Showing entry for Voltage-dependent L-type calcium channel subunit beta-4


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT003907
Protein NameVoltage-dependent L-type calcium channel subunit beta-4
Uniport IdO00305
GeneCACNB4
Gene Id785
DomainGuanylate_kin; VGCC_beta4_N
Pfam PF00625   PF12052  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
3. Environmental Information Processing 3.2 Signal transduction hsa04010 MAPK signaling pathway
5. Organismal Systems 5.3 Circulatory system hsa04260 Cardiac muscle contraction
5. Organismal Systems 5.3 Circulatory system hsa04261 Adrenergic signaling in cardiomyocytes
5. Organismal Systems 5.2 Endocrine system hsa04921 Oxytocin signaling pathway
6. Human Diseases 6.6 Cardiovascular diseases hsa05410 Hypertrophic cardiomyopathy (HCM)
6. Human Diseases 6.6 Cardiovascular diseases hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
6. Human Diseases 6.6 Cardiovascular diseases hsa05414 Dilated cardiomyopathy (DCM)
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0061337 cardiac conduction
Biological Process GO:0007268 chemical synaptic transmission
Biological Process GO:0051899 membrane depolarization
Biological Process GO:0007528 neuromuscular junction development
Biological Process GO:1901385 regulation of voltage-gated calcium channel activity
molecular function GO:0005245 voltage-gated calcium channel activity
cellular component GO:0009898 cytoplasmic side of plasma membrane
cellular component GO:0005829 cytosol
cellular component GO:0005886 plasma membrane
cellular component GO:0045202 synapse
cellular component GO:0005891 voltage-gated calcium channel complex
Reactome
Pathway Id Pathway Name
R-HSA-112308 Presynaptic depolarization and calcium channel opening
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System
R-HSA-1266738 Developmental Biology
R-HSA-375165 NCAM signaling for neurite out-growth
R-HSA-419037 NCAM1 interactions
R-HSA-422475 Axon guidance
R-HSA-9675108 Nervous system development
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001807 BXGD000077 Aggressive behavior Behavior and Behavior Mechanisms
C0002170 BXGD000105 Alopecia Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009952 BXGD000639 Febrile Convulsions Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014548 BXGD000928 Epilepsy, Generalized Nervous System Diseases
C0014550 BXGD000930 Myoclonic Epilepsy Nervous System Diseases
C0017332 BXGD001107 Generalized Nonconvulsive Seizure Disorder Nervous System Diseases
C0023380 BXGD001640 Lethargy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0026633 BXGD001910 Mouth Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0038220 BXGD002740 Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042571 BXGD002991 Vertigo Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0086236 BXGD003272 Epilepsy, Atonic Nervous System Diseases
C0086241 BXGD003275 Epilepsy, Tonic Nervous System Diseases
C0240991 BXGD005069 Ataxia, Sensory Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270850 BXGD006117 Idiopathic generalized epilepsy Nervous System Diseases
C0270853 BXGD006119 Juvenile Myoclonic Epilepsy Nervous System Diseases
C0270854 BXGD006120 Symptomatic Generalized Epilepsy Nervous System Diseases
C0271390 BXGD006198 Nystagmus, End-Position
C0278161 BXGD006504 Ataxia, Motor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0311334 BXGD006876 Generalized convulsive epilepsy Nervous System Diseases
C0347869 BXGD007861 Epilepsy, Akinetic Nervous System Diseases
C0391958 BXGD008020 Familial Epilepsies Nervous System Diseases
C0395920 BXGD008173 Migrainous vertigo Nervous System Diseases; Otorhinolaryngologic Diseases
C0427190 BXGD008611 Ataxia, Truncal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0497202 BXGD009055 Abnormal ocular motility
C0520966 BXGD009128 Abnormal coordination Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0598589 BXGD009667 Inherited neuropathies Nervous System Diseases
C0750937 BXGD010259 Ataxia, Appendicular Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0750940 BXGD010260 Tremor, Rubral Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751122 BXGD010325 Infantile Severe Myoclonic Epilepsy Nervous System Diseases
C1449563 BXGD013086 Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases
C1720189 BXGD013668 Episodic Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1839565 BXGD014386 Optic Atrophy Spastic Paraplegia Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C1843921 BXGD014620 Postural instability Nervous System Diseases
C1846131 BXGD014783 Photosensitive tonic-clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1847164 BXGD014854 Morning myoclonic jerks Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1847165 BXGD014855 Generalized tonic-clonic seizures on awakening Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1866039 BXGD016365 EPISODIC ATAXIA, TYPE 5 Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2750887 BXGD017683 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
C2750888 BXGD017684 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4013473 BXGD020130 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
C4021757 BXGD020760 EEG with polyspike wave complexes
C4316903 BXGD022711 Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317109 BXGD022725 Epileptic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4551857 BXGD023424 Juvenile Myoclonic Epilepsy of Janz Nervous System Diseases
C4552768 BXGD023524 Myoclonic Epilepsy, Adolescent Nervous System Diseases
C4553087 BXGD023534 Myoclonic Epilepsy, Juvenile, 1 Nervous System Diseases
C4553298 BXGD023539 Impulsive Petit Mal Epilepsy Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0003611 Latex 416.57
BXGC0006372 Ergocalciferol 396.65
BXGC0007525 (-)-Menthol 156.27
BXGC0024988 Nifedipine 346.12
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