APP (GeneID: 351) | Homo sapiens
Description: amyloid beta precursor protein [Source:HGNC Symbol;Acc:HGNC:620]
Synonyms: PN-II, AD1, AAA, VAP, CTFgamma, ABPP, PN2, APPI, ABETA
Other ID(s): HGNC:620, ENSG00000142192
Protein Accession Numbers: ENST00000354192, ENST00000448850, NP_001191231, ENST00000346798, ENST00000439274, NP_001129602, ENST00000358918, NP_000475, NP_001372182, ENST00000348990, ENST00000448388, NP_001191230, ENST00000415997, NP_001129601, NP_958817, ENST00000357903, ENST00000456209, NP_001191232, ENST00000346798.3, ENST00000440126, NP_001129603, ENST00000359726, NP_001129488, NP_958816
Statistics: ClinVar(118) gnomAD(599) COSMIC(793) PTM(40)
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.
ENST00000346798 ENST00000348990 ENST00000354192 ENST00000357903 ENST00000358918 ENST00000359726 ENST00000415997 ENST00000439274 ENST00000440126 You are here now! ENST00000448388 ENST00000448850 ENST00000456209 NP_000475 NP_001129488 You are here now! NP_001129601 NP_001129602 NP_001129603 NP_001191230 NP_001191231 NP_001191232 NP_001372182 NP_958816 NP_958817


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
PF00014 Kunitz_BPTI Kunitz/Bovine pancreatic trypsin inhibitor domain 290-342 Homo sapiens
PF02177 APP_N Amyloid A4 N-terminal heparin-binding 31-131 Homo sapiens
PF03494 Beta-APP Beta-amyloid peptide (beta-APP) 675-713 Homo sapiens
PF10515 APP_amyloid Beta-amyloid precursor protein C-terminus 716-766 Homo sapiens
PF12924 APP_Cu_bd Copper-binding of amyloid precursor, CuBD 132-188 Homo sapiens
PF12925 APP_E2 E2 domain of amyloid precursor protein 366-548 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.43 0.862
Amnesia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.43 0.862
Amyloidosis Nutritional and Metabolic Diseases ; 0.43 0.862
Anxiety Disorders Mental Disorders ; 0.43 0.862
Bipolar Disorder Mental Disorders ; 0.43 0.862
Brain Diseases Nervous System Diseases ; 0.43 0.862
Cognition Disorders Mental Disorders ; 0.43 0.862
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.43 0.862
Mental Depression Behavior and Behavior Mechanisms ; 0.43 0.862
Endogenous depression Mental Disorders ; 0.43 0.862
Depressive disorder Mental Disorders ; 0.43 0.862
Fragile X Syndrome Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.43 0.862
Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.43 0.862
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.43 0.862
Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.43 0.862
Necrosis Pathological Conditions, Signs and Symptoms ; 0.43 0.862
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.43 0.862
Spinal Cord Diseases Nervous System Diseases ; 0.43 0.862
Splenomegaly Pathological Conditions, Signs and Symptoms ; 0.43 0.862
Weight Gain Pathological Conditions, Signs and Symptoms ; 0.43 0.862
Cerebral Amyloid Angiopathy Nervous System Diseases ; Cardiovascular Diseases ; Nutritional and Metabolic Diseases ; 0.43 0.862
Encephalopathies Nervous System Diseases ; 0.43 0.862
Premature aging syndrome Pathological Conditions, Signs and Symptoms ; 0.43 0.862
Hysterical amnesia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.43 0.862
Memory impairment Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.43 0.862
Temporary Amnesia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.43 0.862
Todd Paralysis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.43 0.862
Mental deterioration Mental Disorders ; 0.43 0.862
Dissociative Amnesia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.43 0.862
Global Amnesia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.43 0.862
Degenerative Diseases, Central Nervous System Nervous System Diseases ; 0.43 0.862
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.43 0.862
Senile Plaques Pathological Conditions, Signs and Symptoms ; 0.43 0.862
Sporadic Cerebral Amyloid Angiopathy Nervous System Diseases ; Cardiovascular Diseases ; Nutritional and Metabolic Diseases ; 0.43 0.862
Senile Paranoid Dementia Nervous System Diseases ; Mental Disorders ; 0.43 0.862
Impaired cognition Mental Disorders ; 0.43 0.862
Anxiety States, Neurotic Mental Disorders ; 0.43 0.862
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.43 0.862
Dementia Nervous System Diseases ; Mental Disorders ; 0.43 0.862
Paralysed Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.43 0.862
Neurodegenerative Disorders Nervous System Diseases ; 0.43 0.862
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.43 0.862
Neurogenic Inflammation Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.43 0.862
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.43 0.862
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.43 0.862
Tactile Amnesia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.43 0.862
Amnestic State Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.43 0.862
Familial Dementia Nervous System Diseases ; Mental Disorders ; 0.43 0.862
FRAXA Syndrome Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.43 0.862
FRAXE Syndrome Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.43 0.862
Adult Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.43 0.862
Learning Disturbance Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.43 0.862
Learning Disabilities Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.43 0.862
Age-Related Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.43 0.862
Memory Disorder, Semantic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.43 0.862
Memory Disorder, Spatial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.43 0.862
Memory Loss Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.43 0.862
Degenerative Diseases, Spinal Cord Nervous System Diseases ; 0.43 0.862
Mild cognitive disorder Mental Disorders ; 0.43 0.862
Anxiety neurosis (finding) Mental Disorders ; 0.43 0.862
Developmental Academic Disorder Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.43 0.862
PRESENILE AND SENILE DEMENTIA Nervous System Diseases ; Mental Disorders ; 0.43 0.862
ALZHEIMER DISEASE, FAMILIAL, 1 Nervous System Diseases ; Mental Disorders ; 0.43 0.862
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Nervous System Diseases ; Mental Disorders ; 0.43 0.862
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.43 0.862
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.43 0.862
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.43 0.862
Plaque, Amyloid Pathological Conditions, Signs and Symptoms ; 0.43 0.862
ALZHEIMER DISEASE, PROTECTION AGAINST N/A 0.43 0.862
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.43 0.862
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.43 0.862
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.43 0.862
Periodic Fever Syndrome N/A 0.43 0.862
NO RESULT FOUND
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