Gene:
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA29338

Details

Cytogenetic Location: chr1 : p12 - p12
GP mRNA Boundary: chr1 : 120290619 - 120311555
GP Gene Boundary: chr1 : 120287619 - 120321555
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Formation of Acetoacetic Acid - (Reactome via Pathway Interaction Database)

LinkOuts

NCBI Gene:
3158
OMIM:
600234
605911
UCSC Genome Browser:
NM_005518
RefSeq RNA:
NM_001166107
NM_005518
RefSeq Protein:
NP_001159579
NP_005509
RefSeq DNA:
NG_013348
NT_032977
UniProtKB:
HMCS2_HUMAN (P54868)
Ensembl:
ENSG00000134240
GenAtlas:
HMGCS2
GeneCard:
HMGCS2
MutDB:
HMGCS2
ALFRED:
LO080101K
HuGE:
HMGCS2
Comparative Toxicogenomics Database:
3158
ModBase:
P54868
HumanCyc Gene:
HS05836
HGNC:
5008

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