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APOC2 apolipoprotein C2 [ Homo sapiens (human) ]

Gene ID: 344, updated on 4-Jan-2025

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
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Genomic context

See APOC2 in Genome Data Viewer
Location:
19q13.32
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44946051..44949565)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47770875..47774393)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Readthrough APOC4-APOC2

Readthrough gene: APOC4-APOC2, Included gene: APOC4

Clone Names

  • MGC75082

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding PubMed 
enables lipase inhibitor activity PubMed 
enables lipid binding PubMed 
enables lipoprotein lipase activator activity PubMed 
enables molecular function activator activity PubMed 
enables phospholipase activator activity  
enables phospholipase activator activity PubMed 
enables phospholipase binding  
enables phospholipase binding PubMed 
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in cholesterol efflux PubMed 
involved_in cholesterol homeostasis PubMed 
involved_in chylomicron remnant clearance  
involved_in chylomicron remnant clearance PubMed 
involved_in chylomicron remodeling PubMed 
involved_in high-density lipoprotein particle clearance  
involved_in high-density lipoprotein particle clearance PubMed 
involved_in lipid catabolic process  
involved_in lipoprotein catabolic process  
involved_in negative regulation of cholesterol transport PubMed 
involved_in negative regulation of lipid metabolic process PubMed 
involved_in negative regulation of receptor-mediated endocytosis PubMed 
involved_in negative regulation of very-low-density lipoprotein particle clearance PubMed 
involved_in phospholipid efflux PubMed 
involved_in positive regulation of fatty acid biosynthetic process PubMed 
involved_in positive regulation of lipoprotein lipase activity PubMed 
involved_in positive regulation of phospholipase activity PubMed 
involved_in positive regulation of phospholipid catabolic process PubMed 
involved_in positive regulation of triglyceride catabolic process PubMed 
involved_in positive regulation of very-low-density lipoprotein particle remodeling PubMed 
involved_in reverse cholesterol transport PubMed 
involved_in triglyceride homeostasis PubMed 
involved_in triglyceride-rich lipoprotein particle remodeling PubMed 
involved_in very-low-density lipoprotein particle remodeling PubMed 
Component Evidence Code Pubs
part_of chylomicron  
part_of chylomicron PubMed 
located_in early endosome  
located_in extracellular region PubMed 
located_in extracellular region  
located_in extracellular space PubMed 
part_of intermediate-density lipoprotein particle  
part_of intermediate-density lipoprotein particle PubMed 
part_of low-density lipoprotein particle  
part_of low-density lipoprotein particle PubMed 
part_of spherical high-density lipoprotein particle  
part_of spherical high-density lipoprotein particle PubMed 
part_of very-low-density lipoprotein particle  
part_of very-low-density lipoprotein particle PubMed 

NCBI Reference Sequences (RefSeq)

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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_2024_08

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)
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