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

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

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001308169.2NP_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:2486
      Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
      cl17068
      Location:1489
      AFD_class_I; Adenylate forming domain, Class I superfamily
    2. NM_001308172.2NP_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:40568
      AFD_class_I; Adenylate forming domain, Class I superfamily
    3. NM_001308954.2NP_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:40568
      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_017022923.2XP_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:40568
      AFD_class_I; Adenylate forming domain, Class I superfamily
    2. XM_047433591.1XP_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_017022925.2XP_016878414.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X3

      UniProtKB/TrEMBL
      B7Z8R0
      Related
      ENST00000575558.5
    4. XM_017022924.3XP_016878413.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X2

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

    6. XM_017022926.3XP_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_054379553.1XP_054235528.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A8K051
    2. XM_054379554.1XP_054235529.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A8K051
    3. XM_054379555.1XP_054235530.1  acyl-coenzyme A synthetase ACSM2A, mitochondrial isoform X2

    4. XM_054379556.1XP_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.