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ACSM2A acyl-CoA synthetase medium chain family member 2A [ Homo sapiens (human) ]

Gene ID: 123876, updated on 3-Apr-2024

Summary

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Official Symbol
ACSM2Aprovided by HGNC
Official Full Name
acyl-CoA synthetase medium chain family member 2Aprovided by HGNC
Primary source
HGNC:HGNC:32017
See related
Ensembl:ENSG00000183747 MIM:614358; AllianceGenome:HGNC:32017
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACSM2; A-923A4.1
Summary
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]
Expression
Restricted expression toward kidney (RPKM 83.2) See more
Orthologs
all
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Genomic context

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Location:
16p12.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20451521..20487669)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20382562..20418674)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20462843..20498991)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase medium chain family member 5 Neighboring gene uncharacterized LOC105371119 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:20503203-20503703 Neighboring gene acyl-CoA synthetase medium chain family member 2B Neighboring gene uncharacterized LOC105371120

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 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. van der Sluis R, et al. Expert Opin Drug Metab Toxicol, 2016 Oct. PMID 27351777
  2. Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B. van der Sluis R. Mol Genet Genomics, 2018 Oct. PMID 29948332
  3. Association of CYP2C9, CYP2A6, ACSM2A, and CPT1A gene polymorphisms with adverse effects of valproic acid in Chinese patients with epilepsy. Wang C, et al. Epilepsy Res, 2017 May. PMID 28315807
  4. Comparative analyses of disease risk genes belonging to the acyl-CoA synthetase medium-chain (ACSM) family in human liver and cell lines. Boomgaarden I, et al. Biochem Genet, 2009 Oct. PMID 19634011
  5. Structural snapshots for the conformation-dependent catalysis by human medium-chain acyl-coenzyme A synthetase ACSM2A. Kochan G, et al. J Mol Biol, 2009 May 22. PMID 19345228

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This study assessed the naturally observed sequence diversity and protein expression variation of ACSM2A and ACSM2B. The allelic variation, haplotype diversity, Tajima's D values, and phylogenetic analyses indicated that ACSM2A and ACSM2B are highly conserved.The protein expression analyses showed that ACSM2A is the predominant transcript in liver.
    Title: Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  3. Results report the first crystal structure of a medium-chain acyl-CoA synthetase ACSM2A, in a series of substrate/product/cofactor complexes central to the catalytic mechanism.
    Title: Structural snapshots for the conformation-dependent catalysis by human medium-chain acyl-coenzyme A synthetase ACSM2A.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34659, MGC150530

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables benzoate-CoA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables butyrate-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables decanoate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables fatty acid ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables fatty-acyl-CoA synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glucose homeostasis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in medium-chain fatty-acyl-CoA metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in triglyceride homeostasis NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
acyl-coenzyme A synthetase ACSM2A, mitochondrial
Names
acyl-CoA synthetase medium-chain family member 2
benzoate--CoA ligase
butyrate--CoA ligase 2A
butyryl-coenzyme A synthetase 2A
middle-chain acyl-CoA synthetase 2A
NP_001295098.1
NP_001295101.1
NP_001295883.1
XP_016878412.1
XP_016878413.1
XP_016878414.1
XP_016878415.1
XP_047289547.1
XP_047289548.1
XP_054235528.1
XP_054235529.1
XP_054235530.1
XP_054235531.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054721.1 RefSeqGene

    Range
    5061..41209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308169.2 → NP_001295098.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR and coding region which results in the use of a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC137056, AI075158, AK298359, DC361518
    Consensus CDS
    CCDS76838.1
    UniProtKB/TrEMBL
    B7Z530, F5GWL3
    Related
    ENSP00000392169.2, ENST00000417235.6
    Conserved Domains (2) summary
    COG0365
    Location:2 → 486
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:1 → 489
    AFD_class_I; Adenylate forming domain, Class I superfamily

  2. NM_001308172.2 → NP_001295101.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001295101.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 encode the same isoform (1)
    Source sequence(s)
    AC137056, AI075158, BC125176
    Consensus CDS
    CCDS32401.1
    UniProtKB/Swiss-Prot
    B3KTT9, O75202, Q08AH3
    UniProtKB/TrEMBL
    A8K051
    Related
    ENSP00000459451.1, ENST00000573854.6
    Conserved Domains (1) summary
    cl17068
    Location:40 → 568
    AFD_class_I; Adenylate forming domain, Class I superfamily

  3. NM_001308954.2 → NP_001295883.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001295883.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AC137056, AI075158, AK096039
    Consensus CDS
    CCDS32401.1
    UniProtKB/Swiss-Prot
    B3KTT9, O75202, Q08AH3
    UniProtKB/TrEMBL
    A8K051
    Related
    ENSP00000460349.1, ENST00000575690.5
    Conserved Domains (1) summary
    cl17068
    Location:40 → 568
    AFD_class_I; Adenylate forming domain, Class I superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    20451521..20487669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022923.2 → XP_016878412.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B3KTT9, O75202, Q08AH3
    UniProtKB/TrEMBL
    A8K051
    Conserved Domains (1) summary
    cl17068
    Location:40 → 568
    AFD_class_I; Adenylate forming domain, Class I superfamily

  2. XM_047433591.1 → XP_047289547.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    B3KTT9, O75202, Q08AH3
    Related
    ENSP00000219054.6, ENST00000219054.10

  3. XM_017022925.2 → XP_016878414.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X3

    UniProtKB/TrEMBL
    B7Z8R0
    Related
    ENST00000575558.5

  4. XM_017022924.3 → XP_016878413.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X2

  5. XM_047433592.1 → XP_047289548.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X5

  6. XM_017022926.3 → XP_016878415.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X4

    UniProtKB/TrEMBL
    B3KP75

RNA

  1. XR_001751833.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    20382562..20418674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379553.1 → XP_054235528.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1

  2. XM_054379554.1 → XP_054235529.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1

  3. XM_054379555.1 → XP_054235530.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X2

  4. XM_054379556.1 → XP_054235531.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X4

RNA

  1. XR_008489053.1 RNA Sequence

  2. XR_008489052.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001010845.2: Suppressed sequence

    Description
    NM_001010845.2: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08AH3.2 GenPept UniProtKB/Swiss-Prot:Q08AH3

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