APOC3 (apolipoprotein C3)

2009-08-01 Affiliation

Identity

HGNC

APOC3

LOCATION

11q23.3

LOCUSID

345

ALIAS

APOCIII

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 345
MIM: 107720
HGNC: 610
Ensembl: ENSG00000110245

Variants:

dbSNP: 345
ClinVar: 345
TCGA: ENSG00000110245
COSMIC: APOC3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000110245	ENST00000227667	P02656
ENSG00000110245	ENST00000227667	A3KPE2
ENSG00000110245	ENST00000375345	B0YIW2
ENSG00000110245	ENST00000433777	C9J2Q0
ENSG00000110245	ENST00000630701	B0YIW2

Expression (GTEx)

1000

2000

3000

4000

5000

6000

7000

8000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
PPAR signaling pathway	KEGG	ko03320
PPAR signaling pathway	KEGG	hsa03320
Signal Transduction	REACTOME	R-HSA-162582
Visual phototransduction	REACTOME	R-HSA-2187338
Retinoid metabolism and transport	REACTOME	R-HSA-975634
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Lipid digestion, mobilization, and transport	REACTOME	R-HSA-73923
Lipoprotein metabolism	REACTOME	R-HSA-174824
Chylomicron-mediated lipid transport	REACTOME	R-HSA-174800
HDL-mediated lipid transport	REACTOME	R-HSA-194223
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of fat-soluble vitamins	REACTOME	R-HSA-6806667

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA164742099	MTTP	Gene	Pathway	associated
PA444528	Hyperlipidemias	Disease	ClinicalAnnotation	associated	PD	15809899
PA447230	HIV Infections	Disease	ClinicalAnnotation, VariantAnnotation	associated	PD	15809899
PA451260	ritonavir	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD	15809899

References

Pubmed ID	Year	Title	Citations
18193043	2008	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	690
24941081	2014	Loss-of-function mutations in APOC3, triglycerides, and coronary disease.	281
20714348	2010	Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.	246
19074352	2008	A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.	224
19074352	2008	A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.	224
24941082	2014	Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.	204
20335584	2010	Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease.	117
20335584	2010	Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease.	117
16602826	2006	Lipoprotein genotype and conserved pathway for exceptional longevity in humans.	88
16602826	2006	Lipoprotein genotype and conserved pathway for exceptional longevity in humans.	88

Citation

Dessen P

APOC3 (apolipoprotein C3)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51037/apoc3