3-hydroxy-3-methylglutaryl-CoA synthase 2

Summary
Gene Symbol
  • HMGCS2
Organism
Homo sapiens (human)
External Links
NCBI Gene
3158
HGNC
5008
KEGG Gene ID
hsa:3158
PubChem
3158
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cholesterol biosynthesis
  • Disease variant
  • Mitochondrion
  • Phosphoprotein
  • Reference proteome
  • Transferase
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A140VJL2
  • 3-hydroxy-3-methylglutaryl coenzyme A synthase
P54868
  • 3-hydroxy-3-methylglutaryl coenzyme A synthase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000134240

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01641
Name
hydroxymethylglutaryl-CoA synthase [EC:2.3.3.10]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 79 in total
DO ID Disease Name Source
DOID:0060262 gallbladder disease
DOID:0080199 colorectal carcinoma
DOID:0080348 Alzheimer's disease 1
DOID:0081168 HMG-CoA synthase 2 deficiency
DOID:0110035 Alzheimer's disease 2
DOID:0110037 Alzheimer's disease 5
DOID:0110038 Alzheimer's disease 6
DOID:0110039 Alzheimer's disease 7
DOID:0110041 Alzheimer's disease 8
DOID:0110043 Alzheimer's disease 10
The Human Phenotype Ontology
Displaying all 9 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001250 Seizure
HP:0001325 Hypoglycemic coma
HP:0001939 Abnormality of metabolism/homeostasis
HP:0001943 Hypoglycemia
HP:0002013 Vomiting
HP:0002014 Diarrhea
HP:0002240 Hepatomegaly
HP:0003593 Infantile onset
Displaying all 2 entries
Disease ID Disease Name
OMIM:605911
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
ORPHA:35701
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002585
Gene Name
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024