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ACSM2B Gene

protein-coding   GIFtS: 52
GCID: GC16M020547

Acyl-CoA Synthetase Medium-Chain Family Member 2B

(Previous name: acyl-CoA synthetase medium-chain family member 2)
(Previous symbol: ACSM2)
  Search for ACSM2B
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acyl-CoA Synthetase Medium-Chain Family Member 2B1 2 3     EC 6.2.1.23 8
ACSM21 2 3     HXMA2 5
Acyl-CoA Synthetase Medium-Chain Family Member 21 2     Xenobiotic/Medium Chain Fatty Acid:CoA Ligase1
Butyrate--CoA Ligase 2B2 3     Acyl-Coenzyme A Synthetase ACSM2B, Mitochondrial2
Butyryl-Coenzyme A Synthetase 2B2 3     Xenobiotic/Medium-Chain Fatty Acid:CoA Ligase2
Middle-Chain Acyl-CoA Synthetase 2B2 3     EC 6.2.18
Xenobiotic/Medium-Chain Fatty Acid-CoA Ligase HXM-A2 3     

External Ids:    HGNC: 309311   Entrez Gene: 3481582   Ensembl: ENSG000000668137   OMIM: 6143595   UniProtKB: Q68CK63   

Export aliases for ACSM2B gene to outside databases

Previous GC identifers: GC16M020457 GC16M019084


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ACSM2B Gene:
ACSM2B (acyl-CoA synthetase medium-chain family member 2B) is a protein-coding gene. GO annotations related to this gene include butyrate-CoA ligase activity. An important paralog of this gene is C10orf129.

UniProtKB/Swiss-Prot: ACS2B_HUMAN, Q68CK6
Function: Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on
acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro)

Gene Wiki entry for ACSM2B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACSM2B gene promoter:
         AML1a   Pax-2a   NF-kappaB   GATA-2   E47   RORalpha1   NF-kappaB2   c-Myb   SEF-1 (1)   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACSM2B promoter sequence
   Search Chromatin IP Primers for ACSM2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACSM2B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.3   Ensembl cytogenetic band:  16p12.3   HGNC cytogenetic band: 16p12.3

ACSM2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSM2B gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M020547:  view genomic region     (about GC identifiers)

Start:
20,547,548 bp from pter      End:
20,587,749 bp from pter
Size:
40,202 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACS2B_HUMAN, Q68CK6 (See protein sequence)
Recommended Name: Acyl-coenzyme A synthetase ACSM2B, mitochondrial precursor  
Size: 577 amino acids; 64271 Da
Cofactor: Magnesium or manganese
Subunit: Monomer
Secondary accessions: Q86YT1

Explore the universe of human proteins at neXtProt for ACSM2B: NX_Q68CK6

Explore proteomics data for ACSM2B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACSM2B (Q68CK6) (see all 7)
     APYKYPR  SGYRIGP  GNVLPPG  DILYRLQ 


    See ACSM2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001098539.1  NP_872423.3  

    ENSEMBL proteins: 
     ENSP00000327453   ENSP00000457377   ENSP00000454995   ENSP00000456378   ENSP00000455137  
     ENSP00000454887   ENSP00000456369   ENSP00000455190   ENSP00000454247   ENSP00000455658  
     ENSP00000390378  
    Reactome Protein details: Q68CK6

    ACSM2B Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ACSM2B

     
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    ACSM2B Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ACS: Acyl-CoA synthetase family

    3 InterPro protein domains:
     IPR025110 AMP-bd_C
     IPR020845 AMP-binding_CS
     IPR000873 AMP-dep_Synth/Lig

    Graphical View of Domain Structure for InterPro Entry Q68CK6

    ProtoNet protein and cluster: Q68CK6

    1 Blocks protein domain: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACS2B_HUMAN, Q68CK6
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    Find genes that share domains with ACSM2B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACS2B_HUMAN, Q68CK6
    Function: Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on
    acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro)
    Catalytic activity: ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA
    Enzyme regulation: Activated by monovalent cations, such as potassium, rubidium or ammonium

         Enzyme Numbers (IUBMB): EC 6.2.1.21 2 EC 6.2.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003824catalytic activity ----
    GO:0005524ATP binding IEA--
    GO:0046872metal ion binding IEA--
    GO:0047760butyrate-CoA ligase activity IEA--
         
    Find genes that share ontologies with ACSM2B           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACSM2B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACSM2B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACSM2B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACSM2B

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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ACSM2B (NM_182617)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSM2B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSM2B
    Addgene plasmids for ACSM2B 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACS2B_HUMAN, Q68CK6: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion NAS19634011
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with ACSM2B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACSM2B About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Conjugation of carboxylic acids
    Conjugation of carboxylic acids0.30
    Conjugation of phenylacetate with glutamine0.00
    Conjugation of salicylate with glycine0.00
    Amino Acid conjugation0.00
    Conjugation of benzoate with glycine0.00
    3Biological oxidations
    Biological oxidations0.56
    Phase II conjugation0.56
    4Valproic Acid Pathway, Pharmacokinetics
    Valproic Acid Pathway, Pharmacokinetics
    5Butanoate metabolism
    Butanoate metabolism


    Find genes that share SuperPaths with ACSM2B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for ACSM2B
        Conjugation of phenylacetate with glutamine
    Conjugation of benzoate with glycine
    Conjugation of salicylate with glycine

    1 PharmGKB Pathway for ACSM2B
        Valproic Acid Pathway, Pharmacokinetics

    2 Kegg Pathways  (Kegg details for ACSM2B):
        Butanoate metabolism
    Metabolic pathways

        Pathway & Disease-focused RT2 Profiler PCR Array including ACSM2B: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACSM2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for ACSM2B (Q68CK63 ENSP000003274534) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    ACADSENSP000002425924STRING: ENSP00000242592
    CCSENSP000003078704STRING: ENSP00000307870
    MON2ENSP000003772524STRING: ENSP00000377252
    ALG6ENSP000003601494STRING: ENSP00000360149
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process IEA--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with ACSM2B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACSM2B (ACS2B)

    Selected HMDB Compounds for ACSM2B (see all 41)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACSM2B gene (2 alternative transcripts): 
    NM_001105069.1  NM_182617.3  

    Unigene Clusters for ACSM2B:

    Acyl-CoA synthetase medium-chain family member 2B
    Hs.298252  [show with all ESTs], Hs.567879  [show with all ESTs]
    Unigene Representative Sequences: NM_001010845, NM_182617
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000329697(uc002dhj.4 uc002dhk.4) ENST00000566998 ENST00000565322
    ENST00000565232 ENST00000567001 ENST00000568098 ENST00000564849 ENST00000569131
    ENST00000569364(uc010bwf.1) ENST00000563943 ENST00000567288 ENST00000569327
    ENST00000569163 ENST00000568882 ENST00000566384 ENST00000569344 ENST00000562026
    ENST00000564855
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACSM2B
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSM2B
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    Addgene plasmids for ACSM2B 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ACSM2B
      QuantiTect SYBR Green Assays in human, mouse, rat ACSM2B
      QuantiFast Probe-based Assays in human, mouse, rat ACSM2B

    Additional mRNA sequence: 

    AK129944.1 AK309601.1 BC026010.1 

    14 DOTS entries:

    DT.95213309  DT.111109  DT.100794152  DT.92429486  DT.120715984  DT.92068161  DT.86855341  DT.86840851 
    DT.40209231  DT.91671853  DT.100023997  DT.100023998  DT.40274534  DT.91836818 

    Selected AceView cDNA sequences (see all 71):

    CB162130 AW772619 AW300484 AI763277 AV720328 AW051750 AI478285 AB073604 
    AI076565 BE221958 AI310515 AA865601 BI765323 AA001337 AI310517 AK129944 
    BG432319 AV653859 AA001925 CB163791 BV205425 AA894912 BG401718 CB147210 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACSM2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACSM2B Expression
    About this image

    ACSM2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACSM2B Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.298252 Hs.567879

    UniProtKB/Swiss-Prot: ACS2B_HUMAN, Q68CK6
    Tissue specificity: Detected in liver

        Pathway & Disease-focused RT2 Profiler PCR Array including ACSM2B: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ACSM2B
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ACSM2B
    QuantiTect SYBR Green Assays in human, mouse, rat ACSM2B
    QuantiFast Probe-based Assays in human, mouse, rat ACSM2B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSM2B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ACSM2B gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    fruit fly
    (Drosophila melanogaster)
    Insecta CG45636
    --
    18(a)
    many ↔ many
    2R(20338605-20340560)
    worm
    (Caenorhabditis elegans)
    Secernentea acs-166
    Protein ACS-16 (acs-16) mRNA, complete cds
    17(a)
    1 → many
    I(1471297-1479924) WBGene00018579
            Species with no ortholog for ACSM2B

    ENSEMBL Gene Tree for ACSM2B (if available)
    TreeFam Gene Tree for ACSM2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACSM2B gene
    C10orf1292  ACSM52  ACSM32  ACSS22  ACSM2A2  ACSM12  ACSM42  ACSS12  
    ACSF22  
    12 SIMAP similar genes for ACSM2B using alignment to 8 protein entries:     ACS2B_HUMAN (see all proteins):
    ACSM2A    C10orf129    ACSM4    ACSM3    NPIPB5    NPIPB3
    NPIPB4    ACSM1    ACSM5    LOC101929910    A-923A4.2    ACSM6

    Find genes that share paralogs with ACSM2B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACSM2B (see all 1195)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1481368611,2
    Cuntested120570625(+) CACACG/AATCCC 4 /R /C mis11Minor allele frequency- A:0.00NA 4532
    rs1435196511,2
    --20547648(+) AGGTAG/TGGGTA 2 -- ds50010--------
    rs99328791,2
    C,A--20547794(+) ATGGTA/GGTTCC 2 -- ds50014Minor allele frequency- G:0.12NA WA CSA 8
    rs99329931,2
    C,A--20548075(+) TTTTAA/CAATTt 2 -- ds50010--------
    rs1823813691,2
    --20548221(+) CTTCTA/GTCTTT 2 -- ut310--------
    rs713844771,2
    C--20548251(+) CTTTCT/CTTTCT 2 -- ut312Minor allele frequency- C:0.25NA 4
    rs116456611,2
    C,H--20548280(+) CTCTCG/ACCTTC 2 -- ut314Minor allele frequency- A:0.15NA WA EA 242
    rs74042981,2
    C,F,H--20548334(+) TTTAAT/CATTTC 2 -- ut3129Minor allele frequency- C:0.20NS EA NA WA CSA 2747
    rs620350521,2
    F--20548343(+) TCCCTG/AACTTA 2 -- ut311Minor allele frequency- A:0.50NA 2
    rs1920624431,2
    --20548418(+) TTTCAA/GTATCT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ACSM2B (20547548 - 20587749 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ACSM2B (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv103483CNV Insertion16902084
    nsv436835CNV Insertion17901297
    nsv507808CNV Insertion20534489
    nsv1760CNV Loss18451855
    nsv905574CNV Loss21882294
    esv27489CNV Loss19812545
    nsv833164CNV Loss17160897
    nsv905573CNV Loss21882294
    esv2533542CNV Loss19546169
    nsv521570CNV Gain19592680

    Human Gene Mutation Database (HGMD): ACSM2B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACSM2B
    DNA2.0 Custom Variant and Variant Library Synthesis for ACSM2B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 614359    OMIM disorders: --


    Find genes that share disorders with ACSM2B           About GenesLikeMe

    Genetic Association Database (GAD): ACSM2B
    Human Genome Epidemiology (HuGE) Navigator: ACSM2B (2 documents)

    Export disorders for ACSM2B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACSM2B gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with ACSM2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation, sequencing, and expression of a cDNA for the HXM-A form of xenobiotic/medium-chain fatty acid:CoA ligase from human liver mitochondria. (PubMed id 12616642)1, 2, 3 Vessey D.A.... Warren R.S. (J. Biochem. Mol. Toxicol. 2003)
    2. Comparative analyses of disease risk genes belonging to the acyl-CoA synthetase medium-chain (ACSM) family in human liver and cell lines. (PubMed id 19634011)1, 2, 9 Boomgaarden I.... Doering F. (Biochem. Genet. 2009)
    3. 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. (PubMed id 16521160)1, 4 Lindner I.... Doering F. (Mol. Nutr. Food Res. 2006)
    4. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PubMed id 15221005)1, 2 Yamada S....Nakagawara A. (Oncogene 2004)
    5. Characterization of the CoA ligases of human liver mitochondria catalyzing the activation of short- and medium-chain fatty acids and xenobiotic carboxylic acids. (PubMed id 10434065)1, 2 Vessey D.A.... Warren R.S. (Biochim. Biophys. Acta 1999)
    6. Characterization of triacsin C inhibition of short-, medium-, and long-chain fatty acid: CoA ligases of human liver. (PubMed id 15122652)1, 9 Vessey D.A....Warren R.S. (J. Biochem. Mol. Toxicol. 2004)
    7. Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients. (PubMed id 20679960)1 Hu M....Tomlinson B. (Pharmacogenet. Genomics 2010)
    8. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    9. Characterization of the reaction mechanism for the XL-I form of bovine liver xenobiotic/medium-chain fatty acid:CoA ligase. (PubMed id 11415461)1 Vessey D.A. and Kelley M. (Biochem. J. 2001)
    10. Interaction of salicylate and ibuprofen with the carboxylic acid: CoA ligases from bovine liver mitochondria. (PubMed id 8884467)1 Vessey D.A....Kelley M. (J. Biochem. Toxicol. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 348158 HGNC: 30931 AceView: HXMA Ensembl:ENSG00000066813 euGenes: HUgn348158
    ECgene: ACSM2B Kegg: 348158 H-InvDB: ACSM2B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ACSM2B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ACSM2B gene:
    Search GeneIP for patents involving ACSM2B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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