APOE (GeneID: 348) | Homo sapiens
Description: apolipoprotein E [Source:HGNC Symbol;Acc:HGNC:613]
Synonyms: LDLCQ5, AD2, ApoE4, LPG, APO-E
Other ID(s): HGNC:613, ENSG00000130203
Protein Accession Numbers: NP_001289618, ENST00000446996, ENST00000252486.4, NP_001289620, NP_001289617, ENST00000434152, ENST00000252486, NP_001289619, NP_000032, ENST00000425718
Statistics: ClinVar(188) gnomAD(403) COSMIC(88) PTM(16)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000252486 You are here now! ENST00000425718 ENST00000434152 ENST00000446996 NP_000032 You are here now! NP_001289617 NP_001289618 You are here now! NP_001289619 You are here now! NP_001289620 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF01442 Apolipoprotein Apolipoprotein A1/A4/E domain 81-288 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Spontaneous abortion Female Urogenital Diseases and Pregnancy Complications ; 0.352 0.931
Abortion, Tubal Female Urogenital Diseases and Pregnancy Complications ; 0.352 0.931
Adenocarcinoma Neoplasms ; 0.352 0.931
Alcoholic Intoxication, Chronic Chemically-Induced Disorders ; Mental Disorders ; 0.352 0.931
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.352 0.931
Amyloidosis Nutritional and Metabolic Diseases ; 0.352 0.931
Arteriosclerosis Cardiovascular Diseases ; 0.352 0.931
Atherosclerosis Cardiovascular Diseases ; 0.352 0.931
Bipolar Disorder Mental Disorders ; 0.352 0.931
Cardiovascular Diseases Cardiovascular Diseases ; 0.352 0.931
Carotid Artery Diseases Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
Carotid Stenosis Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
Cognition Disorders Mental Disorders ; 0.352 0.931
Coronary heart disease Cardiovascular Diseases ; 0.352 0.931
Delirium Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.352 0.931
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.352 0.931
Pathological accumulation of air in tissues Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Arterial Fatty Streak Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Hepatitis, Toxic Digestive System Diseases ; Chemically-Induced Disorders ; 0.352 0.931
Hepatolenticular Degeneration Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.352 0.931
Hypercholesterolemia Nutritional and Metabolic Diseases ; 0.352 0.931
Hypercholesterolemia, Familial Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.352 0.931
Hyperlipidemia Nutritional and Metabolic Diseases ; 0.352 0.931
Hyperlipoproteinemia Type III Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.352 0.931
Hypertensive disease Cardiovascular Diseases ; 0.352 0.931
Jacksonian Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Lung Neoplasms Neoplasms ; Respiratory Tract Diseases ; 0.352 0.931
Mercury Poisoning Chemically-Induced Disorders ; 0.352 0.931
Multiple Sclerosis Nervous System Diseases ; Immune System Diseases ; 0.352 0.931
Myocardial Infarction Cardiovascular Diseases ; 0.352 0.931
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Obesity Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Pustulosis of Palms and Soles Skin and Connective Tissue Diseases ; 0.352 0.931
Proteinuria Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Psoriasis Skin and Connective Tissue Diseases ; 0.352 0.931
Kidney Failure Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.352 0.931
Schizophrenia Mental Disorders ; 0.352 0.931
Sea-Blue Histiocyte Syndrome Nervous System Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.352 0.931
Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Splenomegaly Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Cerebral Amyloid Angiopathy Nervous System Diseases ; Cardiovascular Diseases ; Nutritional and Metabolic Diseases ; 0.352 0.931
Alcohol abuse Chemically-Induced Disorders ; Mental Disorders ; 0.352 0.931
Complex partial seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Adenocarcinoma, Basal Cell Neoplasms ; 0.352 0.931
Adenocarcinoma, Oxyphilic Neoplasms ; 0.352 0.931
Carcinoma, Cribriform Neoplasms ; 0.352 0.931
Carcinoma, Granular Cell Neoplasms ; 0.352 0.931
Adenocarcinoma, Tubular Neoplasms ; 0.352 0.931
Generalized seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Seizures, Clonic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Disease Exacerbation Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Dyslipidemias Nutritional and Metabolic Diseases ; 0.352 0.931
Malignant neoplasm of lung Neoplasms ; Respiratory Tract Diseases ; 0.352 0.931
Age related macular degeneration Eye Diseases ; 0.352 0.931
Atheroma Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Visual seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Tonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Epileptic drop attack Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.352 0.931
Sporadic Cerebral Amyloid Angiopathy Nervous System Diseases ; Cardiovascular Diseases ; Nutritional and Metabolic Diseases ; 0.352 0.931
Internal Carotid Artery Stenosis Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
Multiple Sclerosis, Acute Relapsing Nervous System Diseases ; Immune System Diseases ; 0.352 0.931
Seizures, Somatosensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Seizures, Auditory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Olfactory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Gustatory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Vertiginous seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.352 0.931
Tonic - clonic seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.352 0.931
Carotid Atherosclerosis Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
Dyslipoproteinemias Nutritional and Metabolic Diseases ; 0.352 0.931
External Carotid Artery Diseases Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
Hyperlipoproteinemia Type IIa Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.352 0.931
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.352 0.931
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.352 0.931
Internal Carotid Artery Diseases Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
Arterial Diseases, Common Carotid Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
Non-epileptic convulsion Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Single Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Atonic Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Multiple Sclerosis, Acute Fulminating Nervous System Diseases ; Immune System Diseases ; 0.352 0.931
Convulsive Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Seizures, Focal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Seizures, Sensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Carotid Artery Plaque Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
Carotid Ulcer Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
Common Carotid Artery Stenosis Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
External Carotid Artery Stenosis Nervous System Diseases ; Cardiovascular Diseases ; 0.352 0.931
Multiple Sclerosis, Relapsing-Remitting Nervous System Diseases ; Immune System Diseases ; 0.352 0.931
Drug-Induced Liver Disease Digestive System Diseases ; Chemically-Induced Disorders ; 0.352 0.931
Hepatitis, Drug-Induced Digestive System Diseases ; Chemically-Induced Disorders ; 0.352 0.931
hearing impairment Otorhinolaryngologic Diseases ; Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Hepatic Form of Wilson Disease Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.352 0.931
Atherogenesis Cardiovascular Diseases ; 0.352 0.931
Renal Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.352 0.931
Hyperlipoproteinemia Type IIb Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.352 0.931
Lipidemias Nutritional and Metabolic Diseases ; 0.352 0.931
ALZHEIMER DISEASE 4 Nervous System Diseases ; Mental Disorders ; 0.352 0.931
Apolipoprotein E, Deficiency or Defect of Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.352 0.931
Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d Nutritional and Metabolic Diseases ; 0.352 0.931
Familial Hyperbeta- and Prebetalipoproteinemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.352 0.931
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis Nutritional and Metabolic Diseases ; 0.352 0.931
Broad-Betalipoproteinemia Nutritional and Metabolic Diseases ; 0.352 0.931
Floating-Betalipoproteinemia Nutritional and Metabolic Diseases ; 0.352 0.931
CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO N/A 0.352 0.931
ALZHEIMER DISEASE 2 Nervous System Diseases ; Mental Disorders ; 0.352 0.931
Macular Degeneration, Age-Related, 1 Eye Diseases ; 0.352 0.931
LIPOPROTEIN GLOMERULOPATHY Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.352 0.931
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5 N/A 0.352 0.931
Fibroatheroma Pathological Conditions, Signs and Symptoms ; 0.352 0.931
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 N/A 0.352 0.931
Nonepileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Drug-Induced Acute Liver Injury Digestive System Diseases ; Chemically-Induced Disorders ; 0.352 0.931
Convulsions Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Chemical and Drug Induced Liver Injury Digestive System Diseases ; Chemically-Induced Disorders ; 0.352 0.931
Chemically-Induced Liver Toxicity Digestive System Diseases ; Chemically-Induced Disorders ; 0.352 0.931
Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Epileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Myoclonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
Generalized Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.352 0.931
NO RESULT FOUND
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