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    ACSM2B acyl-CoA synthetase medium chain family member 2B [ Homo sapiens (human) ]

    Gene ID: 348158, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ACSM2Bprovided by HGNC
    Official Full Name
    acyl-CoA synthetase medium chain family member 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:30931
    See related
    Ensembl:ENSG00000066813 MIM:614359; AllianceGenome:HGNC:30931
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HXMA; ACSM2; HYST1046
    Summary
    Enables benzoate-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward kidney (RPKM 155.6) 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 (20536226..20576367, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20467090..20507346, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20547548..20587689, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371119 Neighboring gene acyl-CoA synthetase medium chain family member 2A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:20503203-20503703 Neighboring gene uncharacterized LOC105371120 Neighboring gene acyl-coenzyme A synthetase ACSM5, mitochondrial-like

    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. Characterization of triacsin C inhibition of short-, medium-, and long-chain fatty acid: CoA ligases of human liver. Vessey DA, et al. J Biochem Mol Toxicol, 2004. PMID 15122652
    2. Isolation, sequencing, and expression of a cDNA for the HXM-A form of xenobiotic/medium-chain fatty acid:CoA ligase from human liver mitochondria. Vessey DA, et al. J Biochem Mol Toxicol, 2003. PMID 12616642
    3. Characterization of the reaction mechanism for the XL-I form of bovine liver xenobiotic/medium-chain fatty acid:CoA ligase. Vessey DA, et al. Biochem J, 2001 Jul 1. PMID 11415461, Free PMC Article
    4. Isolation from bovine liver mitochondria and characterization of three distinct carboxylic acid: CoA ligases with activity toward xenobiotics. Vessey DA, et al. J Biochem Toxicol, 1995 Dec. PMID 8934636
    5. Interaction of salicylate and ibuprofen with the carboxylic acid: CoA ligases from bovine liver mitochondria. Vessey DA, et al. J Biochem Toxicol, 1996. PMID 8884467

    See all (15) 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: Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.
    3. results suggest an involvement of the medium-chain acyl-CoA synthetase 2 (MACS2) Leu513Ser polymorphism in the development of the metabolic syndrome in Caucasian population
      Title: 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.
    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
    Genetic determinants influencing human serum metabolome among African Americans.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables CoA-ligase activity TAS
    Traceable Author Statement
    more info
    		  
    enables benzoate-CoA ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables butyrate-CoA ligase activity IEA
    Inferred from Electronic Annotation
    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    acyl-coenzyme A synthetase ACSM2B, mitochondrial
    Names
    acyl-CoA synthetase medium-chain family member 2
    benzoate--CoA ligase
    butyrate--CoA ligase 2B
    butyryl-coenzyme A synthetase 2B
    middle-chain acyl-CoA synthetase 2B
    xenobiotic/medium-chain fatty acid-CoA ligase HXM-A
    xenobiotic/medium-chain fatty acid:CoA ligase
    NP_001098539.1
    NP_001397831.1
    NP_872423.3
    XP_016878694.1
    XP_047290012.1
    XP_054236212.1
    XP_054236213.1
    XP_054236214.1
    XP_054236215.1

    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_001105069.2 → NP_001098539.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_001098539.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC141053, AC141273
      Consensus CDS
      CCDS10586.1
      UniProtKB/Swiss-Prot
      Q68CK6, Q86YT1
      UniProtKB/TrEMBL
      A8K051
      Related
      ENSP00000327453.6, ENST00000329697.10
      Conserved Domains (1) summary
      cl17068
      Location:40 → 568
      AFD_class_I; Adenylate forming domain, Class I superfamily

    2. NM_001410902.1 → NP_001397831.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC141053, AC141273
      Consensus CDS
      CCDS92120.1
      UniProtKB/TrEMBL
      H3BTX9
      Related
      ENSP00000457377.1, ENST00000565322.5

    3. NM_182617.4 → NP_872423.3  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_872423.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AC141053, AC141273
      Consensus CDS
      CCDS10586.1
      UniProtKB/Swiss-Prot
      Q68CK6, Q86YT1
      UniProtKB/TrEMBL
      A8K051
      Related
      ENSP00000456378.1, ENST00000567001.5
      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
      20536226..20576367 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434056.1 → XP_047290012.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X2

    2. XM_017023205.3 → XP_016878694.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X1

    RNA

    1. XR_001751899.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      20467090..20507346 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380237.1 → XP_054236212.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X3

    2. XM_054380240.1 → XP_054236215.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X4

    3. XM_054380238.1 → XP_054236213.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X1

    4. XM_054380239.1 → XP_054236214.1  acyl-coenzyme A synthetase ACSM2B, mitochondrial isoform X1

    RNA

    1. XR_008489084.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68CK6.2 GenPept UniProtKB/Swiss-Prot:Q68CK6

    Gene LinkOut

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