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]
- Retinoid metabolic process
- Lipid metabolic process
- Lipid transport
- Positive regulation of phospholipase activity
- Positive regulation of triglyceride catabolic process
- Apolipoprotein c-ii deficiency
- Pancreatitis
- Hypertriglyceridemia, familial
- Hyperlipoproteinemia, type v
- Familial apolipoprotein c-ii deficiency
- Other Cardiac Condtions
Based on Ayass Bioscience, LLC Data Analysis
APOC2 Localizations – Subcellular Localization Database
Gene Location
HM-VUS Prevalence
% 0.357507660878447
Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)
High/Med VUS Variants
C=0.000692(174/251452,GnomAD_exome)
C=0.000868(109/125568,TOPMED)
C=0.000866(105/121256,ExAC)
C=0.00033(26/78692,PAGE_STUDY)
C=0.00041(13/31370,GnomAD)
C=0.00135(24/17748,ALFAProject)
C=0.0004(2/5008,1000G)
C=0.0005(2/3854,ALSPAC)
C=0.0003(1/3708,TWINSUK)
C=0.001(1/998,GoNL)
A=0.5(1/2,SGDP_PRJ)
C=0.5(1/2,SGDP_PRJ)
C=0.001828(459/251064,GnomAD_exome)
C=0.008211(1031/125568,TOPMED)
C=0.002375(276/116204,ExAC)
C=0.00028(26/92886,ALFAProject)
C=0.01219(959/78702,PAGE_STUDY)
C=0.00701(220/31370,GnomAD)
C=0.0078(39/5008,1000G)
C=0.021(7/328,HapMap)
C=0.009(2/216,Qatari)
A=0.5(1/2,SGDP_PRJ)
C=0.5(1/2,SGDP_PRJ)
