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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:98187751-98218054 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 42.74 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1050 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101939
 protein coding gene Chr3:98187747-98218054 (+)
129S1/SvImJ ENSMUSG00200043632
 protein coding gene Chr3:94819346-94849650 (+)
A/J ENSMUSG00195040615
 protein coding gene Chr3:95218184-95248488 (+)
AKR/J ENSMUSG00220038225
 protein coding gene Chr3:93570285-93600589 (+)
BALB/cJ ENSMUSG00180033221
 protein coding gene Chr3:95164863-95191006 (+)
C3H/HeJ ENSMUSG00175022163
 protein coding gene Chr3:94776473-94806777 (+)
C57BL/6NJ ENSMUSG00215033218
 protein coding gene Chr3:95546479-95576785 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025410
 protein coding gene Chr3:92333204-92357953 (+)
CAST/EiJ ENSTCUG00005018444
 protein coding gene Chr3:95479980-95507133 (+)
CBA/J ENSMUSG00210050664
 protein coding gene Chr3:95329444-95359747 (+)
DBA/2J ENSMUSG00185039308
 protein coding gene Chr3:95786852-95812995 (+)
FVB/NJ ENSMUSG00205020565
 protein coding gene Chr3:94445595-94475902 (+)
JF1/MsJ ENSUMUG00000037280
 protein coding gene Chr3:94694612-94720713 (+)
LP/J ENSMUSG00230040313
 protein coding gene Chr3:97747878-97778182 (+)
NOD/ShiLtJ ENSMUSG00190044735
 protein coding gene Chr3:95962103-95988256 (+)
NZO/HlLtJ ENSMUSG00225008425
 protein coding gene Chr3:100220020-100248150 (+)
PWK/PhJ ENSLUMG00010025310
 protein coding gene Chr3:94691908-94718082 (+)
SPRET/EiJ ENSMSPG00010036480
 protein coding gene Chr3:94970914-94993773 (+)
WSB/EiJ ENSIUOG00005024313
 protein coding gene Chr3:95355455-95381682 (+)



Homology
more
  • Human Ortholog
    HMGCS2, 3-hydroxy-3-methylglutaryl-CoA synthase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HMGCS2, 3-hydroxy-3-methylglutaryl-CoA synthase 2
  • Links
    NCBI Gene ID: 3158
    UniProt: P54868

  • Chr Location
    1p12; chr1:119747979-119769092 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hmgcs2 mouse models; 1 with human HMGCS2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 5 alleles in 5 genetic backgrounds
    8 phenotypes from multigenic genotypes
    33 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit increased postnatal lethality, decreased weight but increased body fat mass, hepatic steatosis, and impaired ketogenesis during P0 to P14 growth, with no increase in ketone levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    62
  • GO References
    15
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1189
  • Tissues
    243
  • cDNA Data
    17
  • Literature Summary
    22
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027875 Ensembl Gene Model | MGI Sequence Detail 30304 C57BL/6J ±  kb
    transcript ENSMUST00000120541 Ensembl | MGI Sequence Detail 2524 Not Applicable  
    polypeptide ENSMUSP00000113296 Ensembl | MGI Sequence Detail 508 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000008638 hydroxymethylglutaryl-CoA synthase, mitochondrial
      (term hierarchy)
    • EC
      2.3.3.10
    • 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
    • GlyGen
      P54869 2 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 17
      Primer pair 3
      Antibodies 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-18773
    References
    more
    • Summaries
      All 103
      Developmental Gene Expression 22
      Diseases 2
      Gene Ontology 15
      Phenotypes 33
    • 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:391504 Shay JES, et al., Ketogenic diet mediates intestinal tumorigenesis through lipids not ketones. Nature. 2026 Aug;656(8127):474-483
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory