ACSM2A Gene

HGNC Family Acyl-CoA synthetase family (ACS)
Name acyl-CoA synthetase medium-chain family member 2A
Description This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event. [provided by RefSeq, May 2017]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ACSM2A, a member of the medium‐chain acyl‐CoA synthetase family, catalyzes the ATP‐dependent activation of medium‐chain fatty acids and related carboxylate substrates to form acyl‐CoA esters—a critical first step in both fatty acid metabolism and xenobiotic detoxification (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Structural studies have revealed that ACSM2A undergoes substantial ligand‐driven conformational changes, with a rearrangement between its N‐ and C‐terminal domains facilitating the two‐step catalytic mechanism that first forms an acyl‐adenylate intermediate and then proceeds to thioester formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Genetic and epigenetic analyses further underscore its clinical relevance. Polymorphisms in the ACSM2A gene have been associated with alterations in liver enzyme levels in patients undergoing valproic acid treatment, suggesting a modulatory role in drug metabolism even though these variations did not directly correlate with liver dysfunction."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In addition, differential methylation of ACSM2A has been observed in a cardiovascular disease context, with hypomethylation associated with an unaffected status in a twin study."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond the liver, ACSM2A expression appears to be pertinent to kidney function. Its inclusion among fatty acid oxidation pathway components is evidenced by its upregulation correlating with improved mitochondrial fatty acid metabolism and enhanced renal protection, for example in models where melatonin ameliorated cisplatin‐induced kidney injury"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", and in transcriptome analyses where expression levels correlated with glomerular filtration rate in chronic kidney disease."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, exome sequencing in transitional cell carcinoma has identified mutations in ACSM2A, highlighting its potential involvement in tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these findings illustrate that ACSM2A plays a multifaceted role in metabolic processes—ranging from fatty acid and drug activation to participation in pathways crucial for detoxification and renal as well as cardiovascular health—and that further characterization of its substrate specificity and regulation could have important translational implications."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Grazyna Kochan, Ewa S Pilka, Frank von Delft, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural snapshots for the conformation-dependent catalysis by human medium-chain acyl-coenzyme A synthetase ACSM2A."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2009.03.064"}], "href": "https://doi.org/10.1016/j.jmb.2009.03.064"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19345228"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19345228"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Rencia van der Sluis, Elardus Erasmus "}, {"type": "b", "children": [{"type": "t", "text": "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."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Expert Opin Drug Metab Toxicol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/17425255.2016.1206888"}], "href": "https://doi.org/10.1080/17425255.2016.1206888"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27351777"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27351777"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Can Wang, Ping Wang, Li-Ping Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of CYP2C9, CYP2A6, ACSM2A, and CPT1A gene polymorphisms with adverse effects of valproic acid in Chinese patients with epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsy Res (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.eplepsyres.2017.02.015"}], "href": "https://doi.org/10.1016/j.eplepsyres.2017.02.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28315807"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28315807"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Aylin Koseler, Feiyang Ma, Ismail Dogu Kilic, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide DNA Methylation Profiling of Blood from Monozygotic Twins Discordant for Myocardial Infarction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "In Vivo (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.21873/invivo.11782"}], "href": "https://doi.org/10.21873/invivo.11782"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31882500"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31882500"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Tao Sun, Di Wang, Baoying Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Melatonin attenuates cisplatin-induced acute kidney injury in mice: Involvement of PPARα and fatty acid oxidation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Food Chem Toxicol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.fct.2022.112970"}], "href": "https://doi.org/10.1016/j.fct.2022.112970"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35367536"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35367536"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Nora Ledo, Yi-An Ko, Ae-Seo Deok Park, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional genomic annotation of genetic risk loci highlights inflammation and epithelial biology networks in CKD."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Soc Nephrol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1681/ASN.2014010028"}], "href": "https://doi.org/10.1681/ASN.2014010028"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25231882"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25231882"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Huixing Pan, Xiaojian Xu, Deyao Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel somatic mutations identified by whole-exome sequencing in muscle-invasive transitional cell carcinoma of the bladder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncol Lett (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/ol.2016.4094"}], "href": "https://doi.org/10.3892/ol.2016.4094"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26893765"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26893765"}]}]}]}
Synonyms A-923A4.1, ACSM2
Proteins ACS2A_HUMAN
NCBI Gene ID 123876
API
Download Associations
Predicted Functions View ACSM2A's ARCHS4 Predicted Functions.
Co-expressed Genes View ACSM2A's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View ACSM2A's ARCHS4 Predicted Functions.

Functional Associations

ACSM2A has 1,871 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 78 datasets.

Click the + buttons to view associations for ACSM2A from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of ACSM2A gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles tissues with high or low expression of ACSM2A gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of ACSM2A gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of ACSM2A gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of ACSM2A gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with ACSM2A gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of ACSM2A gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of ACSM2A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of ACSM2A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing ACSM2A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing ACSM2A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with ACSM2A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with ACSM2A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of ACSM2A gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with ACSM2A gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
CTD Gene-Disease Associations diseases associated with ACSM2A gene/protein from the curated CTD Gene-Disease Associations dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by ACSM2A gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with ACSM2A gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with ACSM2A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with ACSM2A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with ACSM2A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at ACSM2A gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of ACSM2A gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of ACSM2A gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells PubMedIDs of publications reporting gene signatures containing ACSM2A from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with ACSM2A gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing ACSM2A from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of ACSM2A gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of ACSM2A gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of ACSM2A gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of ACSM2A gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of ACSM2A gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of ACSM2A gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Biological Process Annotations 2015 biological processes involving ACSM2A gene from the curated GO Biological Process Annotations 2015 dataset.
GO Biological Process Annotations 2023 biological processes involving ACSM2A gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving ACSM2A gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2015 cellular components containing ACSM2A protein from the curated GO Cellular Component Annotations 2015 dataset.
GO Cellular Component Annotations 2023 cellular components containing ACSM2A protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing ACSM2A protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2015 molecular functions performed by ACSM2A gene from the curated GO Molecular Function Annotations 2015 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by ACSM2A gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by ACSM2A gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of ACSM2A gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of ACSM2A gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of ACSM2A gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GWAS Catalog SNP-Phenotype Associations phenotypes associated with ACSM2A gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of ACSM2A gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HMDB Metabolites of Enzymes interacting metabolites for ACSM2A protein from the curated HMDB Metabolites of Enzymes dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of ACSM2A gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of ACSM2A protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of ACSM2A gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
HuBMAP ASCT+B Annotations cell types associated with ACSM2A gene from the HuBMAP ASCT+B dataset.
HuBMAP ASCT+B Augmented with RNA-seq Coexpression cell types associated with ACSM2A gene from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.
HuBMAP Azimuth Cell Type Annotations cell types associated with ACSM2A gene from the HuBMAP Azimuth Cell Type Annotations dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with ACSM2A gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for ACSM2A protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of ACSM2A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of ACSM2A gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of ACSM2A gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain ACSM2A protein from the LOCATE Predicted Protein Localization Annotations dataset.
MiRTarBase microRNA Targets microRNAs targeting ACSM2A gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of ACSM2A gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
MW Enzyme Metabolite Associations interacting metabolites for ACSM2A protein from the MW Gene Metabolite Associations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of ACSM2A gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PFOCR Pathway Figure Associations 2023 pathways involving ACSM2A protein from the PFOCR Pathway Figure Associations 2023 dataset.
PFOCR Pathway Figure Associations 2024 pathways involving ACSM2A protein from the Wikipathways PFOCR 2024 dataset.
Reactome Pathways 2014 pathways involving ACSM2A protein from the Reactome Pathways dataset.
Reactome Pathways 2024 pathways involving ACSM2A protein from the Reactome Pathways 2024 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of ACSM2A gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of ACSM2A gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of ACSM2A gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of ACSM2A gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of ACSM2A gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of ACSM2A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of ACSM2A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of ACSM2A protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with ACSM2A protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with ACSM2A protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.