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APOC3 Gene

protein-coding   GIFtS: 60
GCID: GC11P116700

Apolipoprotein C-III

  See 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
Apolipoprotein C-III1 2     apo-CIII2
Apolipoprotein C32 3     apoC-III2
HALP22 5     Apo-CIII3
APOCIII2     ApoC-III3

External Ids:    HGNC: 6101   Entrez Gene: 3452   Ensembl: ENSG000001102457   OMIM: 1077205   UniProtKB: P026563   

Export aliases for APOC3 gene to outside databases

Previous GC identifers: GC11P119053 GC11P118212 GC11P116734 GC11P116238 GC11P116205 GC11P112632


(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 APOC3 Gene:
Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and
hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4
genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same
strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the
development of hypertriglyceridemia. (provided by RefSeq, Jul 2008)

GeneCards Summary for APOC3 Gene:
APOC3 (apolipoprotein C-III) is a protein-coding gene. Diseases associated with APOC3 include hyperalphalipoproteinemia 2, and hyperalphalipoproteinemia. GO annotations related to this gene include enzyme regulator activity and phospholipid binding.

UniProtKB/Swiss-Prot: APOC3_HUMAN, P02656
Function: Inhibits lipoprotein lipase and hepatic lipase and decreases the uptake of lymph chylomicrons by hepatic
cells. This suggests that it delays the catabolism of triglyceride-rich particles

Gene Wiki entry for APOC3 (Apolipoprotein C3) 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_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the APOC3 gene promoter:
         COUP-TF1   PPAR-gamma1   COUP-TF   COUP   PPAR-gamma2   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): APOC3 promoter sequence
   Search Chromatin IP Primers for APOC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APOC3


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

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

APOC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOC3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P116700:  view genomic region     (about GC identifiers)

Start:
116,700,422 bp from pter      End:
116,703,788 bp from pter
Size:
3,367 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: APOC3_HUMAN, P02656 (See protein sequence)
Recommended Name: Apolipoprotein C-III precursor  
Size: 99 amino acids; 10852 Da
1 PDB 3D structure from and Proteopedia for APOC3:
2JQ3 (3D)    
Secondary accessions: Q08E83 Q6Q786

Explore the universe of human proteins at neXtProt for APOC3: NX_P02656

Explore proteomics data for APOC3 at MOPED

Post-translational modifications: 

  • The most abundant glycoforms are characterized by an O-linked disaccharide galactose linked to
    N-acetylgalactosamine (Gal-GalNAc), further modified with up to 3 sialic acid residues. Less abundant glycoforms
    are characterized by more complex and fucosylated glycan moieties. O-glycosylated on Thr-94 with a core 1 or
    possibly core 8 glycan1
  • Glycosylation2 at Thr94
  • Modification sites at PhosphoSitePlus

  • See APOC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000031.1  
    ENSEMBL proteins: 
     ENSP00000410614   ENSP00000227667   ENSP00000364494  
    Reactome Protein details: P02656

    APOC3 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant APOC3 Protein
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    OriGene Purified Protein for APOC3
    OriGene Protein Over-expression Lysate for APOC3
    OriGene MassSpec for APOC3
    OriGene Custom Protein Services for APOC3
    GenScript Custom Purified and Recombinant Proteins Services for APOC3
    Novus Biologicals APOC3 Proteins
    Novus Biologicals APOC3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APOC3

    APOC3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of APOC3
    Browse R&D Systems for Antibodies
    OriGene Antibodies for APOC3
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    Novus Biologicals APOC3 Antibodies
    Abcam antibodies for APOC3
    Cloud-Clone Corp. Antibodies for APOC3
    ThermoFisher Antibodies for APOC3
    LSBio Antibodies in human, mouse, rat for APOC3

    APOC3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for APOC3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for APOC3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APOC3
    Cloud-Clone Corp. CLIAs for APOC3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    APOLIPO: Apolipoproteins

    1 InterPro protein domain:
     IPR008403 Apo-CIII

    Graphical View of Domain Structure for InterPro Entry P02656

    ProtoNet protein and cluster: P02656

    1 Blocks protein domain: IPB008403 Apolipoprotein CIII

    UniProtKB/Swiss-Prot: APOC3_HUMAN, P02656
    Similarity: Belongs to the apolipoprotein C3 family


    APOC3 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APOC3_HUMAN, P02656
    Function: Inhibits lipoprotein lipase and hepatic lipase and decreases the uptake of lymph chylomicrons by hepatic
    cells. This suggests that it delays the catabolism of triglyceride-rich particles

         Genatlas biochemistry entry for APOC3:
    apolipoprotein C-III,major component of VLDL,associated with isolated low high density lipoprotein cholesterol

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005543phospholipid binding IDA11060345
    GO:0008289lipid binding ----
    GO:0015485cholesterol binding IC11162594
    GO:0030234enzyme regulator activity IDA11060345
    GO:0055102lipase inhibitor activity IDA15576844
         
    APOC3 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Apoc3):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  no phenotypic analysis  normal 

    APOC3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for APOC3: Apoc3tm1Lap Apoc3tm1Unc Apoa1/Apoc3/Apoa4Apoa1/Apoc3/tm1Hmez

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APOC3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for APOC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APOC3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APOC3

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat APOC3 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate APOC3:
    hsa-miR-30b* hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidAPOC3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for APOC3
    Predesigned siRNA for gene silencing in human, mouse, rat APOC3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for APOC3

    Clone
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    OriGene clones in human, mouse for APOC3 (see all 7)
    OriGene ORF clones in mouse, rat for APOC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: APOC3 (NM_000040)
    Sino Biological Human cDNA Clone for APOC3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APOC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APOC3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for APOC3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOC3


    (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
    APOC3_HUMAN, P02656: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endosome4
    nucleus2
    peroxisome2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA11060345
    GO:0005769early endosome TAS--
    GO:0034361very-low-density lipoprotein particle IDA16935699
    GO:0034363intermediate-density lipoprotein particle IDA17336988

    APOC3 for ontologies           About GeneDecksing


    (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 APOC3 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Statin Pathway
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    2Lipoprotein metabolism
    Lipoprotein metabolism0.59
    Chylomicron-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    HDL-mediated lipid transport0.00
    3Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5Signaling by GPCR
    Signal Transduction0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for APOC3
        Statin Pathway


    3 Reactome Pathways for APOC3
        Retinoid metabolism and transport
    HDL-mediated lipid transport
    Chylomicron-mediated lipid transport

    1 PharmGKB Pathway for APOC3
        Statin Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for APOC3):
        PPAR signaling pathway


    APOC3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APOC3: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APOC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for APOC3 (P026563 ENSP000002276674) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    APOA1P026473, ENSP000002368504I2D: score=1 STRING: ENSP00000236850
    APOA2ENSP000003569694STRING: ENSP00000356969
    APOA4ENSP000003504254STRING: ENSP00000350425
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006641triglyceride metabolic process IMP17142127
    GO:0006642triglyceride mobilization IEA--
    GO:0006869lipid transport ----
    GO:0006954inflammatory response IEA--

    APOC3 for ontologies           About GeneDecksing



    (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 APOC3

    Selected Novoseek inferred chemical compound relationships for APOC3 gene (see all 52)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sele 78.1 3 11341749 (1), 11714857 (1), 15076187 (1)
    cholesterol 76.5 160 17589176 (3), 9062353 (2), 9254056 (2), 10884292 (2) (see all 83)
    lipid 73.8 106 10924113 (4), 19622837 (4), 15649902 (3), 16495512 (2) (see all 61)
    mspi 69.2 21 17853951 (2), 9062353 (1), 15585206 (1), 15910632 (1) (see all 13)
    fenofibrate 62.4 9 8847480 (2), 9519345 (1), 9888873 (1), 10494028 (1) (see all 6)
    cholesterol ester 61.4 6 16343038 (1), 15472476 (1), 8376576 (1), 11284423 (1)
    fenofibric acid 56.6 2 7860752 (1), 11731332 (1)
    gemfibrozil 50 8 8824106 (2), 8847480 (2), 9069450 (1), 10494028 (1)
    triacylglycerol 49.7 15 19622837 (4), 19287187 (2), 11171287 (1), 17243549 (1) (see all 9)
    xbai 49.2 11 9254071 (1), 1978683 (1), 9571626 (1), 1678604 (1)

    1 PharmGKB related drug/compound annotation for APOC3 gene    About this table
    Drug/compound PharmGKB Annotation
    ritonavirCA  



    APOC3 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for APOC3 gene: 
    NM_000040.1  

    Unigene Cluster for APOC3:

    Apolipoprotein C-III
    Hs.73849  [show with all ESTs]
    Unigene Representative Sequence: BI521580
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000433777 ENST00000227667(uc001ppt.1) ENST00000375345 ENST00000470144

    miRNA
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    Block miRNA regulation of human, mouse, rat APOC3 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate APOC3:
    hsa-miR-30b* hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidAPOC3 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat APOC3
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: APOC3 (NM_000040)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APOC3
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APOC3
      QuantiTect SYBR Green Assays in human, mouse, rat APOC3
      QuantiFast Probe-based Assays in human, mouse, rat APOC3

    Additional mRNA sequence: 

    BC027977.1 BC121081.1 BC134419.1 M28613.1 M28614.1 V01513.1 X00567.1 X01388.1 

    5 DOTS entries:

    DT.448198  DT.92430743  DT.100776403  DT.92430741  DT.118212 

    Selected AceView cDNA sequences (see all 79):

    AA340472 AV653065 NM_000040 AV646175 V01513 CR605747 M28613 T48409 
    T61186 AV647240 BX406767 AV654429 BE465246 AV654763 T50765 R96421 
    AV647844 H71142 H73199 X00567 CD607223 AI373881 BC027977 R99316 

    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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    APOC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGCCTCCC
    APOC3 Expression
    About this image


    APOC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Vascular endothelial growth factor-induced embryoid bodies
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     Lung (Respiratory System)
    APOC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APOC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.73849

    UniProtKB/Swiss-Prot: APOC3_HUMAN, P02656
    Tissue specificity: Constitutes 50% of the protein fraction of VLDL and 2% of that of HDL. Synthesized
    predominantly in liver and to a lesser degree in intestine

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APOC3: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              PPAR Targets in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for APOC3
    OriGene qSTAR qPCR primer pairs in human, mouse for APOC3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APOC3
    QuantiTect SYBR Green Assays in human, mouse, rat APOC3
    QuantiFast Probe-based Assays in human, mouse, rat APOC3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOC3

    (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 human and mouse.

    Orthologs for APOC3 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apoc35 apolipoprotein C-III   --   9 (25.36 cM) 46232933 


    ENSEMBL Gene Tree for APOC3 (if available)
    TreeFam Gene Tree for APOC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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      --

    (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 APOC3 (see all 195)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0006434
    Hyperalphalipoproteinemia 2 (HALP2)4--see VAR_0006432 K E mis40--------
    rs763532031,2
    Cpathogenic1116565131(+) CTGCCC/TGTAAG 2 R * stg10--------
    rs1219183821,2
    Cpathogenic1116567315(+) CCGTTA/GAGGAC 2 K E mis10--------
    rs71015281,2
    C,F,A--116562440(+) AAGCCG/ATCTGG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1380998801,2
    --116562442(+) GCCGTC/TTGGTA 1 -- us2k10--------
    rs124206071,2
    C,F,H--116562560(+) TTAACA/GTCTAC 1 -- us2k1 tfbs31Minor allele frequency- G:0.00NA 2
    rs678952141,2
    C--116562626(+) TCTCT-/CT/TC 
            
    TTTTT
    1 -- us2k11NA 2
    rs1495313281,2
    --116562693(+) TGGTGA/CGATCT 1 -- us2k10--------
    rs27277881,2
    C,F,A--116562740(-) ggcacG/Tagaat 1 -- us2k17Minor allele frequency- T:0.25NS NA WA CSA 51
    rs1486626851,2
    --116562745(+) CGTGCC/TTCAGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for APOC3 (116700422 - 116703788 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for APOC3: --
    Human Gene Mutation Database (HGMD): APOC3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APOC3
    DNA2.0 Custom Variant and Variant Library Synthesis for APOC3

    (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: 107720   
    OMIM disorders: 614028  
    UniProtKB/Swiss-Prot: APOC3_HUMAN, P02656
  • Hyperalphalipoproteinemia 2 (HALP2) [MIM:614028]: A condition characterized by high levels of high
    density lipoprotein (HDL) and increased HDL cholesterol levels. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for APOC3 (see all 77):    
    About MalaCards
    hyperalphalipoproteinemia 2    hyperalphalipoproteinemia    familial combined hyperlipidemia    familial hypertriglyceridemia
    congenital disorder of glycosylation type ii    chronic kidney failure    hypertriglyceridemia    carotid intimal medial thickness
    hypoalphalipoproteinemia    coronary heart disease    uremia    lipoprotein lipase deficiency
    familial hyperlipidemia    angina pectoris    coronary artery disease    familial hypercholesterolemia
    tangier disease    hypercholesterolemia    cutis laxa    congenital disorder of glycosylation, type it

    7 diseases from the University of Copenhagen DISEASES database for APOC3:
    Coronary heart disease     Atherosclerosis     Familial hyperlipidemia     Diabetes mellitus
    Familial hypertriglyceridemia     Cutis laxa     Tangier disease

    APOC3 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for APOC3 gene (see all 36)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertriglyceridemia 86.5 79 20368524 (5), 8675624 (4), 18201179 (3), 17919884 (3) (see all 45)
    hyperlipidemia familial combined 74.6 4 11181747 (1), 14569462 (1), 11583715 (1), 10357835 (1)
    dyslipidemia 72.6 24 18663085 (2), 18240956 (2), 12818412 (2), 16298371 (2) (see all 16)
    hypertriglyceridemias familial 64.3 2 10064743 (1), 8076943 (1)
    coronary heart disease 60.3 17 11483625 (2), 12818412 (2), 11500189 (1), 19900229 (1) (see all 12)
    atherosclerosis 58.5 16 19262004 (3), 8994037 (1), 9519342 (1), 10884292 (1) (see all 12)
    coronary artery disease 55.7 25 14563827 (2), 12235176 (2), 20002542 (2), 16682041 (1) (see all 15)
    lipid disorders 53.6 3 18240956 (1), 15809899 (1), 1386457 (1)
    congenital disorders 51.7 4 14578315 (1), 16037491 (1), 17170056 (1)
    hyperalphalipoproteinemia 50.7 2 8462178 (1), 2022742 (1)

    Genatlas disease: APOC3
    hyperalphalipoproteinemia with an APOC-III variant

    Genetic Association Database (GAD): APOC3
    Human Genome Epidemiology (HuGE) Navigator: APOC3 (195 documents)

    Export disorders for APOC3 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 APOC3 gene, integrated from 10 sources (see all 700):
    (articles sorted by number of sources associating them with APOC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Apolipoprotein C-III protein concentrations and gene polymorphisms in type 1 diabetes: associations with lipoprotein subclasses. (PubMed id 15375785)1, 4, 9 Klein R.L....Garvey W.T. (Metab. Clin. Exp. 2004)
    2. Apolipoprotein C-III protein concentrations and gene polymorphisms in Type 1 diabetes: associations with microvascular disease complications in the DCCT/EDIC cohort. (PubMed id 15642486)1, 4, 9 Klein R.L....Garvey W.T. (J. Diabetes Complicat. 2005)
    3. Apolipoprotein C-III, n-3 polyunsaturated fatty acids, and &quot;insulin-resistant&quot; T-455C APOC3 gene polymorphism in heart disease patients: example of gene-diet interaction. (PubMed id 15576429)1, 4, 9 Olivieri O....Corrocher R. (Clin. Chem. 2005)
    4. Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease. (PubMed id 14563827)1, 4, 9 Olivieri O....Corrocher R. (J. Lipid Res. 2003)
    5. Apolipoprotein C-III(Lys-58-->Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. (PubMed id 2022742)1, 2, 9 von Eckardstein A....Assmann G. (J. Clin. Invest. 1991)
    6. Association of APOA5 and APOC3 gene polymorphisms with plasma apolipoprotein A5 level in patients with metabolic syndrome. (PubMed id 19932084)1, 4, 9 Niculescu L.S....Sima A.V. (Biochem. Biophys. Res. Commun. 2010)
    7. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. (PubMed id 19074352)1, 4, 9 Pollin T.I....Shuldiner A.R. (Science 2008)
    8. The -1131 T&gt;C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study. (PubMed id 16682041)1, 4, 9 Martinelli N....Olivieri O. (Atherosclerosis 2007)
    9. ApoC-III gene polymorphisms and risk of coronary artery disease. (PubMed id 12235176)1, 4, 9 Olivieri O....Corrocher R. (J. Lipid Res. 2002)
    10. An interaction between apo C-III variants and protease inhibitors contributes to high triglyceride/low HDL levels in treated HIV patients. (PubMed id 11740190)1, 4, 9 Fauvel J....Perret B. (AIDS 2001)

    (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: 345 HGNC: 610 AceView: APOC3 Ensembl:ENSG00000110245 euGenes: HUgn345
    ECgene: APOC3 Kegg: 345 H-InvDB: APOC3

    (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 APOC3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/508211/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APOC3 gene:
    Search GeneIP for patents involving APOC3

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



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