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    APOC2 apolipoprotein C2 [ Homo sapiens (human) ]

    Gene ID: 344, updated on 11-Apr-2024

    Summary

    Official Symbol
    APOC2provided by HGNC
    Official Full Name
    apolipoprotein C2provided by HGNC
    Primary source
    HGNC:HGNC:609
    See related
    Ensembl:ENSG00000234906 MIM:608083; AllianceGenome:HGNC:609
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APO-CII; APOC-II
    Summary
    This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. 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 upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
    Expression
    Restricted expression toward liver (RPKM 1243.9) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APOC2 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44946051..44949565)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47770875..47774393)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45449308..45452822)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45430599-45431491 Neighboring gene apolipoprotein C1 pseudogene 1 Neighboring gene APOC4-APOC2 readthrough (NMD candidate) Neighboring gene apolipoprotein C4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10745 Neighboring gene MPRA-validated peak3513 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14775 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45464990-45465143 Neighboring gene CLPTM1 regulator of GABA type A receptor forward trafficking Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10747 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10748 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45514891-45515392 Neighboring gene RELB proto-oncogene, NF-kB subunit Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10749 Neighboring gene Sharpr-MPRA regulatory region 3318

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Familial apolipoprotein C-II deficiency
    MedGen: C1720779 OMIM: 207750 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough APOC4-APOC2

    Readthrough gene: APOC4-APOC2, Included gene: APOC4

    Clone Names

    • MGC75082

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipoprotein lipase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular function activator activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables phospholipase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phospholipase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phospholipase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol homeostasis IC
    Inferred by Curator
    more info
    PubMed 
    involved_in chylomicron remnant clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chylomicron remodeling IC
    Inferred by Curator
    more info
    PubMed 
    involved_in high-density lipoprotein particle clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of receptor-mediated endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of very-low-density lipoprotein particle clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phospholipid efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of fatty acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of lipoprotein lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of lipoprotein lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of phospholipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phospholipid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of phospholipid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of triglyceride catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of very-low-density lipoprotein particle remodeling IC
    Inferred by Curator
    more info
    PubMed 
    involved_in reverse cholesterol transport IC
    Inferred by Curator
    more info
    PubMed 
    involved_in triglyceride homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in triglyceride-rich lipoprotein particle remodeling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in very-low-density lipoprotein particle remodeling TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of chylomicron IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of chylomicron IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of intermediate-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of spherical high-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of very-low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008837.1 RefSeqGene

      Range
      5066..8580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000483.5NP_000474.2  apolipoprotein C-II precursor

      See identical proteins and their annotated locations for NP_000474.2

      Status: REVIEWED

      Source sequence(s)
      AA883870, BU596546
      Consensus CDS
      CCDS12650.1
      UniProtKB/Swiss-Prot
      C0JYY4, P02655, Q9BS39, Q9UDE3, Q9UNK3
      UniProtKB/TrEMBL
      A0A024R0T9, A0A0S2Z3C2
      Related
      ENSP00000252490.5, ENST00000252490.7
      Conserved Domains (1) summary
      pfam05355
      Location:24100
      Apo-CII; Apolipoprotein C-II

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      44946051..44949565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47770875..47774393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)