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ACAT2 Gene

protein-coding   GIFtS: 68
GCID: GC06P160182

Acetyl-CoA Acetyltransferase 2

(Previous names: acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme...)
  See ACAT2-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 Acetyltransferase 21 2     Acetyl-Coenzyme A Acetyltransferase 21
Acetoacetyl Coenzyme A Thiolase1 2     Acetyl-Coenzyme A Acetyltransferase 2 (Acetoacetyl Coenzyme A Thiolase)1
Acetyl-CoA Transferase-Like Protein2 3     Acetyl-CoA Acetyltransferase, Cytosolic2
Cytosolic Acetoacetyl-CoA Thiolase2 3     ACTL3
EC 2.3.1.93 8     EC 2.3.18

External Ids:    HGNC: 941   Entrez Gene: 392   Ensembl: ENSG000001204377   OMIM: 1006785   UniProtKB: Q9BWD13   

Export aliases for ACAT2 gene to outside databases

Previous GC identifers: GC06P159622 GC06P160056 GC06P160015 GC06P160092 GC06P160153 GC06P157652


(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 ACAT2 Gene:
The product of this gene is an enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA
thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and
human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ACAT2 Gene:
ACAT2 (acetyl-CoA acetyltransferase 2) is a protein-coding gene. Diseases associated with ACAT2 include acetyl coa acetyltransferase 2 deficiency, and thiolase deficiency. GO annotations related to this gene include acetyl-CoA C-acetyltransferase activity. An important paralog of this gene is HADHB.

Gene Wiki entry for ACAT2 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:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACAT2 gene promoter:
         STAT5B   GR   AML1a   MAZR   GR-beta   MyoD   FOXD3   POU2F1   POU2F1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACAT2 promoter sequence
   Search Chromatin IP Primers for ACAT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACAT2


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

Entrez Gene cytogenetic band: 6q25.3   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25.3-q26

ACAT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAT2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P160182:  view genomic region     (about GC identifiers)

Start:
160,181,360 bp from pter      End:
160,200,144 bp from pter
Size:
18,785 bases      Orientation:
plus 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: THIC_HUMAN, Q9BWD1 (See protein sequence)
Recommended Name: Acetyl-CoA acetyltransferase, cytosolic  
Size: 397 amino acids; 41351 Da
Subunit: Homotetramer
2 PDB 3D structures from and Proteopedia for ACAT2:
1WL4 (3D)        1WL5 (3D)    
Secondary accessions: E1P5B1 Q16146 Q5TCL7 Q8TDM4

Explore the universe of human proteins at neXtProt for ACAT2: NX_Q9BWD1

Explore proteomics data for ACAT2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys124, Lys235
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACAT2 (Q9BWD1) (see all 6)
     AGCGQNP  HMGITAEN  FEINEAFA  FDKEIVPV 


    See ACAT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005882.2  
    ENSEMBL proteins: 
     ENSP00000356015   ENSP00000437850  

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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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    Selected InterPro protein domains (see all 7):
     IPR020610 Thiolase_AS
     IPR020613 Thiolase_CS
     IPR016038 Thiolase-like_subgr
     IPR002155 Thiolase
     IPR020616 Thiolase_N

    Graphical View of Domain Structure for InterPro Entry Q9BWD1

    ProtoNet protein and cluster: Q9BWD1

    1 Blocks protein domain: IPB002155 Thiolase

    UniProtKB/Swiss-Prot: THIC_HUMAN, Q9BWD1
    Similarity: Belongs to the thiolase family


    Find genes that share domains with ACAT2           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: THIC_HUMAN, Q9BWD1
    Catalytic activity: 2 acetyl-CoA = CoA + acetoacetyl-CoA

         Genatlas biochemistry entry for ACAT2:
    acetoacetyl-CoA thiolase 2,cytosolic,overlapping in opposite orientation,the 3' region of t complex 1 (TCP1)

         Enzyme Numbers (IUBMB): EC 2.3.1.91 2 EC 2.3.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0003985acetyl-CoA C-acetyltransferase activity IDA7911016
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----
         
    Find genes that share ontologies with ACAT2           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Acat2 (no phenotypes)

    Find genes that share phenotypes with ACAT2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACAT2
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    miRNA
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    miRTarBase miRNAs that target ACAT2:
    hsa-mir-92a-3p (MIRT049046), hsa-mir-124-3p (MIRT022395)

    Block miRNA regulation of human, mouse, rat ACAT2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ACAT2:
    hsa-miR-466 hsa-miR-133a hsa-miR-548k hsa-miR-133b
    SwitchGear 3'UTR luciferase reporter plasmidACAT2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat ACAT2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ACAT2 (NM_005891)
    Sino Biological Human cDNA Clone for ACAT2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAT2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAT2


    (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
    THIC_HUMAN, Q9BWD1: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    nucleus4
    cytosol3
    peroxisome2
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ----

    Find genes that share ontologies with ACAT2           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 ACAT2 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    mevalonate pathway I0.00
    Terpenoid backbone biosynthesis0.34
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)0.00
    2Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    isoleucine degradation I0.00
    Propanoate metabolism0.31
    3tryptophan utilization II
    tryptophan utilization II0.71
    tryptophan degradation0.00
    tryptophan utilization I0.71
    glutaryl-CoA degradation0.00
    4Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid degradation0.42
    5Butanoate metabolism
    Butanoate metabolism
    Synthesis and degradation of ketone bodies0.00


    Find genes that share SuperPaths with ACAT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ACAT2
        Glucose / Energy Metabolism

    Selected BioSystems Pathways for ACAT2 (see all 8)
        isoleucine degradation I
    glutaryl-CoA degradation
    mevalonate pathway I
    superpathway of cholesterol biosynthesis
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)



    Selected Kegg Pathways  (Kegg details for ACAT2) (see all 14):
        Fatty acid degradation
    Synthesis and degradation of ketone bodies
    Valine, leucine and isoleucine degradation
    Lysine degradation
    Tryptophan metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAT2: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACAT2

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

    Selected Interacting proteins for ACAT2 (Q9BWD13 ENSP000003560154) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNASP630923, ENSP000003601414I2D: score=1 STRING: ENSP00000360141
    VDAC1P217963, ENSP000002653334I2D: score=1 STRING: ENSP00000265333
    CDX2Q996263, ENSP000003704084I2D: score=2 STRING: ENSP00000370408
    CSNK2A1P684003, ENSP000002172444I2D: score=2 STRING: ENSP00000217244
    CCNA1P783963, ENSP000002554654I2D: score=1 STRING: ENSP00000255465
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process IC7911016
    GO:0008152metabolic process ----

    Find genes that share ontologies with ACAT2           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 ACAT2 (THIC)

    4 HMDB Compounds for ACAT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Oxohexanoyl-CoA3-Oxohexanoyl-Coenzyme A (see all 6)19774-86-8--
    Acetoacetyl-CoA3-acetoacetyl-CoA (see all 9)1420-36-6--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--

    2 DrugBank Compounds for ACAT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Coenzyme A-- 85-61-0target--17139284 17016423
    S-Hydroxycysteine-- --target--17139284 17016423

    4 Novoseek inferred chemical compound relationships for ACAT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acetoacetyl coa 87.8 8 9607396 (2), 9380443 (2), 8812443 (1), 15733928 (1) (see all 5)
    acetyl-coa 63.6 2 11283790 (1), 10353914 (1)
    cholesterol 36.7 14 15451793 (4), 17438337 (3), 20405839 (3), 18340009 (2) (see all 5)
    lipid 0 1 10353914 (1)



    Find genes that share compounds with ACAT2           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 ACAT2 gene: 
    NM_005891.2  

    Unigene Cluster for ACAT2:

    Acetyl-CoA acetyltransferase 2
    Hs.571037  [show with all ESTs]
    Unigene Representative Sequence: AK294273
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367048(uc010kjy.3) ENST00000467951 ENST00000472052 ENST00000541436(uc011efw.2)

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate ACAT2:
    hsa-miR-466 hsa-miR-133a hsa-miR-548k hsa-miR-133b
    SwitchGear 3'UTR luciferase reporter plasmidACAT2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ACAT2 (NM_005891)
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      QuantiTect SYBR Green Assays in human, mouse, rat ACAT2
      QuantiFast Probe-based Assays in human, mouse, rat ACAT2

    Additional mRNA sequence: 

    AB208993.1 AF356877.1 AK225089.1 AK225244.1 AK291080.1 AK294273.1 BC000408.2 S70154.1 

    Selected DOTS entries (see all 33):

    DT.99989299  DT.100828792  DT.121326816  DT.100759125  DT.87079575  DT.86852813  DT.100884457  DT.121326761 
    DT.91782029  DT.75133091  DT.100884461  DT.119861  DT.100764164  DT.100884486  DT.121326756  DT.91782015 
    DT.100031509  DT.100031512  DT.102839912  DT.121326882  DT.121326956  DT.121327003  DT.95096573  DT.91782027 

    Selected AceView cDNA sequences (see all 438):

    BM910010 BM842064 AI570644 BQ648344 BQ066189 CB109550 BE900189 BM455412 
    BI752511 BI756309 AA341050 CR592880 BE793030 BQ876570 BE731713 BI858576 
    CR605843 BG698717 BM904187 CB107614 F06359 BE796920 BE794798 BM479433 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACAT2 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7 ^ 8a · 8b ^ 9
    SP1:              -     -     -     -                       -           -     -                                                         
    SP2:              -     -     -     -                       -           -                                                               
    SP3:                                                        -           -     -                                                         
    SP4:                                                        -           -     -                                                         
    SP5:                                                        -           -     -                                                         


    ECgene alternative splicing isoforms for ACAT2

    (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)
    About This Section

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    ACAT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAAGCTAA
    ACAT2 Expression
    About this image


    ACAT2 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
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Thymus (Hematopoietic System)
             Thymus
     
     Kidney (Urinary System)
             Metanephros
    ACAT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACAT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.571037
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAT2: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAT2

    (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 and fungi.

    Orthologs for ACAT2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acat21 , 5 acetyl-Coenzyme A acetyltransferase 21, 5 86.11(n)1
    87.88(a)1
      17 (8.73 cM)5
    1104601  NM_009338.31  NP_033364.21 
     129428905 
    chicken
    (Gallus gallus)
    Aves ACAT21 acetyl-CoA acetyltransferase 2 73.13(n)
    74.49(a)
      421587  NM_001039287.2  NP_001034376.2 
    lizard
    (Anolis carolinensis)
    Reptilia ACAT26
    acetyl-CoA acetyltransferase 2
    67(a)
    1 ↔ 1
    1(212197024-212213403)
    African clawed frog
    (Xenopus laevis)
    Amphibia ACAT22 acetyl-CoA acetyltransferase 2 74.83(n)    AF143489.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045949.12   -- 73.03(n)   30643  BC045949.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG91491 , 3 acetyl-CoA C-acetyltransferase3
    CG91491
    52(a)3
    55.81(n)1
    58.14(a)1
      61F53
    381471  NM_138250.31  NP_612094.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG106
    Acetyl-CoA C-acetyltransferase (acetoacetyl-CoA th...
    42(a)
    1 → many
    XVI(498096-499292) YPL028W


    ENSEMBL Gene Tree for ACAT2 (if available)
    TreeFam Gene Tree for ACAT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACAT2 gene
    HADHB2  ACAT12  ACAA22  
    4 SIMAP similar genes for ACAT2 using alignment to 2 protein entries:     THIC_HUMAN (see all proteins):
    ACAA2    ACAT1    ACAA1    HADHB

    Find genes that share paralogs with ACAT2           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 ACAT2 (see all 447)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs720971861,2
    C--157652266(+) ACTTC-/CG    
       CCCCG
    CGCCC
    1 -- us2k10--------
    rs2013299731,2
    --157656116(+) CGCCC-/CCCT  
            
    CCCCC
    1 -- int10--------
    rs1395644601,2
    C--157656117(+) GCCCC-/CCTCCCCC 1 -- int10--------
    rs602719121,2
    C--157656119(+) CCCCC-/T/T   
       C
    /TCC
    CCCGG
    2 -- int1 cds10--------
    rs754826221,2
    C--157656119(+) CCCCCG/TCCCCC 1 -- int10--------
    rs2009754391,2
    C--157656122(+) CCTCCC/GCCGGC 1 -- int10--------
    rs736013321,2
    C,F--160179377(+) ATCTTG/AGAAAG 1 -- us2k12Minor allele frequency- A:0.05WA 120
    rs21461621,2
    C,F,A,H--160179431(+) GGTAAG/ATTGAA 1 -- us2k129Minor allele frequency- A:0.28NS EA NA WA 2876
    rs1868226091,2
    --160179504(+) AGTGAA/TGTTTA 1 -- us2k10--------
    rs2000043221,2
    C--160179547(+) TTAAC-/AGAAGAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACAT2 (160181360 - 160200144 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ACAT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5563CNV Insertion18451855
    dgv2023e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): ACAT2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACAT2
    DNA2.0 Custom Variant and Variant Library Synthesis for ACAT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 100678   
    OMIM disorders: 614055  
    4 diseases for ACAT2:    
    About MalaCards
    acetyl coa acetyltransferase 2 deficiency    thiolase deficiency    ketothiolase deficiency    beta-ketothiolase deficiency

    1 disease from the University of Copenhagen DISEASES database for ACAT2:
    beta-ketothiolase deficiency

    Find genes that share disorders with ACAT2           About GenesLikeMe

    1 Novoseek inferred disease relationship for ACAT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atherosclerosis 22 3 14615411 (1), 15451793 (1)

    Genetic Association Database (GAD): ACAT2
    Human Genome Epidemiology (HuGE) Navigator: ACAT2 (21 documents)

    Export disorders for ACAT2 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 ACAT2 gene, integrated from 10 sources (see all 67):
    (articles sorted by number of sources associating them with ACAT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. High resolution crystal structures of human cytosolic thiolase (CT): a comparison of the active sites of human CT, bacterial thiolase, and bacterial KAS I. (PubMed id 15733928)1, 2, 9 Kursula P.... Wierenga R.K. (J. Mol. Biol. 2005)
    2. Molecular cloning and nucleotide sequence of complementary DNA for human hepatic cytosolic acetoacetyl-coenzyme A thiolase. (PubMed id 7911016)1, 2, 9 Song X.-Q....Orii T. (Biochem. Biophys. Res. Commun. 1994)
    3. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PubMed id 20167577)1, 4 Reynolds C.A....Prince J.A. (Hum. Mol. Genet. 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. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Association of candidate gene polymorphisms with chronic kidney disease in Japanese individuals with hypertension. (PubMed id 19282863)1, 4 Yoshida T....Yamada Y. (Hypertens. Res. 2009)
    8. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. ( international journal of clinical chemistry 2009)
    9. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    10. Prediction of genetic risk for dyslipidemia. (PubMed id 17919884)1, 4 Yamada Y....Nozawa Y. (Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 39 HGNC: 94 AceView: ACAT2 Ensembl:ENSG00000120437 euGenes: HUgn39
    ECgene: ACAT2 Kegg: 39 H-InvDB: ACAT2

    (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)
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    NameDescription
    PharmGKB entry for ACAT2 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 ACAT2 gene:
    Search GeneIP for patents involving ACAT2

    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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