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ACAA2 Gene

protein-coding   GIFtS: 64
GCID: GC18M047309

Acetyl-CoA Acyltransferase 2

(Previous name: acetyl-Coenzyme A acyltransferase 2)
  See ACAA2-related diseases
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
Acetyl-CoA Acyltransferase 21 2     DSAEC2
Acetyl-Coenzyme A Acyltransferase 21 2     Beta Ketothiolase2
Mitochondrial 3-Oxoacyl-Coenzyme A Thiolase1 2     beta-ketothiolase2
Mitochondrial 3-Oxoacyl-CoA Thiolase2 3     Beta-ketothiolase3
T12 3     Acetyl-CoA Acyltransferase3
EC 2.3.1.163 8     EC 2.3.18
3-Ketoacyl-CoA Thiolase, Mitochondrial2     

External Ids:    HGNC: 831   Entrez Gene: 104492   Ensembl: ENSG000001673157   OMIM: 6047705   UniProtKB: P427653   

Export aliases for ACAA2 gene to outside databases

Previous GC identifers: GC18M047418 GC18M047109 GC18M047197 GC18M045562 GC18M045563 GC18M044164


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACAA2 Gene:
The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most
mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. (provided by RefSeq,
Jul 2008)

GeneCards Summary for ACAA2 Gene:
ACAA2 (acetyl-CoA acyltransferase 2) is a protein-coding gene. Diseases associated with ACAA2 include akinetic mutism, and ketothiolase deficiency. GO annotations related to this gene include acetyl-CoA C-acyltransferase activity. An important paralog of this gene is HADHB.

UniProtKB/Swiss-Prot: THIM_HUMAN, P42765
Function: Abolishes BNIP3-mediated apoptosis and mitochondrial damage

Gene Wiki entry for ACAA2 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_000018.9  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACAA2 gene promoter:
         Max1   HTF   LCR-F1   Arnt   YY1   Pax-3   HSF1short   ZID   Msx-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACAA2 promoter sequence
   Search Chromatin IP Primers for ACAA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACAA2


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

Entrez Gene cytogenetic band: 18q21.1   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q21

ACAA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAA2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M047309:  view genomic region     (about GC identifiers)

Start:
47,309,869 bp from pter      End:
47,340,330 bp from pter
Size:
30,462 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: THIM_HUMAN, P42765 (See protein sequence)
Recommended Name: 3-ketoacyl-CoA thiolase, mitochondrial  
Size: 397 amino acids; 41924 Da
Subunit: Homotetramer. Interacts with BNIP3
Secondary accessions: Q9BUT6

Explore the universe of human proteins at neXtProt for ACAA2: NX_P42765

Explore proteomics data for ACAA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACAA2 (P42765) (see all 10)
     AKRTPFG  VTAGNAS  GIGPVPA  CIGGGQGI 


    See ACAA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006102.2  
    ENSEMBL proteins: 
     ENSP00000285093   ENSP00000466466   ENSP00000466015   ENSP00000465045   ENSP00000465095  
     ENSP00000468157  

    ACAA2 Human Recombinant Protein Products:

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    Novus Biologicals ACAA2 Proteins
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    Browse Sino Biological Recombinant Proteins
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    ProSpec Recombinant Protein for ACAA2
    Cloud-Clone Corp. Proteins for ACAA2

     
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    antibodies-online proteins for ACAA2 (6 products) 

     
    antibodies-online peptides for ACAA2

    ACAA2 Antibody Products:

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    antibodies-online antibodies for ACAA2 (27 products) 

    ACAA2 Assay Products:

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    antibodies-online kits for ACAA2 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR002155 Thiolase
     IPR020610 Thiolase_AS
     IPR020616 Thiolase_N
     IPR020617 Thiolase_C
     IPR020613 Thiolase_CS

    Graphical View of Domain Structure for InterPro Entry P42765

    ProtoNet protein and cluster: P42765

    1 Blocks protein domain: IPB002155 Thiolase

    UniProtKB/Swiss-Prot: THIM_HUMAN, P42765
    Similarity: Belongs to the thiolase family


    Find genes that share domains with ACAA2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: THIM_HUMAN, P42765
    Function: Abolishes BNIP3-mediated apoptosis and mitochondrial damage
    Catalytic activity: Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA

         Genatlas biochemistry entry for ACAA2:
    acetyl-CoA acyltransferase 2,mitochondrial-3-oxoacyl-coenzyme A,thiolase,concluding the step of fatty acid beta
    oxidation

         Enzyme Numbers (IUBMB): EC 2.3.1.161 2 EC 2.3.12

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003988acetyl-CoA C-acyltransferase activity NAS8241273
    GO:0005515protein binding IPI18371312
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with ACAA2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ACAA2

    miRNA
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    miRTarBase miRNAs that target ACAA2:
    hsa-mir-124-3p (MIRT002662), hsa-mir-26b-5p (MIRT029760), hsa-mir-186-5p (MIRT045050)

    Block miRNA regulation of human, mouse, rat ACAA2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ACAA2:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidACAA2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ACAA2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ACAA2 (NM_006111)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAA2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAA2


    (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
    THIM_HUMAN, P42765: Mitochondrion. Note=Colocalizes with BNIP3 in the mitochondria
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome2
    chloroplast1
    endoplasmic reticulum1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion NAS8241273
    GO:0005743mitochondrial inner membrane IEA--

    Find genes that share ontologies with ACAA2           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 ACAA2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid degradation0.42
    2Synthesis of bile acids and bile salts
    bile acid biosynthesis, neutral pathway0.48
    3Metabolism
    Metabolic pathways0.38
    4Biosynthesis of unsaturated fatty acids
    Fatty acid elongation0.38
    5Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31


    Find genes that share SuperPaths with ACAA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ACAA2
        bile acid biosynthesis, neutral pathway
    fatty acid beta-oxidation I
    Fatty Acid Biosynthesis



    5 Kegg Pathways  (Kegg details for ACAA2):
        Fatty acid elongation
    Fatty acid degradation
    Valine, leucine and isoleucine degradation
    Metabolic pathways
    Fatty acid metabolism

    UniProtKB/Swiss-Prot: THIM_HUMAN, P42765
    Pathway: Lipid metabolism; fatty acid metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAA2: 

              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACAA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACAA2 (P427653 ENSP000002850934) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCP2P223073, ENSP000003605694I2D: score=2 STRING: ENSP00000360569
    YWHAGP619813I2D: score=2 
    DDA1Q9BW613I2D: score=1 
    KCNMA1Q127913I2D: score=1 
    SLC2A4P146723I2D: score=1 
    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:0006695cholesterol biosynthetic process NAS8241273
    GO:0008152metabolic process ----
    GO:1901029negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IDA18371312

    Find genes that share ontologies with ACAA2           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 ACAA2 (THIM)

    Selected HMDB Compounds for ACAA2 (see all 54)    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-Methylacetoacetyl-CoA2-Methyl-3-acetoacetyl-CoA (see all 10)6712-01-2--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3-Oxodecanoyl-CoA3-Ketodecanoyl-CoA (see all 3)50411-91-1--
    3-Oxododecanoyl-CoA3-oxododecanoyl-coenzyme A 78303-19-2--

    2 Novoseek inferred chemical compound relationships for ACAA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetoacetyl coa 82.1 2 8725269 (1)
    fatty acid 46.7 1 18371312 (1)



    Find genes that share compounds with ACAA2           About GenesLikeMe



    (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 ACAA2 gene: 
    NM_006111.2  

    Unigene Cluster for ACAA2:

    Acetyl-CoA acyltransferase 2
    Hs.200136  [show with all ESTs]
    Unigene Representative Sequence: NM_006111
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000285093(uc002ldw.4) ENST00000589432 ENST00000591171 ENST00000587994
    ENST00000586485 ENST00000585948 ENST00000586100
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate ACAA2:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidACAA2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK054673.1 AK225457.1 AK314462.1 BC001918.1 D16294.1 

    Selected DOTS entries (see all 26):

    DT.117893  DT.99955345  DT.95314270  DT.121105602  DT.91777567  DT.91777572  DT.95281870  DT.100879448 
    DT.121105519  DT.100879441  DT.102833996  DT.91777571  DT.102833995  DT.121280736  DT.100037407  DT.212947 
    DT.95314159  DT.108510  DT.121105500  DT.121105518  DT.121194033  DT.91777580  DT.40307186  DT.92033793 

    Selected AceView cDNA sequences (see all 640):

    AW025204 CR603122 CB162167 AK054673 BQ055230 AA219466 AI524808 BE465120 
    BU543091 AI310696 BM548746 CR599578 CB154100 AW072302 AW052130 AI468030 
    BQ642807 BM773145 AU121192 AF006747 BM795429 AI480195 BE326704 AA366465 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ACAA2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11
    SP1:                                                                          -               
    SP2:              -     -                                                                     
    SP3:                    -                                                                     
    SP4:                                                                                          


    ECgene alternative splicing isoforms for ACAA2

    (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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    ACAA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAGAAGTAC
    ACAA2 Expression
    About this image


    ACAA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Diencephalic Roof Plate
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Kidney (Urinary System)
             Metanephros
     
     NULL (Uncategorized)
             Adipose-derived stromal vascular fraction and adipocytes (HiQCell)
    ACAA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACAA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.200136
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAA2: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ACAA2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAA2

    (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)
    About This Section

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ACAA2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acaa21 , 5 acetyl-Coenzyme A acyltransferase 2 (mitochondrial more1, 5 83.63(n)1
    87.91(a)1
      18 (50.76 cM)5
    525381  NM_177470.31  NP_803421.11 
     747792125 
    chicken
    (Gallus gallus)
    Aves ACAA21 acetyl-CoA acyltransferase 2 74.81(n)
    79.35(a)
      426847  NM_001006571.2  NP_001006571.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACAA26
    acetyl-CoA acyltransferase 2
    70(a)
    1 ↔ 1
    2(9898-30605)
    African clawed frog
    (Xenopus laevis)
    Amphibia acaa2-prov2 acetyl-Coenzyme A acyltransferase 2 (mitochondrial more 75.6(n)    BC045119.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.55202 Danio rerio mRNA similar to DNA segment, Chr 18, ERATO more 74.74(n)    BC045876.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta yip21 , 3 acetyl-CoA C-acyltransferase3
    yippee interacting protein 21
    52(a)3
    57.87(n)1
    59.64(a)1
      30E43
    343131  NM_078804.41  NP_523528.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F53A2.71 , 3 Thiolases3
    F53A2.71
    55(a)3
    58.83(n)1
    56.33(a)1
      III(13416064-13417212)3
    1767561  NM_067351.61  NP_499752.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG106
    Acetyl-CoA C-acetyltransferase (acetoacetyl-CoA th...
    37(a)
    1 → many
    XVI(498096-499292) YPL028W


    ENSEMBL Gene Tree for ACAA2 (if available)
    TreeFam Gene Tree for ACAA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACAA2 gene
    HADHB2  ACAT12  ACAT22  
    4 SIMAP similar genes for ACAA2 using alignment to 5 protein entries:     THIM_HUMAN (see all proteins):
    ACAT2    ACAA1    ACAT1    HADHB

    Find genes that share paralogs with ACAA2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ACAA2
    PGOHUM00000241289


    (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 ACAA2 (see all 716)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs5066641,2
    H--47309431(+) TTAAGC/TTGgga 1 -- ds50014Minor allele frequency- T:0.00NS EA 404
    rs1488175611,2
    --47309433(+) AAGCTA/GGGAAG 1 -- ds50010--------
    rs1434624651,2
    --47309435(+) GCTGGG/TAAGAA 1 -- ds50010--------
    rs359179211,2
    C,F--47309523(+) AAGGTG/AGATGA 1 -- ds50018Minor allele frequency- A:0.15NA WA EA 368
    rs752761711,2
    C,F--47309540(+) AGAACA/GTTATA 1 -- ds50013Minor allele frequency- G:0.13WA NA EA 358
    rs1898086861,2
    --47309602(+) ACTTAC/TGAGGT 1 -- ds50010--------
    rs1479977571,2
    --47309617(+) CGAGTC/GATCAA 1 -- ds50010--------
    rs781983281,2
    C,F--47309673(+) TGGGAG/CAATCA 1 -- ds50012Minor allele frequency- C:0.04CSA WA 120
    rs1424795931,2
    --47309820(+) ATGTGA/TATCTT 1 -- ds50010--------
    rs1119192291,2
    C--47309882(+) AGTTAT/AGGCAA 1 -- ut311Minor allele frequency- A:0.00CSA 1

    HapMap Linkage Disequilibrium report for ACAA2 (47309869 - 47340330 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ACAA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516056CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACAA2
    DNA2.0 Custom Variant and Variant Library Synthesis for ACAA2

    (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.)
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    OMIM gene information: 604770    OMIM disorders: --

    4 diseases for ACAA2:    
    About MalaCards
    akinetic mutism    ketothiolase deficiency    mutism    beta-ketothiolase deficiency

    3 diseases from the University of Copenhagen DISEASES database for ACAA2:
    beta-ketothiolase deficiency     Akinetic mutism     Zellweger syndrome

    Find genes that share disorders with ACAA2           About GenesLikeMe

    Genetic Association Database (GAD): ACAA2
    Human Genome Epidemiology (HuGE) Navigator: ACAA2 (4 documents)

    Export disorders for ACAA2 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 ACAA2 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with ACAA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase. (PubMed id 8241273)1, 2, 3 Abe H.... Niimi H. (Biochim. Biophys. Acta 1993)
    2. Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines. (PubMed id 18371312)1, 2, 9 Cao W.... Lu H. (Biochim. Biophys. Acta 2008)
    3. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 2010)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. (PubMed id 18193044)1, 4 Kathiresan S....Orho-Melander M. (Nat. Genet. 2008)
    6. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)1, 2 Aboulaich N.... Vener A.V. (Biochem. J. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Inhibition of UBE2D3 expression attenuates radiosensitivity of MCF-7 human breast cancer cells by increasing hTERT expression and activity. (PubMed id 23741361)1 Wang W....Zhou Y. (PLoS ONE 2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)

    (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)
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    Entrez Gene: 10449 HGNC: 83 AceView: ACAA2andMYO5B Ensembl:ENSG00000167315 euGenes: HUgn10449
    ECgene: ACAA2 Kegg: 10449 H-InvDB: ACAA2

    (According to HUGE)
    About This Section

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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 ACAA2 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 ACAA2 gene:
    Search GeneIP for patents involving ACAA2

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



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