ANGPTL3 (angiopoietin like 3)

2007-04-01  

Identity

HGNC
LOCATION
1p31.3
LOCUSID
ALIAS
ANG-5,ANGPT5,ANL3,FHBL2

Other Information

Locus ID:

NCBI: 27329
MIM: 604774
HGNC: 491
Ensembl: ENSG00000132855

Variants:

dbSNP: 27329
ClinVar: 27329
TCGA: ENSG00000132855
COSMIC: ANGPTL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132855ENST00000371129Q9Y5C1

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
181930442008Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.575
207143482010Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.246
209426592010Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.179
285381362017Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.88
118773902002ANGPTL3 stimulates endothelial cell adhesion and migration via integrin alpha vbeta 3 and induces blood vessel formation in vivo.71
118773902002ANGPTL3 stimulates endothelial cell adhesion and migration via integrin alpha vbeta 3 and induces blood vessel formation in vivo.71
171106022007Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase.64
129096402003Protein region important for regulation of lipid metabolism in angiopoietin-like 3 (ANGPTL3): ANGPTL3 is cleaved and activated in vivo.57
191482832009Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.56

Citation

Dessen P

ANGPTL3 (angiopoietin like 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47315/angptl3-(angiopoietin-like-3)