The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]

  • Response to reactive oxygen species
  • Retinoid metabolic process
  • Negative regulation of endothelial cell proliferation
  • Response to dietary excess
  • Regulation of transcription by RNA polymerase II

  • Lipoprotein glomerulopathy
  • Hyperlipoproteinemia, type iii
  • Sea-blue histiocyte disease
  • Alzheimer disease 2
  • Macular degeneration, age-related, 1

  • Familial Hypercholesterolemia

Based on Ayass Bioscience, LLC Data Analysis

APOE (apolipoprotein E) – BioGPS

Interacting Proteins for APOE Gene – String

APOE Localizations – Subcellular Localization Database

Ajpolino. A structural model of the 22k fragment of apolipoprotein E4 based on data from Dong J, Peters-Libeu CA, Weisgraber KH, Segelke BW, Rupp B, Capila I, Hernaiz MJ, LeBrun LA, and Linhardt RJ (2001). Interaction of the N-terminal domain of apolipoprotein E4 with heparin. Biochemistry. 40: 2826-2834. DOI: 10.1021/bi002417n. Data accessed from the protein data bank at https://www.rcsb.org/structure/1B68 and modeled using PyMOL.

Gene Location

Pathogenic Prevalence

% 5.15832482124617

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

HM-VUS Prevalence

% 0.255362614913177

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants

A=0.000016(2/128644,GnomAD_exome)
A=0.000048(6/125568,TOPMED)
A=0.0000(0/2188,ALFAProject)

C=0.138498(23502/169692,GnomAD_exome)
C=0.155597(19538/125568,TOPMED)
C=0.00000(0/78676,PAGE_STUDY)
C=0.03702(1624/43872,ALFAProject)
C=0.16444(5135/31228,GnomAD)
C=0.18433(5332/28926,ExAC)
C=0.1506(754/5008,1000G)
C=0.1246(558/4480,Estonian)
C=0.1539(593/3854,ALSPAC)
C=0.1397(518/3708,TWINSUK)
C=0.0917(268/2922,KOREAN)
C=0.0956(170/1778,Korea1K)
C=0.148(89/600,NorthernSweden)
C=0.106(23/216,Qatari)
C=0.014(3/208,HapMap)
T=0.468(74/158,SGDP_PRJ)
C=0.23(9/40,GENOME_DK)
T=0.2(1/4,Siberian)

T=0.061504(8425/136984,GnomAD_exome)
T=0.086501(10945/126530,ALFAProject)
T=0.082139(10314/125568,TOPMED)
T=0.08268(2571/31094,GnomAD)
T=0.07182(972/13534,ExAC)
T=0.0751(376/5008,1000G)
T=0.1009(452/4480,Estonian)
T=0.0924(356/3854,ALSPAC)
T=0.0917(340/3708,TWINSUK)
T=0.0693(200/2888,KOREAN)
T=0.0720(97/1348,HapMap)
T=0.082(49/600,NorthernSweden)
T=0.014(3/216,Qatari)
C=0.45(29/64,SGDP_PRJ)
T=0.20(8/40,GENOME_DK)
C=0.5(4/8,Siberian)
T=0.5(4/8,Siberian)

T=0.001421(220/154854,GnomAD_exome)
T=0.006706(842/125568,TOPMED)
T=0.00053(47/89298,ALFAProject)
T=0.00554(173/31232,GnomAD)
T=0.00264(39/14800,ExAC)
T=0.0074(37/5008,1000G)
T=0.026(7/274,HapMap)
T=0.009(2/216,Qatari)
C=0.5(1/2,SGDP_PRJ)
T=0.5(1/2,SGDP_PRJ)

High/Med VUS Variants

T=0.001421(220/154854,GnomAD_exome)
T=0.006706(842/125568,TOPMED)
T=0.00053(47/89298,ALFAProject)
T=0.00554(173/31232,GnomAD)
T=0.00264(39/14800,ExAC)
T=0.0074(37/5008,1000G)
T=0.026(7/274,HapMap)
T=0.009(2/216,Qatari)
C=0.5(1/2,SGDP_PRJ)
T=0.5(1/2,SGDP_PRJ)

A=0.000452(75/165832,GnomAD_exome)
A=0.000462(58/125568,TOPMED)
A=0.00045(14/31272,GnomAD)
A=0.00135(25/18518,ExAC)
A=0.00079(10/12682,GO-ESP)
A=0.0009(2/2188,ALFAProject)