Showing entry for Presenilin-2


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT010747
Protein NamePresenilin-2
Uniport IdP49810
GenePSEN2
Gene Id5664
DomainPresenilin
Pfam PF01080  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
3. Environmental Information Processing 3.2 Signal transduction hsa04330 Notch signaling pathway
5. Organismal Systems 5.6 Nervous system hsa04722 Neurotrophin signaling pathway
6. Human Diseases 6.4 Neurodegenerative diseases hsa05010 Alzheimer disease
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0050435 amyloid-beta metabolic process
Biological Process GO:0042987 amyloid precursor protein catabolic process
Biological Process GO:0006816 calcium ion transport
Biological Process GO:0048013 ephrin receptor signaling pathway
Biological Process GO:0035556 intracellular signal transduction
Biological Process GO:0006509 membrane protein ectodomain proteolysis
Biological Process GO:0031293 membrane protein intracellular domain proteolysis
Biological Process GO:1990456 mitochondrion-endoplasmic reticulum membrane tethering
Biological Process GO:0043066 negative regulation of apoptotic process
Biological Process GO:0007220 Notch receptor processing
Biological Process GO:0035333 Notch receptor processing, ligand-dependent
Biological Process GO:0043065 positive regulation of apoptotic process
Biological Process GO:0043085 positive regulation of catalytic activity
Biological Process GO:0016485 protein processing
Biological Process GO:0110097 regulation of calcium import into the mitochondrion
Biological Process GO:0001666 response to hypoxia
molecular function GO:0042500 aspartic endopeptidase activity, intramembrane cleaving
molecular function GO:0004175 endopeptidase activity
cellular component GO:0016324 apical plasma membrane
cellular component GO:0030424 axon
cellular component GO:0005938 cell cortex
cellular component GO:0009986 cell surface
cellular component GO:0005813 centrosome
cellular component GO:0035253 ciliary rootlet
cellular component GO:0043198 dendritic shaft
cellular component GO:0005769 early endosome
cellular component GO:0005783 endoplasmic reticulum
cellular component GO:0005789 endoplasmic reticulum membrane
cellular component GO:0005794 Golgi apparatus
cellular component GO:0000139 Golgi membrane
cellular component GO:0030426 growth cone
cellular component GO:0005887 integral component of plasma membrane
cellular component GO:0000776 kinetochore
cellular component GO:0005765 lysosomal membrane
cellular component GO:0016020 membrane
cellular component GO:0045121 membrane raft
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0031594 neuromuscular junction
cellular component GO:0043025 neuronal cell body
cellular component GO:0005637 nuclear inner membrane
cellular component GO:0005634 nucleus
cellular component GO:0048471 perinuclear region of cytoplasm
cellular component GO:0005886 plasma membrane
cellular component GO:0032991 protein-containing complex
cellular component GO:0097060 synaptic membrane
cellular component GO:0008021 synaptic vesicle
cellular component GO:0030018 Z disc
Reactome
Pathway Id Pathway Name
R-HSA-1236394 Signaling by ERBB4
R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-1266738 Developmental Biology
R-HSA-157118 Signaling by NOTCH
R-HSA-157118 Signaling by NOTCH
R-HSA-162582 Signal Transduction
R-HSA-162582 Signal Transduction
R-HSA-1643685 Disease
R-HSA-193692 Regulated proteolysis of p75NTR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-1980143 Signaling by NOTCH1
R-HSA-1980145 Signaling by NOTCH2
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-205043 NRIF signals cell death from the nucleus
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer
R-HSA-2644603 Signaling by NOTCH1 in Cancer
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-422475 Axon guidance
R-HSA-5663202 Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-73887 Death Receptor Signalling
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-9012852 Signaling by NOTCH3
R-HSA-9013507 NOTCH3 Activation and Transmission of Signal to the Nucleus
R-HSA-9013694 Signaling by NOTCH4
R-HSA-9013700 NOTCH4 Activation and Transmission of Signal to the Nucleus
R-HSA-9017802 Noncanonical activation of NOTCH3
R-HSA-9675108 Nervous system development
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001418 BXGD000050 Adenocarcinoma Neoplasms
C0001787 BXGD000076 Osteoporosis, Age-Related Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0002622 BXGD000119 Amnesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0002726 BXGD000125 Amyloidosis Nutritional and Metabolic Diseases
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003537 BXGD000208 Aphasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004045 BXGD000249 Asphyxia Neonatorum Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005586 BXGD000315 Bipolar Disorder Mental Disorders
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0007820 BXGD000491 Cerebrovascular Disorders Nervous System Diseases; Cardiovascular Diseases
C0009241 BXGD000595 Cognition Disorders Mental Disorders
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0009676 BXGD000619 Confusion Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0010346 BXGD000664 Crohn Disease Digestive System Diseases
C0010633 BXGD000679 Cystadenoma Neoplasms
C0011265 BXGD000708 Presenile dementia Nervous System Diseases; Mental Disorders
C0011615 BXGD000738 Dermatitis, Atopic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
C0011847 BXGD000749 Diabetes Endocrine System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013080 BXGD000797 Down Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0013146 BXGD000801 Drug abuse Chemically-Induced Disorders; Mental Disorders
C0013595 BXGD000858 Eczema Skin and Connective Tissue Diseases
C0014556 BXGD000932 Epilepsy, Temporal Lobe Nervous System Diseases
C0016034 BXGD001034 Breast Fibrocystic Disease Skin and Connective Tissue Diseases
C0017638 BXGD001132 Glioma Neoplasms
C0018524 BXGD001200 Hallucinations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0021670 BXGD001509 insulinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0023015 BXGD001601 Language Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0023787 BXGD001698 Lipodystrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0024121 BXGD001735 Lung Neoplasms Neoplasms; Respiratory Tract Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0029459 BXGD002159 Osteoporosis, Senile Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0030305 BXGD002206 Pancreatitis Digestive System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0030920 BXGD002263 Peptic Ulcer Digestive System Diseases
C0032927 BXGD002381 Precancerous Conditions Neoplasms
C0035372 BXGD002544 Rett Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038868 BXGD002781 Progressive supranuclear palsy Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0039070 BXGD002787 Syncope Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085220 BXGD003142 Cerebral Amyloid Angiopathy Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
C0085400 BXGD003165 Neurofibrillary degeneration (morphologic abnormality)
C0085631 BXGD003214 Agitation Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0151908 BXGD003502 Dry skin Skin and Connective Tissue Diseases
C0233407 BXGD004576 Disorientation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0233794 BXGD004618 Memory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0234144 BXGD004625 Dysgraphia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234410 BXGD004665 Physiologic disinhibition
C0234509 BXGD004679 Finger Agnosia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0236053 BXGD004808 Mucosal ulcer Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0236642 BXGD004815 Pick Disease of the Brain Nervous System Diseases; Mental Disorders
C0238033 BXGD004861 Carcinoma of Male Breast Neoplasms; Skin and Connective Tissue Diseases
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0242422 BXGD005163 Parkinsonian Disorders Nervous System Diseases
C0271270 BXGD006178 Oculovestibuloauditory syndrome Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
C0271650 BXGD006227 Impaired glucose tolerance Nutritional and Metabolic Diseases
C0276496 BXGD006426 Familial Alzheimer Disease (FAD) Nervous System Diseases; Mental Disorders
C0278601 BXGD006547 Inflammatory Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0279680 BXGD006680 Transitional cell carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0333463 BXGD006954 Senile Plaques Pathological Conditions, Signs and Symptoms
C0338445 BXGD007175 Familial Alzheimer's disease of early onset Nervous System Diseases; Mental Disorders
C0338451 BXGD007176 Frontotemporal dementia Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
C0338462 BXGD007180 Semantic Dementia Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0340427 BXGD007329 Familial dilated cardiomyopathy Cardiovascular Diseases
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424296 BXGD008525 Social disinhibition Mental Disorders
C0427515 BXGD008619 Neutrophil abnormality
C0476403 BXGD008992 Electromyogram abnormal
C0494463 BXGD009029 Alzheimer Disease, Late Onset Nervous System Diseases; Mental Disorders
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0521158 BXGD009130 Recurrent tumor
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0542476 BXGD009276 Forgetful Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0546126 BXGD009328 Acute Confusional Senile Dementia Nervous System Diseases; Mental Disorders
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0750900 BXGD010241 Alzheimer's Disease, Focal Onset Nervous System Diseases; Mental Disorders
C0750901 BXGD010242 Alzheimer Disease, Early Onset Nervous System Diseases; Mental Disorders
C0751071 BXGD010311 Familial Dementia Nervous System Diseases; Mental Disorders
C0751072 BXGD010312 Frontotemporal Lobar Degeneration Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
C0751295 BXGD010383 Memory Loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0752347 BXGD010721 Lewy Body Disease Nervous System Diseases; Mental Disorders
C0871189 BXGD011312 Psychotic symptom
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0919267 BXGD011426 ovarian neoplasm Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1140680 BXGD011718 Malignant neoplasm of ovary Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C1269955 BXGD012005 Tumor Cell Invasion
C1270972 BXGD012006 Mild cognitive disorder Mental Disorders
C1280433 BXGD012125 Lipoatrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1449563 BXGD013086 Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1611743 BXGD013456 Familial (FPAH)
C1833362 BXGD013919 Sleep-wake cycle disturbance
C1843013 BXGD014549 Alzheimer disease, familial, type 3 Nervous System Diseases; Mental Disorders
C1847200 BXGD014857 ALZHEIMER DISEASE 4 Nervous System Diseases; Mental Disorders
C1853934 BXGD015367 Deposits immunoreactive to beta-amyloid protein
C1858680 BXGD015819 Familial encephalopathy with neuroserpin inclusion bodies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1867773 BXGD016471 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
C1963060 BXGD016679 Agitation, CTCAE 3.0
C1963167 BXGD016686 Memory Impairment, CTCAE 3.0
C1969363 BXGD016773 Middle age onset
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2748208 BXGD017586 Executive dysfunction
C2931784 BXGD018062 Amyloid angiopathy Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
C3150958 BXGD018364 Cardiomyopathy, Dilated, 1V Cardiovascular Diseases
C3489733 BXGD018945 Oculomotor apraxia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
C3711380 BXGD019386 Huntington Disease-Like Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3810041 BXGD019631 ALZHEIMER DISEASE 18
C3811918 BXGD019664 GRN-related frontotemporal dementia Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
C3887551 BXGD019898 Memory dysfunction Mental Disorders
C4021087 BXGD020546 Abnormal social behavior Behavior and Behavior Mechanisms
C4022794 BXGD021000 Parietal hypometabolism in FDG PET
C4025846 BXGD021826 Abnormality of vision
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4521042 BXGD023055 Complete Trisomy 21 Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4551583 BXGD023361 Cerebral cortical atrophy
C4551675 BXGD023384 Keratoderma, Palmoplantar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C4552855 BXGD023528 Agitation, CTCAE 5.0
C4553765 BXGD023551 Memory Impairment, CTCAE 5.0
C4721610 BXGD023760 Carcinoma, Ovarian Epithelial Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000663 Papain 206.28
BXGC0021052 Uscharin 587.26
BXGC0033727 Calotropin 532.27
BXGC0043920 Ursocholanic Acid 360.3
BXGC0052647 Asclepin 574.28
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein