APOA5 (apolipoprotein A5)

2014-11-01 Affiliation

Identity

HGNC

APOA5

LOCATION

11q23.3

LOCUSID

116519

ALIAS

APOAV,RAP3

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: 116519
MIM: 606368
HGNC: 17288
Ensembl: ENSG00000110243

Variants:

dbSNP: 116519
ClinVar: 116519
TCGA: ENSG00000110243
COSMIC: APOA5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000110243	ENST00000227665	Q6Q788
ENSG00000110243	ENST00000227665	A0A0B4RUS7
ENSG00000110243	ENST00000433069	A0A0B4RUS7
ENSG00000110243	ENST00000433069	C9JZZ0
ENSG00000110243	ENST00000542499	Q6Q788
ENSG00000110243	ENST00000542499	A0A0B4RUS7

Expression (GTEx)

100

150

200

250

300

350

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
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
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	REACTOME	R-HSA-400206
PPARA activates gene expression	REACTOME	R-HSA-1989781

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA164742099	MTTP	Gene	Pathway	associated
PA444528	Hyperlipidemias	Disease	ClinicalAnnotation	associated	PD	19530961
PA446120	Hypertriglyceridemia	Disease	ClinicalAnnotation	associated	PD	17431185, 19056598, 19057464
PA448500	atorvastatin	Chemical	ClinicalAnnotation	associated	PD	19530961
PA449594	fenofibrate	Chemical	ClinicalAnnotation	associated	PD	17431185, 19056598, 19057464
PA450272	lovastatin	Chemical	ClinicalAnnotation	associated	PD	19530961
PA451363	simvastatin	Chemical	ClinicalAnnotation	associated	PD	19530961

References

Pubmed ID	Year	Title	Citations
18193043	2008	Newly identified loci that influence lipid concentrations and risk of coronary artery disease.	690
20714348	2010	Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.	246
11588264	2001	An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing.	224
20657596	2010	Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.	199
20452521	2010	Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies.	141
20400780	2010	Candidate gene association resource (CARe): design, methods, and proof of concept.	102
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19185284	2009	Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.	84
12417525	2002	Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.	75
12417525	2002	Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.	75

Citation

Dessen P

APOA5 (apolipoprotein A5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60424/apoa5-(apolipoprotein-a5)