APOC2 apolipoprotein C-II [Homo sapiens] - Gene

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Summary

Official Symbol: APOC2provided by HGNC
Official Full Name: apolipoprotein C-IIprovided by HGNC
Primary source: HGNC:609
See related: Ensembl:ENSG00000234906; HPRD:07457; 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; MGC75082
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]

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Genomic context

Location :: 19q13.2

Sequence :: Chromosome: 19; NC_000019.9 (45449239..45452822)

See APOC2 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Activation of apoC-II fibrils by submicellar lipid (NBD-lyso-12-phosphocholine) is catalytic with release of monomer- and tetramer-bound lipid accompanying fibril elongation and growth.
Title: NBD-labeled phospholipid accelerates apolipoprotein C-II amyloid fibril formation but is not incorporated into mature fibrils.
variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits
Title: Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
Physiological shear flow conditions and conditions experienced during apoC-II manufacturing exert significant effects on apoC-II conformation, leading to protein misfolding, aggregation, and amyloid fibril formation.
Title: Shear flow induced changes in apolipoprotein C-II conformation and amyloid fibril formation.
Includes the observation of APOC4-APOC2 read-through transcription
Title: Identification and characterization of a new human gene (APOC4) in the apolipoprotein E, C-I, and C-II gene locus.
Our structural model for apoC-II fibrils suggests that apoC-II monomers fold and self-assemble to form a stable cross-beta-scaffold containing relatively unstructured connecting loops.
Title: A structural model for apolipoprotein C-II amyloid fibrils: experimental characterization and molecular dynamics simulations.
This study examines the association between APOE/C1/C4/C2 gene cluster variation using tagging single nucleotide polymorphisms and plasma lipid concentration along with risk of coronary heart disease in a prospective cohort.
Title: APOE/C1/C4/C2 gene cluster genotypes, haplotypes and lipid levels in prospective coronary heart disease risk among UK healthy men.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.

Submit: New GeneRIF Correction See all (34)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.

Common variants at 30 loci contribute to polygenic dyslipidemia.

Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P02655	P06858	LPL		HPRD	PubMed
BioGRID:106841	BioGRID:158237	LPL		BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
enzyme activator activity	IEA Inferred from Electronic Annotation more info
lipase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
lipid binding	IDA Inferred from Direct Assay more info	PubMed
lipoprotein lipase activator activity	IDA Inferred from Direct Assay more info	PubMed
phospholipase activator activity	IDA Inferred from Direct Assay 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 remnant clearance	IDA Inferred from Direct Assay more info	PubMed
chylomicron remodeling	IC Inferred by Curator more info	PubMed
high-density lipoprotein particle clearance	IMP Inferred from Mutant Phenotype more info	PubMed
lipid catabolic process	IEA Inferred from Electronic Annotation more info
lipid metabolic process	TAS Traceable Author Statement more info
lipid transport	IEA Inferred from Electronic Annotation more info
lipoprotein metabolic process	TAS Traceable Author Statement more info
lipoprotein transport	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	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	IDA Inferred from Direct Assay more info	PubMed
positive regulation of phospholipase activity	IDA Inferred from Direct Assay 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
reverse cholesterol transport	IC Inferred by Curator more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
transport	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
low-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
spherical high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
very-low-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: apolipoprotein C-II

Names: apolipoprotein C-II; apolipoprotein C2

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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

NG_008837.1 RefSeqGene

Range

4997..8580

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000483.4 → NP_000474.2 apolipoprotein C-II precursor

Status: REVIEWED

Source sequence(s)

AA883870, BU596546

Consensus CDS

CCDS12650.1

UniProtKB/Swiss-Prot

P02655

Related

ENSP00000252490, ENST00000252490

Conserved Domains (1) summary

pfam05355
Location:24 – 100
Blast Score: 329

Apo-CII; Apolipoprotein C-II

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p5 Primary Assembly

Range

45449239..45452822

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

41879798..41883381

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC011481.4 (88809..92384)	None
genomic	AY422955.1	AAQ91814.1
genomic	CH471126.1	EAW57311.1
		EAW57312.1
		EAW57313.1
genomic	FJ525875.1	ACN81313.1
genomic	J02698.1	AAA98743.1
genomic	M10612.1	AAB59380.1
genomic	X05151.1	CAA28798.1
mRNA	AA883870.1	None
mRNA	AF113884.1	AAD28193.1
mRNA	AV694494.1	None
mRNA	BC005348.2	AAH05348.3
mRNA	BC065270.1	AAH65270.1
mRNA	BT006708.1	AAP35354.1
mRNA	BU596546.1	None
mRNA	M29844.1	AAA51743.1
mRNA	X00568.1	CAA25234.1
other-genetic	EU832654.1	ACE87745.1
other-genetic	EU832732.1	ACE87064.1