 hydroxymethylglutaryl-CoA synthase, mitochondrial
  • EC
  • InterPro Domains
    IPR010122 Hydroxymethylglutaryl-CoA synthase, eukaryotic
    IPR000590 Hydroxymethylglutaryl-coenzyme A synthase, active site
    IPR013746 Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain
    IPR013528 Hydroxymethylglutaryl-coenzyme A synthase, N-terminal
    IPR016039 Thiolase-like
Molecular
Reagents
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  • All nucleic 16
    cDNA 15
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-18773
References
more
  • Summaries
    All 48
    Developmental Gene Expression 13
    Gene Ontology 8
    Phenotypes 5
  • 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:224387 Sisecioglu M, et al., A compendium of expression patterns of cholesterol biosynthetic enzymes in the mouse embryo. J Lipid Res. 2015 Aug;56(8):1551-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory