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

    Gene ID: 123876, updated on 10-Dec-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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    See ACSM2A in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20451521..20487669)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20382562..20418674)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. The L513S polymorphism in medium-chain acyl-CoA synthetase 2 (MACS2) is associated with risk factors of the metabolic syndrome in a Caucasian study population. Lindner I, et al. Mol Nutr Food Res, 2006 Mar. PMID 16521160
    5. 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

    See all (18) 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 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 medium-chain fatty acid-CoA ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 HTP PubMed 
    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_2024_08

    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
      UniProtKB/TrEMBL
      A8K051
      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

      UniProtKB/TrEMBL
      A8K051

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

      UniProtKB/TrEMBL
      A8K051

    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

      UniProtKB/TrEMBL
      B3KP75

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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