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    Acsm2 acyl-CoA synthetase medium-chain family member 2 [ Mus musculus (house mouse) ]

    Gene ID: 233799, updated on 8-Feb-2024

    Summary

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    Official Symbol
    Acsm2provided by MGI
    Official Full Name
    acyl-CoA synthetase medium-chain family member 2provided by MGI
    Primary source
    MGI:MGI:2385289
    See related
    Ensembl:ENSMUSG00000030945 AllianceGenome:MGI:2385289
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable acid-thiol ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Predicted to act upstream of or within fatty acid metabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; cranium; genitourinary system; and integumental system. Orthologous to several human genes including ACSM2B (acyl-CoA synthetase medium chain family member 2B). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward kidney adult (RPKM 70.4) See more
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    Genomic context

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    Location:
    7 F2; 7 63.97 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (119153563..119199917)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (119554340..119600694)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene uromodulin Neighboring gene protein disulfide isomerase-like, testis expressed Neighboring gene acyl-CoA synthetase medium-chain family member 5 Neighboring gene predicted gene, 39078 Neighboring gene predicted gene, 39079 Neighboring gene acyl-CoA synthetase medium-chain family member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Expression of Acsm2, a kidney-specific gene, parallels the function and maturation of proximal tubular cells. Watanabe H, et al. Am J Physiol Renal Physiol, 2020 Oct 1. PMID 32830538, Free PMC Article
    2. Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Calvo SE, et al. Proc Natl Acad Sci U S A, 2009 May 5. PMID 19372376, Free PMC Article
    3. Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways. Narayan SB, et al. PLoS One, 2012. PMID 22496890, Free PMC Article
    4. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
    5. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of Acsm2, a kidney-specific gene, parallels the function and maturation of proximal tubular cells.
      Title: Expression of Acsm2, a kidney-specific gene, parallels the function and maturation of proximal tubular cells.
    2. Includes the study of an upstream ORF in this gene, and shows that it functions to reduce protein levels by ~50%.
      Title: Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC37245

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables benzoate-CoA ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables butyrate-CoA ligase activity ISO
    Inferred from Sequence Orthology
    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 ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables medium-chain fatty acid-CoA ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide 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
    		  
    acts_upstream_of_or_within fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    acyl-coenzyme A synthetase ACSM2, mitochondrial
    Names
    benzoate--CoA ligase
    butyrate--CoA ligase 2
    butyryl-coenzyme A synthetase 2
    middle-chain acyl-CoA synthetase 2
    NP_001171448.1
    NP_001171449.1
    NP_666309.1

    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.

    mRNA and Protein(s)

    1. NM_001177977.1 → NP_001171448.1  acyl-coenzyme A synthetase ACSM2, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001171448.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC134587, AK140827, AK165449
      Consensus CDS
      CCDS52379.1
      UniProtKB/Swiss-Prot
      Q8K0L3
      Related
      ENSMUSP00000095690.4, ENSMUST00000098084.11
      Conserved Domains (2) summary
      COG0365
      Location:65 → 591
      Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
      cl17068
      Location:66 → 594
      AFD_class_I; Adenylate forming domain, Class I superfamily

    2. NM_001177978.1 → NP_001171449.1  acyl-coenzyme A synthetase ACSM2, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001171449.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC125147, AC134587, AK165401, AK165449
      Consensus CDS
      CCDS52380.1
      UniProtKB/Swiss-Prot
      Q8K0L3
      Related
      ENSMUSP00000081697.7, ENSMUST00000084647.13
      Conserved Domains (2) summary
      COG0365
      Location:40 → 571
      Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
      cl17068
      Location:41 → 574
      AFD_class_I; Adenylate forming domain, Class I superfamily

    3. NM_146197.4 → NP_666309.1  acyl-coenzyme A synthetase ACSM2, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_666309.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC125147, AC134587, AK165353, AK165449
      Consensus CDS
      CCDS21782.1
      UniProtKB/Swiss-Prot
      Q3TNC6, Q3US47, Q8K0L3, Q8R1L3, Q96LX4
      Related
      ENSMUSP00000126670.4, ENSMUST00000167935.10
      Conserved Domains (1) summary
      cl17068
      Location:41 → 569
      AFD_class_I; Adenylate forming domain, Class I superfamily

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      119153563..119199917
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K0L3.1 GenPept UniProtKB/Swiss-Prot:Q8K0L3

    Gene LinkOut

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

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