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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACAT2 Gene

protein-coding   GIFtS: 67
GCID: GC06P160153

acetyl-CoA acetyltransferase 2

(Previous names: acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme...)
 Explore 19 diseases affiliated with
ACAT2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACAT2    

Aliases
for ACAT2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Acetyl-CoA Acetyltransferase 21 2     Acetyl-Coenzyme A Acetyltransferase 2 (Acetoacetyl Coenzyme A Thiolase)1
Acetyl-CoA Transferase-Like Protein2 3     Acetoacetyl Coenzyme A Thiolase2
Cytosolic Acetoacetyl-CoA Thiolase2 3     Acetyl-CoA Acetyltransferase, Cytosolic2
EC 2.3.1.93 8     ACTL3
Acetyl-Coenzyme A Acetyltransferase 21     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 GC06P157652


Summaries
for ACAT2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ACAT2:
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)

Gene Wiki entry for ACAT2


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACAT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC06P160153:  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

Proteins
for ACAT2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: THIC_HUMAN, Q9BWD1 (See protein sequence)
Recommended Name: Acetyl-CoA acetyltransferase, cytosolic  
Size: 397 amino acids; 41351 Da
Subunit: Homotetramer
Subcellular location: Cytoplasm
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BWD1

    • 4/6 DME Specific Peptides for ACAT2 (Q9BWD1) (see all 6)
     AGCGQNP  HMGITAEN  FEINEAFA  FDKEIVPV 

    ACAT2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005882.2  
    ENSEMBL proteins: 
     ENSP00000356015   ENSP00000437850  

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    Uscn Proteins for ACAT2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    ACAT2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ACAT2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACAT2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR002155 Thiolase
     IPR020610 Thiolase_AS
     IPR020616 Thiolase_N
     IPR020617 Thiolase_C
     IPR020613 Thiolase_CS

    Graphical View of Domain Structure for InterPro Entry Q9BWD1

    ProtoNet protein and cluster: Q9BWD1

    1 Blocks protein family: IPB002155 Thiolase

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


    Function
    for ACAT2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    hsa-miR-466 hsa-miR-133a hsa-miR-548k hsa-miR-133b
    SwitchGear 3'UTR luciferase reporter plasmid: ACAT2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003985acetyl-CoA C-acetyltransferase activity IDA7911016
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----


    ACAT2 for ontologies           About GeneDecksing



    Pathways & Interactions
    for ACAT2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
    		superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)1.00
    		Terpenoid backbone biosynthesis0.71
    		mevalonate pathway I0.86
    2Branched-chain amino acid catabolism
    		isoleucine degradation I0.41
    		Propanoate metabolism0.07
    		Valine, leucine and isoleucine degradation0.39
    3tryptophan degradation III (eukaryotic)
    		tryptophan degradation III (eukaryotic)1.00
    		glutaryl-CoA degradation0.45
    4Ketone body metabolism
    		Synthesis and degradation of ketone bodies0.56
    		Butanoate metabolism0.17
    5Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/6 BioSystems Pathways for ACAT2 (see all 6) 
        glutaryl-CoA degradation
    isoleucine degradation I
    mevalonate pathway I
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
    superpathway of cholesterol biosynthesis


    5/12         Kegg Pathways  (Kegg details for ACAT2) (see all 12):
        Fatty acid metabolism
    Synthesis and degradation of ketone bodies
    Valine, leucine and isoleucine degradation
    Lysine degradation
    Tryptophan metabolism


    ACAT2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACAT2

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

    5/51 Interacting proteins for ACAT2 (Q9BWD13 ENSP000003560154) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    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): 1 biological process term (GO ID links to tree view):    About this table

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


    ACAT2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ACAT2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACAT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for ACAT2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CI 976Acyl-CoA:cholesterol acyltransferase (ACAT) inhibitor[114289-47-3]
    VULM 1457Acyl-CoA: cholesterol acyltransferase (ACAT) inhibitor[228544-65-8]

    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 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)

    Search CenterWatch for drugs/clinical trials and news about ACAT2 / THIC 

    Transcripts
    for ACAT2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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)


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    Inhib. RNA
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    Additional cDNA sequence: 

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

    24/36 DOTS entries (see all 36):

    DT.99989299  DT.100828792  DT.121326816  DT.100759125  DT.87079575  DT.86852813  DT.100884457  DT.121326761 
    DT.91782029  DT.75133091  DT.100764164  DT.100884461  DT.100884486  DT.91782027  DT.119861  DT.121326756 
    DT.121326882  DT.121326906  DT.91782015  DT.100031509  DT.100031512  DT.102839912  DT.121326956  DT.121327003 

    24/438 AceView cDNA sequences (see all 438):

    AW245620 CR603383 BM904187 BQ680061 BU149746 CR592880 F02646 BM842064 
    BQ212250 BM548938 AL552644 BG698717 CB109550 CR616356 BE731713 BI752511 
    BQ648344 CR617627 BM910010 F04872 BM905050 CD366954 CR590182 BM909863 

    GeneLoc Exon Structure

    5/11 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

    Expression
    for ACAT2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACAT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCAAGCTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ACAT2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ACAT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACAT2

    SOURCE GeneReport for Unigene cluster: Hs.571037
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACAT2: 
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    Orthologs
    for ACAT2 gene

    (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
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ACAT2 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 73(a)
    		 1 ↔ 1
    		 1(212198071-212209069)
    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
    55.47(n)1
    57.88(a)1    		   61F53
    381471  NM_138250.21  NP_612094.21 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria atoB6
    yqeF6
    		 predicted acyltransferase
    		 53(a)
    48(a)
    		 possible ortholog
    1 ↔ 1
    		 Chromosome(2324131-2325315)
    Chromosome(2982433-2983614)


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

    Paralogs
    for ACAT2 gene

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

    ACAT2 for paralogs           About GeneDecksing



    Genomic Variants
    for ACAT2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/336 NCBI SNPs in ACAT2 are shown (see all 336)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs736013321,2
    		C,--157650409(+) ATCTTG/AGAAAG 1 -- us2k12Minor allele frequency- A:0.05WA 120
    rs77554891,2
    		C,F,--157651138(+) GGATGT/AGAGAG 1 -- us2k111Minor allele frequency- A:0.06NS WA CSA NA 906
    rs412924621,2
    		C,F,--157651546(+) GGTCCG/ATCAAC 1 -- us2k17Minor allele frequency- A:0.02NS WA 782
    rs175158751,2
    		C,F,--157651610(+) GTTCCC/TAACAA 1 -- us2k1 ese33Minor allele frequency- T:0.01MN EA 476
    rs412677831,2
    		C,F,--157651613(+) CCCAAC/TAAGTT 1 -- us2k15Minor allele frequency- T:0.09WA CSA NA 244
    rs412583741,2
    		C,F,--157651626(+) TGTAAC/TGGTGG 1 -- us2k112Minor allele frequency- T:0.16NS WA CSA NA 888
    rs557415301,2
    		C,--157652096(+) TTTTTA/TAAAAA 1 -- us2k12Minor allele frequency- T:0.21CSA WA 119
    rs736013461,2
    		C,--157652164(+) TTTCAG/CGCGCT 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs22770721,2
    		C,H,--157652206(-) TGGGCC/TTGCGG 1 -- us2k1 ese37Minor allele frequency- T:0.24NA WA CSA 247
    rs720971861,2
    		C,--157652266(+) ACTTC-/CG    
       CCCCG    CGCCC     		1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACAT2 (160181360 - 160200144 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ACAT2
         1 CNV: 3647
    Human Gene Mutation Database (HGMD): ACAT2

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    Disorders / Diseases
    for ACAT2 gene

    (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.)
    About This Section
    ACAT2 for disorders           About GeneDecksing

    OMIM gene information: 100678    OMIM disorders: --

    19 diseases for ACAT2:    About MalaCards
    beta-ketothiolase deficiency    thiolase deficiency    ketothiolase deficiency    coronary heart disease
    insulin resistance    renal cell carcinoma    down syndrome    hyperlipidemia
    hypercholesterolemia    kidney disease    dementia    lung cancer
    obesity    hypertension    cholesterol    tuberculosis
    carcinoma    hepatitis    mycobacterium tuberculosis

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

    1 Novoseek 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

    Publications
    for ACAT2 gene

    (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)
    About This Section

    PubMed articles for ACAT2 gene, integrated from 9 sources (see all 60):
    (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. (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. (1994)
    3. Acyl-CoA: cholesterol acyltransferase-2 gene polymorphisms and their association with plasma lipids and coronary artery disease risks. (PubMed id 16195894)1, 4 He X....Heng C.K. (2005)
    4. 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. (2004)
    5. The influence of the acyl-CoA:cholesterol acyltransferase-1 gene (-77G-->A) polymorphisms on plasma lipid and apolipoprotein levels in normolipidemic and hyperlipidemic subjects. (PubMed id 15158756)1, 4 Ohta T....Fukuyama S. (2004)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    7. Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients. (PubMed id 14557872)1, 4 McCarthy J.J....Topol E.J. (2003)
    8. Effects of a new single-nucleotide polymorphism in the Acyl-CoA:cholesterol acyltransferase-2 gene on plasma lipids and apolipoproteins in patients with hyperlipidemia. (PubMed id 12621162)1, 4 Katsuren K....Ohta T. (2003)
    9. Transcript encoded on the opposite strand of the human steroid 21- hydroxylase/complement component C4 gene locus. (PubMed id 2475872)1, 3 Morel Y.... Miller W.L. (1989)
    10. Two human ACAT2 mRNA variants produced by alternative splicing and coding for novel isoenzymes. (PubMed id 16331323)1, 9 Yao X.M....Li B.L. (2005)

    External Searches for ACAT2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ACAT2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 39 HGNC: 94 AceView: ACAT2 Ensembl:ENSG00000120437 euGenes: HUgn39
    ECgene: ACAT2 Kegg: 39 H-InvDB: ACAT2

    Other Databases showing ACAT2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACAT2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACAT2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ACAT2 gene

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



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    About This Section

     
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