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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

APOC3 Gene

protein-coding GIFtS: 59
GCID: GC11P116700

apolipoprotein C-III

Explore 74 diseases affiliated with
APOC3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Apolipoprotein C-III¹ ²		Apo-CIII³
Apolipoprotein C3² ³		ApoC-III³
APOCIII²		Apo-CIII³
HALP2²		ApoC-III³

External Ids:	HGNC: 610¹	Entrez Gene: 345²	Ensembl: ENSG00000110245⁷	OMIM: 107720⁵	UniProtKB: P02656³

Export aliases for APOC3 gene to outside databases

Previous GC identifers: GC11P119053 GC11P118212 GC11P116734 GC11P116238 GC11P116205 GC11P112632

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for APOC3:

Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic

lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely

linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and

C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of

hypertriglyceridemia. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: APOC3_HUMAN, P02656

Function: Inhibits lipoprotein lipase and hepatic lipase and decreases the uptake of lymph chylomicrons by hepatic

cells. This suggests that it delays the catabolism of triglyceride-rich particles

Gene Wiki entry for APOC3 (Apolipoprotein C3)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the APOC3 gene promoter:
COUP-TF1 PPAR-gamma1 COUP-TF COUP PPAR-gamma2 HNF-4alpha2 HNF-4alpha1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): APOC3 promoter sequence

Search SABiosciences Chromatin IP Primers for APOC3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APOC3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.3 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23.3

APOC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOC3 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P116700: view genomic region (about GC identifiers)

Start:	116,700,422 bp from pter	End:	116,703,788 bp from pter
Size:	3,367 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: APOC3_HUMAN, P02656 (See protein sequence)

Recommended Name: Apolipoprotein C-III precursor

Size: 99 amino acids; 10852 Da

Subcellular location: Secreted

1 PDB 3D structure from and Proteopedia for APOC3:

2JQ3 (3D)

Secondary accessions: Q08E83 Q6Q786

Explore the universe of human proteins at neXtProt for APOC3: NX_P02656

Post-translational modifications:

O-linked glycan consists of Gal-GalNAc disaccharide, further modified with up to 3 sialic acid residues. O-glycosylated

on Thr-94 with a core 1 or possibly core 8 glycan¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P02656

APOC3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000031.1

ENSEMBL proteins:

ENSP00000410614 ENSP00000227667 ENSP00000364494

Reactome Protein details: P02656
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant APOC3 Protein
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: APOC3 OriGene Protein Over-expression Lysate: APOC3 OriGene Custom Protein Services for APOC3
	GenScript Custom Purified and Recombinant Proteins Services for APOC3
	Novus Biologicals APOC3 Proteins Novus Biologicals APOC3 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for APOC3

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IDA	11060345
GO:0034361	very-low-density lipoprotein particle	IDA	17154273
GO:0034363	intermediate-density lipoprotein particle	IDA	17336988
GO:0034366	spherical high-density lipoprotein particle	IDA	17438339

APOC3 for ontologies About GeneDecksing

APOC3 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of APOC3
	Browse R&D Systems for Antibodies
	OriGene Antibodies (see all 2): APOC3 OriGene Custom Antibody Services for APOC3
	GenScript Superior Antibodies for APOC3
	Novus Biologicals APOC3 Antibodies
	Abcam antibodies for APOC3
	Uscn Antibodies for APOC3
	ThermoFisher Antibodies for APOC3

Assay Products for APOC3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for APOC3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for APOC3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

APOC3 for domains About GeneDecksing

1 InterPro domain/family:

IPR008403 Apo-CIII

Graphical View of Domain Structure for InterPro Entry P02656

ProtoNet protein and cluster: P02656

1 Blocks protein family: IPB008403 Apolipoprotein CIII

UniProtKB/Swiss-Prot: APOC3_HUMAN, P02656

Similarity: Belongs to the apolipoprotein C3 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: APOC3_HUMAN, P02656

Function: Inhibits lipoprotein lipase and hepatic lipase and decreases the uptake of lymph chylomicrons by hepatic

cells. This suggests that it delays the catabolism of triglyceride-rich particles

Genatlas biochemistry entry for APOC3:

apolipoprotein C-III,major component of VLDL,associated with isolated low high density lipoprotein cholesterol

miRNA Products:		OriGene 3'-UTR Clone: APOC3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APOC3
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate APOC3:
		hsa-miR-30b* hsa-miR-4267
		SwitchGear 3'UTR luciferase reporter plasmid: APOC3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APOC3 (see all 7) OriGene shRNA RFP: APOC3 OriGene siRNA: APOC3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APOC3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for APOC3

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APOC3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APOC3 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: APOC3 (NM_000040)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for APOC3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APOC3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for APOC3
		Search LifeMap BioReagents cell lines for APOC3

In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for APOC3

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005543	phospholipid binding	IDA	11060345
GO:0008289	lipid binding	--	--
GO:0015485	cholesterol binding	IC	11162594
GO:0030234	enzyme regulator activity	IDA	11060345
GO:0055102	lipase inhibitor activity	IDA	3973011

APOC3 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for APOC3: Apoc3^tm1Lap Apoc3^tm1Unc Apoa1/Apoc3/Apoa4^{Apoa1/Apoc3/tm1Hmez}
     10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Apoc3):

adipose tissue	behavior/neurological	cardiovascular system	cellular	growth/size
hematopoietic system	homeostasis/metabolism	immune system	no phenotypic analysis	normal

APOC3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lipoprotein metabolism

	Lipoprotein metabolism	1.00			Chylomicron-mediated lipid transport	0.57
	HDL-mediated lipid transport	0.57			Lipid digestion, mobilization, and transport	0.56

Retinoid metabolism and transport

	Retinoid metabolism and transport	1.00			Diseases associated with visual transduction	0.73
	Visual phototransduction	0.74

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Statin Pathway, Pharmacodynamics

Statin Pathway, Pharmacodynamics

1.00

Statin Pathway

0.80

Disease

Disease

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for APOC3

Statin Pathway

5/11 Reactome Pathways for APOC3 (see all 11)

	Diseases associated with visual transduction
	Metabolism
	Chylomicron-mediated lipid transport
	Visual phototransduction
	Disease

1 PharmGKB Pathway for APOC3

Statin Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for APOC3):

PPAR signaling pathway

APOC3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for APOC3

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/14 Interacting proteins for APOC3 (P02656³ ENSP00000227667⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818
ALB	P02768³, ENSP00000295897⁴	I2D: score=1 STRING: ENSP00000295897
APOA1	P02647³, ENSP00000236850⁴	I2D: score=1 STRING: ENSP00000236850
APOA2	ENSP00000356969⁴	STRING: ENSP00000356969
APOA4	ENSP00000350425⁴	STRING: ENSP00000350425

About this table

Gene Ontology (GO): 5/35 biological process terms (GO ID links to tree view) (see all 35): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	TAS	--
GO:0006641	triglyceride metabolic process	IMP	17142127
GO:0006642	triglyceride mobilization	IEA	--
GO:0006869	lipid transport	--	--
GO:0006954	inflammatory response	IEA	--

APOC3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

APOC3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for APOC3
10/52 Novoseek chemical compound relationships for APOC3 gene (see all 52) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sele	78.1	3	11341749 (1), 11714857 (1), 15076187 (1)
cholesterol	76.5	160	17589176 (3), 9062353 (2), 9254056 (2), 10884292 (2) (see all 83)
lipid	73.8	106	10924113 (4), 19622837 (4), 15649902 (3), 16495512 (2) (see all 61)
mspi	69.2	21	17853951 (2), 9062353 (1), 15585206 (1), 15910632 (1) (see all 13)
fenofibrate	62.4	9	8847480 (2), 9519345 (1), 9888873 (1), 10494028 (1) (see all 6)
cholesterol ester	61.4	6	16343038 (1), 15472476 (1), 8376576 (1), 11284423 (1)
fenofibric acid	56.6	2	7860752 (1), 11731332 (1)
gemfibrozil	50	8	8824106 (2), 8847480 (2), 9069450 (1), 10494028 (1)
triacylglycerol	49.7	15	19622837 (4), 19287187 (2), 11171287 (1), 17243549 (1) (see all 9)
xbai	49.2	11	9254071 (1), 1978683 (1), 9571626 (1), 1678604 (1)

1 PharmGKB related drug/compound annotation for APOC3 gene

Drug/compound	PharmGKB Annotation
ritonavir	CA

About this table

Search CenterWatch for drugs/clinical trials and news about APOC3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for APOC3 gene:

NM_000040.1

Unigene Cluster for APOC3:

Apolipoprotein C-III

Hs.73849 [show with all ESTs]

Unigene Representative Sequence: BI521580

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000433777 ENST00000227667(uc001ppt.1) ENST00000375345 ENST00000470144

miRNA Products:		OriGene 3'-UTR Clone: APOC3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APOC3
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate APOC3:
		hsa-miR-30b* hsa-miR-4267
		SwitchGear 3'UTR luciferase reporter plasmid: APOC3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APOC3 (see all 7) OriGene shRNA RFP: APOC3 OriGene siRNA: APOC3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APOC3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APOC3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APOC3 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: APOC3 (NM_000040)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for APOC3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APOC3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APOC3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat APOC3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APOC3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APOC3

Additional cDNA sequence:

BC027977.1 BC121081.1 BC134419.1 M28613.1 M28614.1 V01513.1 X00567.1 X01388.1

5 DOTS entries:

DT.448198 DT.92430743 DT.100776403 DT.92430741 DT.118212

24/79 AceView cDNA sequences (see all 79):

AV653065 AV647240 AV646175 T61186 T48409 AA340472 CR605747 M28613

V01513 NM_000040 R96421 AV655530 AI373881 T50765 AV654429 R99316

R99409 AV654763 H73199 H71142 BE465246 AV659757 BC027977 CD607223

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

APOC3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGGCCTCCC

About this image

APOC3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Embryoid bodies (Two-step protocol fo...)

See APOC3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for APOC3

SOURCE GeneReport for Unigene cluster: Hs.73849

UniProtKB/Swiss-Prot: APOC3_HUMAN, P02656

Tissue specificity: Constitutes 50% of the protein fraction of VLDL and 2% of that of HDL. Synthesized predominantly in

liver and to a lesser degree in intestine

SABiosciences Expression via Pathway-Focused PCR Arrays including APOC3:

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Fatty Liver in human mouse rat

PPAR Targets in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APOC3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat APOC3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APOC3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APOC3

In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for APOC3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for APOC3 gene from 1/5 species (see all 5) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Apoc3^{1 , 5}	apolipoprotein C-III^{1, 5}	74.91(n)¹ 62.89(a)¹		9 (25.36 cM)⁵ 11814¹ NM_023114.3¹ NP_075603.1¹ 46232933⁵

ENSEMBL Gene Tree for APOC3 (if available)
TreeFam Gene Tree for APOC3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs76353203^1,2	C	pathogenic	120740390(+)	`CTGCCC/TGTAAG`	2	R *	stg¹		0	--	--	--	--
rs7101528^1,2	C,A,	--	112630935(+)	`AAGCCG/ATCTGG`	1	--	us2k¹		1		CSA	2
rs12420607^1,2	C,H,	--	112631055(+)	`TTAACA/GTCTAC`	1	--	us2k¹ tfbs³		1		NA	2
rs2727788^1,2	C,F,A,	--	112631235(-)	`ggcacG/Tagaat`	1	--	us2k¹		7		NS NA WA CSA	51
rs12721083^1,2	C,F,	--	112631608(+)	`ACTCTG/TCTGTC`	1	--	us2k¹		2		NS	192
rs12721078^1,2	C,F,	--	112631667(+)	`TGGACC/ACGCTG`	1	--	us2k¹		3		NS	232
rs12721079^1,2	C,	--	112631920(+)	`CAGCCC/TCGAGA`	1	--	us2k¹		3		NS WA	194
rs12721077^1,2	C,F,	--	112631952(+)	`ACCACC/TGACTC`	1	--	us2k¹		2		NS	192
rs12721080^1,2	C,F,	--	112631953(+)	`CCACCG/AACTCC`	1	--	us2k¹		6		NS NA	284
rs12721081^1,2	C,	--	112632066(+)	`GGAACC/TCAGGA`	1	--	us2k¹		4		NS	280

HapMap Linkage Disequilibrium report for APOC3 (116700422 - 116703788 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for APOC3: --
Human Gene Mutation Database (HGMD): APOC3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APOC3

DNA2.0 Custom Variant and Variant Library Synthesis for APOC3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

APOC3 for disorders About GeneDecksing

OMIM gene information: 107720 OMIM disorders: --

UniProtKB/Swiss-Prot: APOC3_HUMAN, P02656

Defects in APOC3 are the cause of hyperalphalipoproteinemia type 2 (HALP2) [MIM:614028]. HALP2 is a condition

characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels

20/74 diseases for APOC3 (see all 74): About MalaCards

hypertriglyceridemia carotid intimal medial thickness lipoprotein lipase deficiency maturity-onset diabetes of the young

congenital disorder of glycosylation type ii hepatitis patent ductus arteriosus cutis laxa

congenital disorder of glycosylation familial combined hyperlipidemia hyperalphalipoproteinemia type 2 diabetes mellitus

coronary heart disease hypoalphalipoproteinemia myocardial infarction hyperlipidemia

glucose intolerance amyotrophic lateral sclerosis diabetes mellitus insulin resistance

6 diseases from the University of Copenhagen DISEASES database for APOC3:

Coronary heart disease Atherosclerosis Familial hyperlipidemia Diabetes mellitus

Familial hypertriglyceridemia Cutis laxa

10/36 Novoseek disease relationships for APOC3 gene (see all 36) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hypertriglyceridemia	86.5	79	20368524 (5), 8675624 (4), 18201179 (3), 17919884 (3) (see all 45)
hyperlipidemia familial combined	74.6	4	11181747 (1), 14569462 (1), 11583715 (1), 10357835 (1)
dyslipidemia	72.6	24	18663085 (2), 18240956 (2), 12818412 (2), 16298371 (2) (see all 16)
hypertriglyceridemias familial	64.3	2	10064743 (1), 8076943 (1)
coronary heart disease	60.3	17	11483625 (2), 12818412 (2), 11500189 (1), 19900229 (1) (see all 12)
atherosclerosis	58.5	16	19262004 (3), 8994037 (1), 9519342 (1), 10884292 (1) (see all 12)
coronary artery disease	55.7	25	14563827 (2), 12235176 (2), 20002542 (2), 16682041 (1) (see all 15)
lipid disorders	53.6	3	18240956 (1), 15809899 (1), 1386457 (1)
congenital disorders	51.7	4	14578315 (1), 16037491 (1), 17170056 (1)
hyperalphalipoproteinemia	50.7	2	8462178 (1), 2022742 (1)

Genatlas disease: APOC3

hyperalphalipoproteinemia with an APOC-III variant

Genetic Association Database (GAD): APOC3
Human Genome Epidemiology (HuGE) Navigator: APOC3 (195 documents)

Export disorders for APOC3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for APOC3 gene, integrated from 9 sources (see all 686):
(articles sorted by number of sources associating them with APOC3)

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Apolipoprotein C-III protein concentrations and gene polymorphisms in type 1 diabetes: associations with lipoprotein subclasses. (PubMed id 15375785)^{1, 4, 9} Klein R.L....Garvey W.T. (2004)
Apolipoprotein C-III protein concentrations and gene polymorphisms in Type 1 diabetes: associations with microvascular disease complications in the DCCT/EDIC cohort. (PubMed id 15642486)^{1, 4, 9} Klein R.L....Garvey W.T. (2005)
Apolipoprotein C-III, n-3 polyunsaturated fatty acids, and 'insulin-resistant' T-455C APOC3 gene polymorphism in heart disease patients: example of gene-diet interaction. (PubMed id 15576429)^{1, 4, 9} Olivieri O....Corrocher R. (2005)
Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease. (PubMed id 14563827)^{1, 4, 9} Olivieri O....Corrocher R. (2003)
Apolipoprotein C-III(Lys-58-->Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. (PubMed id 2022742)^{1, 2, 9} von Eckardstein A....Assmann G. (1991)
ApoC-III gene polymorphisms and risk of coronary artery disease. (PubMed id 12235176)^{1, 4, 9} Olivieri O....Corrocher R. (2002)
An interaction between apo C-III variants and protease inhibitors contributes to high triglyceride/low HDL levels in treated HIV patients. (PubMed id 11740190)^{1, 4, 9} Fauvel J....Perret B. (2001)
Population prevalence of APOE, APOC3 and PPAR-alpha mutations associated to hypertriglyceridemia in French Canadians. (PubMed id 15549499)^{1, 4, 9} Garenc C....Julien P. (2004)
APOC3/A5 haplotypes, lipid levels, and risk of myocardial infarction in the Central Valley of Costa Rica. (PubMed id 16192625)^{1, 4, 9} Ruiz-Narvaez E.A....Campos H. (2005)
The study of APOA1, APOC3 and APOA4 variability in healthy ageing people reveals another paradox in the oldest old subjects. (PubMed id 12556235)^{1, 4, 9} Garasto S....De Benedictis G. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 345	HGNC: 610	AceView: APOC3	Ensembl:ENSG00000110245	euGenes: HUgn345
ECgene: APOC3	Kegg: 345	H-InvDB: APOC3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for APOC3	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOC3

Intellectual Property for APOC3 gene
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Patent Information for APOC3 gene:
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Congenital Disorders
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apolipoprotein C-III

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