|
Gene id |
348 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
APOE Gene UCSC Ensembl |
|
Aliases |
AD2, APO-E, ApoE4, LDLCQ5, LPG |
|
Gene name |
apolipoprotein E |
|
Alternate names |
apolipoprotein E, apolipoprotein E3, |
|
Gene location |
19q13.32 (44905748: 44909394) Exons: 6 NC_000019.10
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
107741 |
Protein Summary
|
| Protein general information
| P02649
Name: Apolipoprotein E (Apo E)
Length: 317 Mass: 36,154
|
| Sequence |
MKVLWAALLVTFLAGCQAKVEQAVETEPEPELRQQTEWQSGQRWELALGRFWDYLRWVQTLSEQVQEELLSSQVT
QELRALMDETMKELKAYKSELEEQLTPVAEETRARLSKELQAAQARLGADMEDVCGRLVQYRGEVQAMLGQSTEE
LRVRLASHLRKLRKRLLRDADDLQKRLAVYQAGAREGAERGLSAIRERLGPLVEQGRVRAATVGSLAGQPLQERA
QAWGERLRARMEEMGSRTRDRLDEVKEQVAEVRAKLEEQAQQIRLQAEAFQARLKSWFEPLVEDMQRQWAGLVEK
VQAAVGTSAAPVPSDNH
|
| Structural information |
|
| Other Databases |
GeneCards: APOE Malacards: APOE |
|
| GO accession | Term name | Evidence code | Go category |
|---|
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|
|
|
|
| Associated diseases |
References |
| Cancer | GAD: 14561921 |
| Cancer (Adenoma) | GAD: 11166913 |
| Cancer (bladder) | GAD: 19692168 |
| Cancer (Central nervous system) | GAD: 12003753 |
| Cancer (cervical) | GAD: 19857550 |
| Cancer (Chronic Lymphocytic Leukemia) | GAD: 21121903 |
| Cancer (colon) | GAD: 18992263 |
| Cancer (colorectal) | GAD: 15523694 |
| Cancer (glaucoma) | GAD: 16148883 |
| Cancer (glioblastoma) | GAD: 14561921 |
| Cancer (head and neck) | GAD: 20861397 |
| Cancer (leukemia) | GAD: 18784741 |
| Cancer (lung) | GAD: 18676680 |
| Cancer (lymphoma) | GAD: 18636124 |
| Cancer (prostate) | GAD: 11720484 |
| Cancer (Renal cell) | GAD: 19808960 |
| Cancer (breast) | GAD: 15138483 |
| Aneurysm | GAD: 19008959 |
| Aortic valve stenosis | GAD: 14530190 |
| Apoplexy | GAD: 20161734 |
| Atherosclerosis | GAD: 11512679 |
| Brain ischemia | GAD: 18511872 |
| Cardiovascular disease | GAD: 11975906 |
| Carotid artery diseases | GAD: 12579507 |
| Cerebral amyloid angiopathy (CAA) | GAD: 15634227 |
| Cerebral hemorrhage | GAD: 19686716 |
| Cerebral infarction | GAD: 17016617 |
| Cerebrovascular disease | GAD: 12871600 |
| Cerebrovascular disease | GAD: 19901172 |
| Coronary heart disease | GAD: 11975906 |
| Myocardial Infarction | GAD: 11975906 |
| Angina pectoris | GAD: 18927546 |
| Restenosis | GAD: 11975906 |
| Thrombosis | GAD: 19072566 |
| Atherosclerosis | GAD: 11975906 |
| Smith-Lemli-Opitz syndrome | GAD: 15286151 |
| Fam hyperbetalipoproteinaemia | GAD: 11849659 |
| Familial dysbetalipoproteinemia | GAD: 1864973 |
| Hyperhomocysteinemia | GAD: 17704619 |
| Gout | GAD: 12626798 |
| Holoprosencephaly | GAD: 11857554 |
| Down syndrome | GAD: 9189907 |
| Neuropathy | GAD: 11849755 |
| Rett syndrome | GAD: 20139413 |
| Cleft defects | GAD: 20634891 |
| Gallbladder diseases | GAD: 16882462 |
| Diabetic nephropathy | GAD: 15983323 |
| Choroid diseases | GAD: 15488782 |
| Familial age-related macular degeneration | GAD: 12742846 |
| Glaucoma | GAD: 16148883 |
| Macular degeneration | GAD: 15829498 |
| Exfoliation syndrome | GAD: 17488453 |
| Retinal diseases | GAD: 18079687 |
| Anemia | GAD: 20425806 |
| Beta-thalassemia | GAD: 17296580 |
| Sickle cell anemia | GAD: 11975906 |
| Thrombophilia | GAD: 11975906 |
| Thrombophilia | GAD: 14706682 |
| Inflammation memory disorders | GAD: 20065134 |
| Behcet's disease | GAD: 15569012 |
| Inflammatory bowel disease | GAD: 17111197 |
| Sjogren's syndrome | GAD: 15328426 |
| Ulcerative colitis | GAD: 18762952 |
| Multiple sclerosis | GAD: 19786693 |
| Psoriasis | GAD: 19499236 |
| Amyloidosis | GAD: 11791620 |
| Cholelithiasis | GAD: 15133863 |
| Diabetes | GAD: 12724690 |
| Familial combined hyperlipidemia | GAD: 12915220 |
| Fatty liver | GAD: 18465245 |
| Fredrickson hyperlipoproteinemia | GAD: 19656773 |
| Hyperlipidemia | GAD: 16143024 |
| Ketosis | GAD: 19300863 |
| Insulin resistance | GAD: 18645733 |
| Hypertriglyceridemia | GAD: 11126401 |
| Hypercholesterolemia | GAD: 15135251 |
| Metabolic syndrome | GAD: 18515697 |
| Obesity | GAD: 18645733 |
| Obesity | GAD: 11975906 |
| Hyperlipoproteinemia | GAD: 9548597 |
| Dyslipidemias | GAD: 18512131 |
| Xanthomatosis | GAD: 16503883 |
| Dyslipidemia | GAD: 7706948 |
| Bone diseases | GAD: 15375600 |
| Osteoporosis | GAD: 15340366 |
| Spinal diseases | GAD: 19951017 |
| Aphasia | GAD: 19494491 |
| Creutzfeldt-Jakob disease | GAD: 11684342 |
| Delirium | GAD: 19910874 |
| Dystonia | GAD: 20437541 |
| Encephalitis | GAD: 18349428 |
| Memory disorders | GAD: 18374494 |
| Sleep disorders | GAD: 16944667 |
| Temporal lobe epilepsy | GAD: 10932283 |
| Perceptual disorders | GAD: 15643038 |
| Lewy body disease | GAD: 19006190 |
| Lewy body disease | GAD: 19433657 |
| Neurodegenerative diseases | GAD: 20191120 |
| Wilsons disease | GAD: 19722128 |
| Spinal muscular atrophy | GAD: 10545039 |
| Cervical dystonia | GAD: 19857550 |
| Stroke | GAD: 11975906 |
| Stroke | GAD: 8711797 |
| Subarachnoid hemorrhage | GAD: 11975906 |
| Subarachnoid hemorrhage | GAD: 15726267 |
| Brain ischemia | GAD: 11975906 |
| Myasthenia gravis | GAD: 20644276 |
| Guillain-Barre syndrome | GAD: 12810796 |
| Frontotemporal dementia | GAD: 12107813 |
| Frontotemporal lobar degeneration | GAD: 11939896 |
| Alzheimer's disease | GAD: 18395955 |
| Amnesia | GAD: 19217759 |
| Brain edema | GAD: 19251191 |
| Epilepsy | GAD: 18805361 |
| Parkinson disease | GAD: 20876472 |
| Amyotrophic lateral sclerosis (ALS) | GAD: 7668834 |
| Cerebral palsy | GAD: 18810496 |
| Attention deficit disorder conduct disorder oppositional defiant disorder | GAD: 11140838 |
| Autism | GAD: 17621165 |
| Cognitive function | GAD: 12113906 |
| Dementia | GAD: 15066068 |
| Depression | GAD: 11526473 |
| Major depressive disorder | GAD: 19135213 |
| Mood disorders | GAD: 18926856 |
| Psychological disorders | GAD: 12736093 |
| Schizophrenia | GAD: 12837518 |
| Familial and sporadic frontotemporal dementia | GAD: 11598310 |
| Albuminuria | GAD: 21054877 |
| Chronic kidney failure | GAD: 16382017 |
| Kidney diseases | GAD: 19274077 |
| Abortion | GAD: 20175773 |
| Chorioamnionitis | GAD: 20452482 |
| Preeclampsia | GAD: 12175441 |
| Endometriosis | INFBASE: 22266326 |
| Female infertility | INFBASE: 19230882 |
| Human oocyte maturation | INFBASE: 19230882 |
| Oocyte maturation | INFBASE: 19230882 |
| Polycystic ovary syndrome (PCOS) | INFBASE: 19057990 |
| Recurrent pregnancy loss (RPL) | INFBASE: 22047507 |
| Unexplained infertility | INFBASE: 19230882 |
| Male factor infertility | MIK: 18443916 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 15193960 |
| Anoxia | GAD: 17518534 |
| Atrophy | GAD: 18511754 |
| Bulbar-onset motor neuron disease | GAD: 8544551 |
| Calcinosis | GAD: 18619685 |
| Endogenous hypertriglyceridemia and familial hypercholesterolemia | GAD: 1998645 |
| General cognitive ability | GAD: 11166947 |
| Posterior cortical atrophy | GAD: 15477533 |
| Ischemia | GAD: 11975906 |
| Ischemia | GAD: 11454010 |
| Lipoprotein glomerulopathy | GAD: 10529627 |
| Learning disorders | GAD: 19409447 |
| Renal insufficiency | GAD: 19852818 |
| Nephropathy | GAD: 16152798 |
| Nephrotic syndrome | GAD: 12042894 |
| Cataract | GAD: 18498549 |
| Downs syndrome | MIK: 8622392 |
| Downs syndrome | MIK: 9665649 |
| Fertility | MIK: 18443916 |
| Male infertility | MIK: 22568769 |
| Recurrent pregnancy loss | MIK: 22047507 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 22568769 |
Male infer
tility
|
|
|
215 (108 fertil
e men and 107 i
nfertile men)
|
Male infertility |
|
Show abstract |
| 9665649 |
Downs synd
rome
|
apolipoprotein E (apoE) allele epsilon 4 |
Spain
|
132 mothers and
the correspond
ing fathers and
DS children
|
Male infertility, Female infertility |
|
Show abstract |
| 8622392 |
Downs synd
rome
|
apoE allele epsilon4 |
Danish
|
188 Danish peop
le with non-mos
aic free trisom
y 21 of known p
arental origin
(determined by
DNA polymorphis
m analysis), an
d their parents
,
|
Male infertility, Female infertility |
|
Show abstract |
| 22047507 |
Recurrent
pregnancy
loss
|
FVL, factor V H1299R, factor II prothrombin G20210A, FXIII V34L, ?-fibrinogen -455G>A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo |
Turkish
|
976 (870 indivi
duals with RPL
(543 Turkish wo
men with RPL, 3
27 of their mal
e partners), 10
6 fertile coupl
es (control))
|
Male infertility, Female infertility |
VL-FVR2
ApoE2
PAI-1
MTHFR C677T-A1298C
ACE
|
Show abstract |
| 18443916 |
Fertility
|
PPAR-gamma Pro/Ala, APOE*2 allele |
|
151 healthy unr
elated subjects
|
Male infertility |
APOE
PPAR-gamma
|
Show abstract |
|