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

APOC4 Gene

protein-coding   GIFtS: 48
GCID: GC19P045445

Apolipoprotein C-IV

  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hypertriglyceridemia, and coronary heart disease, and among its related super-pathways are Statin Pathway, Pharmacodynamics. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for APOC4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
45,448,753 bp from pter
Size:
3,259 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: APOC4_HUMAN, P55056 (See protein sequence)
Recommended Name: Apolipoprotein C-IV precursor  
Size: 127 amino acids; 14553 Da
Subcellular location: Secreted
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P55056

  • APOC4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    APOC4 Protein Expression
    REFSEQ proteins: NP_001637.1  
    ENSEMBL proteins: 
     ENSP00000468236   ENSP00000466444  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    APOC4 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: P55056

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


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005319lipid transporter activity TAS8530039
         
    APOC4 for ontologies           About GeneDecksing


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

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for APOC4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Statin Pathway, Pharmacodynamics
    Statin Pathway0.73


    1 BioSystems Pathway for APOC4
        Statin Pathway


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for APOC4

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    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

    APOC4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for APOC4

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for APOC4 gene: 
    NM_001646.2  

    Unigene Cluster for APOC4:

    Apolipoprotein C-IV
    Hs.731599  [show with all ESTs]
    Unigene Representative Sequence: NR_037932
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592954 ENST00000591600
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    BC020723.1 EF371378.1 NR_037932.1 

    4 DOTS entries:

    DT.448902  DT.310984  DT.95096683  DT.95096682 

    24/305 AceView cDNA sequences (see all 305):

    AV659338 AV653091 AV659315 AV659501 AV655763 CK300640 AA454580 H58187 
    BX956714 BU149562 NM_000483 T57453 AV681649 X00568 N92119 AV681730 
    AV645903 AF113884 AA311868 AV654399 R28903 AI333372 AI809022 AV645460 

    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™, 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

    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


    See APOC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APOC4

    SOURCE GeneReport for Unigene cluster: Hs.731599

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

        SABiosciences Custom PCR Arrays for APOC4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOC4

    (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 common ancestor of human and mouse.

    Orthologs for APOC4 gene from 1/5 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 71.24(n)1
    58.06(a)1
      7 (9.94 cM)5
    114251  NM_007385.21  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)
    About This Section
    Paralogs for APOC4 gene
    APOC4-APOC22  
    1 SIMAP similar gene for APOC4 using alignment to 3 protein entries:     APOC4_HUMAN (see all proteins):
    APOC2

    APOC4 for paralogs           About GeneDecksing



    (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) 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

    5 SNPs in APOC4 are shown    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--------
    VAR_0120684
    ----see VAR_0120682 L R mis40--------
    VAR_0120694
    ----see VAR_0120692 Q L mis40--------
    VAR_0120824
    ----see VAR_0120822 G D mis40--------
    VAR_0120814
    ----see VAR_0120812 L P mis40--------

    HapMap Linkage Disequilibrium report for APOC4 (45445495 - 45448753 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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600745    OMIM disorders: --

    6 diseases for APOC4:    About MalaCards
    hypertriglyceridemia    coronary heart disease    hepatitis c    alcoholism
    hepatocellular carcinoma    hepatitis


    APOC4 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for APOC4 gene, integrated from 9 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. (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. (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. (2010)
    4. Evaluating the discriminative power of multi-trait ge netic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (2010)
    5. Common genetic variation in multiple metabolic pathwa ys influences susceptibility to low HDL-cholesterol and coronary heart disease. (PubMed id 20855565)1, 4 Peloso G.M....Brousseau M.E. (2010)
    6. Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (2010)
    7. Large-scale candidate gene analysis of spontaneous cl earance of hepatitis C virus. (PubMed id 20331378)1, 4 Mosbruger T.L....Thio C.L. (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. (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. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 346 HGNC: 611 AceView: APOC2andAPOC4 Ensembl:ENSG00000267467 euGenes: HUgn346
    ECgene: APOC4 H-InvDB: APOC4

    (According to HUGE)
    About This Section
      --

    (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 APOC4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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