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GeneE
9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ACSM2B
acyl-CoA synthetase medium chain family member 2B
Chromosome 16 · 16p12.3
NCBI Gene: 348158Ensembl: ENSG00000066813.14HGNC: HGNC:30931UniProt: H3BTX9
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
benzoate-CoA ligase activityprotein bindingmitochondrionacyl-CoA metabolic processcervical carcinomabipolar disordercancerestrogen-receptor negative breast cancer
✦AI Summary

ACSM2B (acyl-CoA synthetase medium chain family member 2B) catalyzes the first step in fatty acid metabolism by activating medium-chain fatty acids (C4-C10) to acyl-CoA intermediates 12. Located in the mitochondrial matrix, ACSM2B also metabolizes xenobiotics including benzoate (found in food preservatives) and salicylate (aspirin metabolite) through a two-step glycine conjugation pathway 34. The enzyme is the predominant ACSM transcript in human liver, with expression levels sixfold higher than other ACSM family members 5. ACSM2B is highly conserved across populations, suggesting its essential role in maintaining CoA and glycine homeostasis 3. Genome-wide association studies identified ACSM2B variants associated with serum metabolite levels in African Americans 6 and gout susceptibility in Japanese populations 7. Clinical significance includes ACSM2B's upregulation during cardiac ischemia/reperfusion injury recovery 8, and evidence that rare variants may impair benzoate detoxification capacity 9. The enzyme represents the second-most abundant ACS isoform in liver after ACSL1 10. However, kinetic characterization and effects of genetic variants on enzyme activity remain poorly understood.

Sources cited
1
ACSM2B catalyzes activation of medium-chain fatty acids and xenobiotics like benzoate to acyl-CoA
PMID: 10434065
2
ACSM2B activates medium-chain fatty acids (C4-C10) and carboxylate-containing xenobiotics
PMID: 12616642
3
ACSM2B participates in glycine conjugation pathway for detoxification of benzoate and salicylate; highly conserved; maintains CoA and glycine homeostasis
PMID: 29948332
4
ACSM2B is a xenobiotic/medium chain fatty acid:CoA ligase; detoxifies benzoate and salicylate; kinetic data lacking
PMID: 27351777
5
ACSM2B is predominant ACSM transcript in liver with sixfold higher expression than other ACSM isoforms; mitochondrial localization
PMID: 19634011
6
ACSM2B variants associated with serum metabolite levels in African American population
PMID: 24625756
7
ACSM2B identified as novel gout susceptibility locus in Japanese population GWAS
PMID: 32238385
8
ACSM2B upregulated in cardiac microvascular endothelial cells during ischemia/reperfusion injury
PMID: 28334711
9
ACSM2B is second-most expressed ACS isoform in human liver after ACSL1
PMID: 33121928
10
ACSM2B participates in glycine conjugation pathway; rare GLYAT variants may impair benzoate metabolism; accumulation of acyl-CoA intermediates can inhibit ACSM2B
PMID: 33803916
Disease Associationsⓘ20
cervical carcinomaOpen Targets
0.28Weak
bipolar disorderOpen Targets
0.27Weak
cancerOpen Targets
0.15Weak
estrogen-receptor negative breast cancerOpen Targets
0.13Weak
chronic kidney diseaseOpen Targets
0.06Suggestive
kidney failureOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.04Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.04Suggestive
acute tonsillitisOpen Targets
0.03Suggestive
kidney diseaseOpen Targets
0.03Suggestive
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
adolescent idiopathic scoliosisOpen Targets
0.02Suggestive
Acute hepatic failureOpen Targets
0.02Suggestive
esophageal cancerOpen Targets
0.02Suggestive
goutOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
acute kidney injuryOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACADSProtein interaction95%HSDL2Protein interaction79%ACSM5Shared pathway67%ACSM6Shared pathway67%ACSM4Shared pathway67%ACSM2AProtein interaction64%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Lung
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ACSM2BACADSHSDL2ACSM5ACSM6ACSM4ACSM2A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q68CK6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.62–0.96]
RankingsWhere ACSM2B stands among ~20K protein-coding genes
  • #15,194of 20,598
    Most Researched16
  • #8,994of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedACSM2B
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
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
1.00
2
Genetic determinants influencing human serum metabolome among African Americans.
PMID: 24625756
PLoS Genet · 2014
0.89
3
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
0.78
4
Subtype-specific gout susceptibility loci and enrichment of selection pressure on
PMID: 32238385
Ann Rheum Dis · 2020
0.67
5
Quantitative Proteomics Analysis of Ischemia/Reperfusion Injury-Modulated Proteins in Cardiac Microvascular Endothelial Cells and the Protective Role of Tongxinluo.
PMID: 28334711
Cell Physiol Biochem · 2017
0.56