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APOC4 Gene

protein-coding   GIFtS: 48
GCID: GC19P045445

Apolipoprotein C-IV

  See APOC4-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-IV1 2
Apolipoprotein C42 3
APO-CIV2
APOC-IV2
Apo-CIV3
ApoC-IV3

External Ids:    HGNC: 6111   Entrez Gene: 3462   Ensembl: ENSG000002674677   OMIM: 6007455   UniProtKB: P550563   

Export aliases for APOC4 gene to outside databases

Previous GC identifers: GC19P046090 GC19P045836 GC19P050115 GC19P050137 GC19P041875


(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 APOC4 Gene:
This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to
play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be
associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein
genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the
neighboring downstream apolipoprotein C-II (APOC2) gene. (provided by RefSeq, Mar 2011)

GeneCards Summary for APOC4 Gene:
APOC4 (apolipoprotein C-IV) is a protein-coding gene. Diseases associated with APOC4 include artery disease, and coronary artery disease. GO annotations related to this gene include lipid transporter activity. An important paralog of this gene is APOC4-APOC2.

UniProtKB/Swiss-Prot: APOC4_HUMAN, P55056
Function: May participate in lipoprotein metabolism

Gene Wiki entry for APOC4 (Apolipoprotein C4) 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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Regulatory elements:
   Regulatory transcription factor binding sites in the APOC4 gene promoter:
         Sox5   Pax-5   RREB-1   FOXD3   E2F   E2F-1   NF-Y   CBF(2)   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPOC4 promoter sequence
   Search Chromatin IP Primers for APOC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APOC4


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.2

APOC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOC4 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P045445:  view genomic region     (about GC identifiers)

Start:
45,445,495 bp from pter      End:
45,452,820 bp from pter
Size:
7,326 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., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: APOC4_HUMAN, P55056 (See protein sequence)
Recommended Name: Apolipoprotein C-IV precursor  
Size: 127 amino acids; 14553 Da
Secondary accessions: B3KWY6 Q53YY8

Explore the universe of human proteins at neXtProt for APOC4: NX_P55056

Explore proteomics data for APOC4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn63

  • See APOC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001637.1  
    ENSEMBL proteins: 
     ENSP00000468236   ENSP00000466444   ENSP00000406381  

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

    1 InterPro protein domain:
     IPR028120 APOC4

    Graphical View of Domain Structure for InterPro Entry P55056

    ProtoNet protein and cluster: P55056

    UniProtKB/Swiss-Prot: APOC4_HUMAN, P55056
    Similarity: Belongs to the apolipoprotein C4 family


    Find genes that share domains with APOC4           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: APOC4_HUMAN, P55056
    Function: May participate in lipoprotein metabolism

         Genatlas biochemistry entry for APOC4:
    apolipoprotein C-IV

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005319lipid transporter activity TAS8530039
         
    Find genes that share ontologies with APOC4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for APOC4:
     Actin fiber cells 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for APOC4

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APOC4_HUMAN, P55056: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034361very-low-density lipoprotein particle IMP8827523
    GO:0034364high-density lipoprotein particle IDA12700345

    Find genes that share ontologies with APOC4           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 APOC4 About    
    See pathways by source

    SuperPathContained pathways About
    1Statin Pathway
    Statin Pathway0.73


    1 BioSystems Pathway for APOC4
        Statin Pathway


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    Interactions:

        Search GeneGlobe Interaction Network for APOC4

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS8530039
    GO:0010890positive regulation of sequestering of triglyceride IMP18809223
    GO:0070328triglyceride homeostasis IMP8827523

    Find genes that share ontologies with APOC4           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 Tocris compounds for APOC4



    (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,
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    REFSEQ mRNAs for APOC4 gene: 
    NM_001646.2  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592954 ENST00000591600 ENST00000419266(uc002pah.3)
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    Selected AceView cDNA sequences (see all 305):

    AV681649 AV653106 AV661456 AV696790 H58187 AV681730 AV653091 AV659315 
    AI809022 AA311868 AV655381 NM_001646 X00568 AI492155 AV655763 H66451 
    R28903 BU149562 T61645 CK300640 AV659338 AF113884 AA454580 AV655400 

    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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    APOC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGACCTACT
    APOC4 Expression
    About this image

    APOC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APOC4 Protein Expression

    UniProtKB/Swiss-Prot: APOC4_HUMAN, P55056
    Tissue specificity: Expressed by the liver and secreted in plasma

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    In Situ
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    (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 APOC4 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apoc41 , 5 apolipoprotein C-IV1, 5 70.7(n)1
    58.06(a)1
      7 (9.94 cM)5
    114251  NM_007385.31  NP_031411.11 
     196780945 


    ENSEMBL Gene Tree for APOC4 (if available)
    TreeFam Gene Tree for APOC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APOC4 gene
    APOC4-APOC22  
    1 SIMAP similar gene for APOC4 using alignment to 3 protein entries:     APOC4_HUMAN (see all proteins):
    APOC4-APOC2

    Find genes that share paralogs with APOC4           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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    5 SNPs for APOC4    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365404
    A breast cancer sample4--see VAR_0365402 P Q mis40--------
    rs51671,2,4
    ----see VAR_0120682 mis40--------
    rs51681,2,4
    ----see VAR_0120692 mis40--------
    VAR_0120824
    ----see VAR_0120822 G D mis40--------
    rs11328991,2,4
    ----see VAR_0120812 mis40--------

    HapMap Linkage Disequilibrium report for APOC4 (45445495 - 45452820 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for APOC4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509747CNV Insertion20534489
    nsv912134CNV Loss21882294
    nsv912133CNV Loss21882294
    dgv3948n71CNV Loss21882294
    nsv912140CNV Gain21882294

    Human Gene Mutation Database (HGMD): APOC4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APOC4
    DNA2.0 Custom Variant and Variant Library Synthesis for APOC4

    (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: 600745    OMIM disorders: --

    3 diseases for APOC4:    
    About MalaCards
    artery disease    coronary artery disease    breast and colorectal cancer


    Find genes that share disorders with APOC4           About GenesLikeMe

    Genetic Association Database (GAD): APOC4
    Human Genome Epidemiology (HuGE) Navigator: APOC4 (18 documents)

    Export disorders for APOC4 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 APOC4 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with APOC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a new human gene (APOC4) in the apolipoprotein E, C-I, and C-II gene locus. (PubMed id 8530039)1, 2, 3, 9 Allan C.M.... Taylor J.M. (Genomics 1995)
    2. DNA sequence variation in human apolipoprotein C4 gene and its effect on plasma lipid profile. (PubMed id 10996355)1, 2, 9 Kamboh M.I.... Hamman R.F. (Atherosclerosis 2000)
    3. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (PubMed id 20864672)1, 4 Waterworth D.M....Sandhu M.S. (Arterioscler. Thromb. Vasc. Biol. 2010)
    4. 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)
    5. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. (PubMed id 20855565)1, 4 Peloso G.M....Brousseau M.E. (J. Lipid Res. 2010)
    6. 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)
    7. Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus. (PubMed id 20331378)1, 4 Mosbruger T.L....Thio C.L. (J. Infect. Dis. 2010)
    8. APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men. (PubMed id 20498921)1, 4 Ken-Dror G....Drenos F. (Mol. Med. 2010)
    9. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. (PubMed id 20714348)1, 4 SegrA" A.V....Altshuler D. (PLoS Genet. 2010)
    10. 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)

    (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: 346 HGNC: 611 AceView: APOC2andAPOC4 Ensembl:ENSG00000267467 euGenes: HUgn346
    ECgene: APOC4 H-InvDB: APOC4

    (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 APOC4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APOC4 gene:
    Search GeneIP for patents involving APOC4

    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, eBioscience, antibodies-online, 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
    Advanced Cell Diagnostics, Animal models from genOway)
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     Block miRNA regulation of human, mouse, rat APOC4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing APOC4
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     Custom PCR Arrays for APOC4 Search Chromatin IP Primers for APOC4
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     Search for Antibodies & Assays

     Search Tocris compounds for APOC4
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
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     Browse ESI BIO Cell Lines and PureStem Progenitors for APOC4
     Gene Synthesis
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOC4
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APOC4
     Browse compounds at ApexBio
     Search Addgene for plasmids for APOC4
      Search eBioscience for proteins for APOC4
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     genOway: Develop your customized and physiologically relevant rodent model for APOC4
     antibodies-online antibodies for APOC4 (21 products)
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      Search antibodies-online for peptides for APOC4
     antibodies-online proteins for APOC4 (6 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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