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APOC2 apolipoprotein C2 [ Homo sapiens (human) ]

Gene ID: 344, updated on 8-Dec-2018

Summary

Official Symbol
APOC2provided by HGNC
Official Full Name
apolipoprotein C2provided by HGNC
Primary source
HGNC:HGNC:609
See related
Ensembl:ENSG00000234906 MIM:608083
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

Genomic context

See APOC2 in Genome Data Viewer
Location:
19q13.32
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (44945982..44949565)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45449239..45452822)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene apolipoprotein C1 pseudogene 1 Neighboring gene APOC4-APOC2 readthrough (NMD candidate) Neighboring gene apolipoprotein C4 Neighboring gene CLPTM1, transmembrane protein Neighboring gene RELB proto-oncogene, NF-kB subunit

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Apolipoprotein C2 deficiency
MedGen: C1720779 OMIM: 207750 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
    Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
  • HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
    HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
    Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
    Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Statin Pathway, organism-specific biosystem (from WikiPathways)
    Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough APOC4-APOC2

Readthrough gene: APOC4-APOC2, Included gene: APOC4

Homology

Clone Names

  • MGC75082

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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
    4997..8580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000483.4NP_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
    P02655
    UniProtKB/TrEMBL
    A0A024R0T9
    Related
    ENSP00000252490.4, ENST00000252490.5
    Conserved Domains (1) summary
    pfam05355
    Location:2499
    Apo-CII; Apolipoprotein C-II

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    44945982..44949565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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