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... See more...

Aliases for APOC4 Gene

Aliases for APOC4 Gene

  • Apolipoprotein C4 2 3 4 5
  • Apolipoprotein C-IV 2 3 4
  • APO-CIV 3
  • APOC-IV 3
  • Apo-CIV 4
  • ApoC-IV 4
  • APOC4 5

External Ids for APOC4 Gene

Previous GeneCards Identifiers for APOC4 Gene

  • GC19P046090
  • GC19P045836
  • GC19P050115
  • GC19P050137
  • GC19P045445
  • GC19P041875

Summaries for APOC4 Gene

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 C4) is a Protein Coding gene. Diseases associated with APOC4 include Apolipoprotein C-Iii Deficiency. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include lipid transporter activity. An important paralog of this gene is APOC4-APOC2.

UniProtKB/Swiss-Prot Summary for APOC4 Gene

Gene Wiki entry for APOC4 Gene

Additional gene information for APOC4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOC4 Gene

Genomics for APOC4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APOC4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J044943 Promoter/Enhancer 1.2 Ensembl ENCODE 600.7 +1.7 1733 0.6 ZNF512 LEF1 POLR2A JUND MTA2 PKNOX1 MTA1 SP1 ZNF24 DPF2 APOC4 APOC4-APOC2 APOC2
GH19J044942 Promoter 0.8 EPDnew 600.7 +0.0 18 0.1 HNRNPL SP1 YY1 ZBTB33 JUND ZFHX2 ZFP69B RAD21 HNF4A EGR1 APOC4 APOC4-APOC2 APOC2
GH19J044923 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 9.2 -16.3 -16293 4.1 SP1 HNRNPL CREB1 GATAD2A ATF7 REST TFE3 SOX13 IKZF1 NFKBIZ APOC1P1 ZNF180 ZNF45 CLASRP ZNF155 ZNF230 ZNF224 ZNF225 ZNF284 FBXO46
GH19J044723 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 2.6 -217.2 -217194 3.3 HNRNPL GATAD2A CTCF REST TFE3 RFX1 IKZF1 JUND LARP7 ZNF143 ENSG00000266903 ENSG00000252200 LOC107985305 APOC2 IGSF23 APOE APOC4 BCL3 RELB CEACAM16
GH19J044945 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 0.7 +3.7 3713 1.8 HNRNPL GATAD2A REST TFE3 RBFOX2 RXRB SP1 GABPA CEBPA SOX13 APOC2 CLPTM1 ZNF180 ZNF234 ENSG00000269148 ZNF224 CLASRP ZNF155 FBXO46 NECTIN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOC4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOC4

Top Transcription factor binding sites by QIAGEN in the APOC4 gene promoter:
  • CBF(2)
  • E2F
  • E2F-1
  • FOXD3
  • Ik-1
  • NF-Y
  • Pax-5
  • RREB-1
  • Sox5

Genomic Locations for APOC4 Gene

Genomic Locations for APOC4 Gene
chr19:44,942,237-44,945,496
(GRCh38/hg38)
Size:
3,260 bases
Orientation:
Plus strand
chr19:45,445,495-45,452,820
(GRCh37/hg19)
Size:
7,326 bases
Orientation:
Plus strand

Genomic View for APOC4 Gene

Genes around APOC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOC4 Gene

Proteins for APOC4 Gene

  • Protein details for APOC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55056-APOC4_HUMAN
    Recommended name:
    Apolipoprotein C-IV
    Protein Accession:
    P55056
    Secondary Accessions:
    • B3KWY6
    • Q53YY8

    Protein attributes for APOC4 Gene

    Size:
    127 amino acids
    Molecular mass:
    14553 Da
    Quaternary structure:
    No Data Available

neXtProt entry for APOC4 Gene

Post-translational modifications for APOC4 Gene

  • Glycosylation at Asn63
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • APOC4_HUMAN (2021)

Other Protein References for APOC4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for APOC4 Gene

Domains & Families for APOC4 Gene

Gene Families for APOC4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for APOC4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APOC4 Gene

GenScript: Design optimal peptide antigens:
  • Apolipoprotein C-IV (A5YAK2_HUMAN)
  • Apolipoprotein C4 (APOC4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55056

UniProtKB/Swiss-Prot:

APOC4_HUMAN :
  • Belongs to the apolipoprotein C4 family.
Family:
  • Belongs to the apolipoprotein C4 family.
genes like me logo Genes that share domains with APOC4: view

Function for APOC4 Gene

Molecular function for APOC4 Gene

UniProtKB/Swiss-Prot Function:
May participate in lipoprotein metabolism.
GENATLAS Biochemistry:
apolipoprotein C-IV

Phenotypes From GWAS Catalog for APOC4 Gene

Gene Ontology (GO) - Molecular Function for APOC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity TAS 8530039
genes like me logo Genes that share ontologies with APOC4: view
genes like me logo Genes that share phenotypes with APOC4: view

Animal Models for APOC4 Gene

MGI Knock Outs for APOC4:
  • Apoc4 Apoc4<tm1.1(KOMP)Mbp>

Animal Model Products

  • Taconic Biosciences Mouse Models for APOC4

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOC4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for APOC4 Gene

Localization for APOC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOC4 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOC4 gene
Compartment Confidence
extracellular 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for APOC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0034361 very-low-density lipoprotein particle IMP 8827523
GO:0034364 high-density lipoprotein particle IBA,IDA 12700345
genes like me logo Genes that share ontologies with APOC4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APOC4 Gene

Pathways & Interactions for APOC4 Gene

genes like me logo Genes that share pathways with APOC4: view

Gene Ontology (GO) - Biological Process for APOC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 8530039
GO:0006869 lipid transport IEA --
GO:0010890 positive regulation of sequestering of triglyceride IBA,IMP 18809223
GO:0034379 very-low-density lipoprotein particle assembly TAS --
GO:0034447 very-low-density lipoprotein particle clearance TAS --
genes like me logo Genes that share ontologies with APOC4: view

No data available for SIGNOR curated interactions for APOC4 Gene

Drugs & Compounds for APOC4 Gene

No Compound Related Data Available

Transcripts for APOC4 Gene

mRNA/cDNA for APOC4 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOC4

Alternative Splicing Database (ASD) splice patterns (SP) for APOC4 Gene

No ASD Table

Relevant External Links for APOC4 Gene

GeneLoc Exon Structure for
APOC4

Expression for APOC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

Protein differential expression in normal tissues from HIPED for APOC4 Gene

This gene is overexpressed in Serum (38.5), Synovial fluid (22.1), and Plasma (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APOC4 Gene



Protein tissue co-expression partners for APOC4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOC4

SOURCE GeneReport for Unigene cluster for APOC4 Gene:

Hs.731599

mRNA Expression by UniProt/SwissProt for APOC4 Gene:

P55056-APOC4_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for APOC4 Gene

  • Liver(4.8)
  • Lung(4.2)
  • Bone marrow(4)
  • Blood(2.1)
  • Nervous system(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with APOC4: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for APOC4 Gene

Orthologs for APOC4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for APOC4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APOC4 30
  • 97.9 (n)
-- 31
  • 95 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia APOC4 30
  • 76.81 (n)
-- 31
  • 60 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia APOC4 30 31
  • 74.02 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Apoc4 30
  • 73.39 (n)
Mouse
(Mus musculus)
Mammalia Apoc4 30 17 31
  • 70.7 (n)
OneToMany
Species where no ortholog for APOC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for APOC4 Gene

ENSEMBL:
Gene Tree for APOC4 (if available)
TreeFam:
Gene Tree for APOC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOC4: view image

Paralogs for APOC4 Gene

Paralogs for APOC4 Gene

(1) SIMAP similar genes for APOC4 Gene using alignment to 3 proteins:

  • APOC4_HUMAN
  • A5YAK2_HUMAN
  • K7EMC3_HUMAN
genes like me logo Genes that share paralogs with APOC4: view

Variants for APOC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOC4 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
VAR_036540 A breast cancer sample p.Pro75Gln
rs1132899 - p.Leu36Pro
rs12691089 - p.Gly52Asp
rs5167 - p.Leu96Arg
rs5168 - p.Gln126Leu

Additional dbSNP identifiers (rs#s) for APOC4 Gene

Structural Variations from Database of Genomic Variants (DGV) for APOC4 Gene

Variant ID Type Subtype PubMed ID
nsv509747 CNV insertion 20534489

Variation tolerance for APOC4 Gene

Residual Variation Intolerance Score: 75.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.27; 81.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOC4 Gene

Human Gene Mutation Database (HGMD)
APOC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOC4 Gene

Disorders for APOC4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for APOC4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
apolipoprotein c-iii deficiency
  • hyperalphalipoproteinemia 2; halp2
- elite association - COSMIC cancer census association via MalaCards
Search APOC4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APOC4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with APOC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APOC4 Gene

Publications for APOC4 Gene

  1. Identification and characterization of a new human gene (APOC4) in the apolipoprotein E, C-I, and C-II gene locus. (PMID: 8530039) Allan CM … Taylor JM (Genomics 1995) 2 3 4 23
  2. DNA sequence variation in human apolipoprotein C4 gene and its effect on plasma lipid profile. (PMID: 10996355) Kamboh MI … Hamman RF (Atherosclerosis 2000) 3 4 23
  3. Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus. (PMID: 20331378) Mosbruger TL … Thio CL (The Journal of infectious diseases 2010) 3 41
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. (PMID: 20714348) Segrè AV … Altshuler D (PLoS genetics 2010) 3 41

Products for APOC4 Gene

Sources for APOC4 Gene