APOC2 apolipoprotein C2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sequence Variant Analysis of the APOCII Locus among an Arab Cohort.
Title: Sequence Variant Analysis of the APOCII Locus among an Arab Cohort.
Inverse association between apolipoprotein C-II and cardiovascular mortality: role of lipoprotein lipase activity modulation.
Title: Inverse association between apolipoprotein C-II and cardiovascular mortality: role of lipoprotein lipase activity modulation.
Inverse effects of APOC2 and ANGPTL4 on the conformational dynamics of lid-anchoring structures in lipoprotein lipase.
Title: Inverse effects of APOC2 and ANGPTL4 on the conformational dynamics of lid-anchoring structures in lipoprotein lipase.
ScRNA-seq expression of IFI27 and APOC2 identifies four alveolar macrophage superclusters in healthy BALF.
Title: ScRNA-seq expression of IFI27 and APOC2 identifies four alveolar macrophage superclusters in healthy BALF.
Apolipoprotein C2 - CD36 Promotes Leukemia Growth and Presents a Targetable Axis in Acute Myeloid Leukemia.
Title: Apolipoprotein C2 - CD36 Promotes Leukemia Growth and Presents a Targetable Axis in Acute Myeloid Leukemia.
Association of the lipoprotein lipase and Apolipoprotein C-II gene polymorphisms with risk of dyslipidemia in smokers and non-smokers male.
Title: Association of the lipoprotein lipase and Apolipoprotein C-II gene polymorphisms with risk of dyslipidemia in smokers and non-smokers male.
Apolipoprotein C-II induces EMT to promote gastric cancer peritoneal metastasis via PI3K/AKT/mTOR pathway.
Title: Apolipoprotein C-II induces EMT to promote gastric cancer peritoneal metastasis via PI3K/AKT/mTOR pathway.
Deregulation of apolipoprotein C2 gene in cancer: A potential metabolic vulnerability.
Title: Deregulation of apolipoprotein C2 gene in cancer: A potential metabolic vulnerability.
Plasma apolipopotein C-2 elevation is associated with Takayasu arteritis.
Title: Plasma apolipopotein C-2 elevation is associated with Takayasu arteritis.
Apolipoprotein C-II and C-III preferably transfer to both high-density lipoprotein (HDL)2 and the larger HDL3 from very low-density lipoprotein (VLDL).
Title: Apolipoprotein C-II and C-III preferably transfer to both high-density lipoprotein (HDL)2 and the larger HDL3 from very low-density lipoprotein (VLDL).

Submit: New GeneRIF Correction See all GeneRIFs (64)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91449 (e-PCR)
- UniSTS:84784

GDB:171122 (e-PCR)
- UniSTS:154771

GDB:181560 (e-PCR)
- UniSTS:155286

GDB:171136 (e-PCR)
- UniSTS:154775

RH18398 (e-PCR)
- UniSTS:57773

GDB:179875 (e-PCR)
- UniSTS:155055

RH46551 (e-PCR)
- UniSTS:31667

RH36305 (e-PCR)
- UniSTS:63673

Readthrough APOC4-APOC2

Readthrough gene: APOC4-APOC2, Included gene: APOC4

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

General protein information

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Preferred Names: apolipoprotein C-II

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.