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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ACSM2A
acyl-CoA synthetase medium chain family member 2A
Chromosome 16 · 16p12.3
NCBI Gene: 123876Ensembl: ENSG00000183747.12HGNC: HGNC:32017UniProt: B7Z530
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
medium-chain fatty-acyl-CoA metabolic processmitochondrionmedium-chain fatty acid-CoA ligase activityfatty-acyl-CoA synthase activityalcohol drinkinghyperpituitarismkidney failurekidney disease
✦AI Summary

ACSM2A (acyl-CoA synthetase medium chain family member 2A) catalyzes the activation of medium-chain fatty acids (C4-C10) and xenobiotics like benzoate by conjugating them to CoA, producing acyl-CoA—the essential first step in fatty acid metabolism 1. This two-step enzymatic process involves initial CoA-ligase activation followed by glycine conjugation for detoxification 2. Structurally, ACSM2A undergoes substantial domain rearrangement driven by ligand identity, with key residues including Lys557 and a conserved Arg-Glu salt bridge facilitating catalysis 3. ACSM2A is predominantly expressed in liver mitochondrial matrix and specifically in renal proximal tubular cells, where expression correlates with tubule maturation and function 4. Clinically, ACSM2A expression decreases in acute and chr16 kidney injury, suggesting utility as a novel biomarker for proximal tubular dysfunction 4. Additionally, ACSM2A is associated with metabolic health and inflammation regulation; genome-wide studies identified it among genes correlating with estimated glomerular filtration rate 5, and multiomics analysis linked ACSM2A to carotid plaque pathogenesis 6. While ACSM2A polymorphisms elevate transaminase levels, they show limited direct impact on valproic acid-induced hepatotoxicity 7. The gene remains highly conserved evolutionarily, emphasizing its essential role in metabolic homeostasis 2.

Sources cited
1
ACSM2A catalyzes activation of medium-chain fatty acids and xenobiotics as first step in fatty acid metabolism via CoA conjugation
PMID: 27351777
2
ACSM2A is part of two-step glycine conjugation pathway for xenobiotic detoxification and is predominant liver transcript; highly conserved across species
PMID: 29948332
3
ACSM2A undergoes domain rearrangement between N- and C-terminal domains during catalysis; Lys557 and Arg-Glu salt bridge coordinate ATP binding
PMID: 19345228
4
ACSM2A is specifically expressed in renal proximal tubular cells, increases with kidney maturation, and decreases in kidney injury; serves as biomarker for tubular dysfunction
PMID: 32830538
5
ACSM2A expression correlates with estimated glomerular filtration rate and kidney function in tubule and glomerular samples
PMID: 25231882
6
ACSM2A has multiomics evidence linking it to carotid plaque pathogenesis via mitochondrial dysfunction
PMID: 41548323
7
ACSM2A polymorphisms associate with elevated ALT and AST levels but not with valproic acid-induced liver dysfunction
PMID: 28315807
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.41Moderate
hyperpituitarismOpen Targets
0.28Weak
kidney failureOpen Targets
0.16Weak
kidney diseaseOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.04Suggestive
acute tonsillitisOpen Targets
0.04Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.04Suggestive
exercise-induced hyperinsulinismOpen Targets
0.03Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.03Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.03Suggestive
3-hydroxy-3-methylglutaryl-CoA synthase deficiencyOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
acute kidney injuryOpen Targets
0.02Suggestive
metabolic syndromeOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
epilepsyOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACADSProtein interaction95%HSDL2Protein interaction79%ACSM2BProtein interaction64%ACSM4Shared pathway50%ACSM6Shared pathway50%ACSM5Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Lung
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ACSM2AACADSHSDL2ACSM2BACSM4ACSM6ACSM5
PROTEIN STRUCTURE
Preparing viewer…
PDB3C5E · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.84–1.23]
RankingsWhere ACSM2A stands among ~20K protein-coding genes
  • #14,628of 20,598
    Most Researched18
  • #12,989of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedACSM2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Association of CYP2C9, CYP2A6, ACSM2A, and CPT1A gene polymorphisms with adverse effects of valproic acid in Chinese patients with epilepsy.
PMID: 28315807
Epilepsy Res · 2017
1.00
2
Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B.
PMID: 29948332
Mol Genet Genomics · 2018
0.90
3
Expression of
PMID: 32830538
Am J Physiol Renal Physiol · 2020
0.80
4
Xenobiotic/medium chain fatty acid: CoA ligase - a critical review on its role in fatty acid metabolism and the detoxification of benzoic acid and aspirin.
PMID: 27351777
Expert Opin Drug Metab Toxicol · 2016
0.70
5
Genome-wide analysis of the acyl-coenzyme A synthetase family and their association with the formation of goat milk flavour.
PMID: 36160020
Front Genet · 2022
0.60