Showing entry for Sodium channel protein type 4 subunit alpha


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT009839
Protein NameSodium channel protein type 4 subunit alpha
Uniport IdP35499
GeneSCN4A
Gene Id6329
DomainIon_trans; Na_trans_assoc
Pfam PF00520   PF06512  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0086010 membrane depolarization during action potential
Biological Process GO:0006936 muscle contraction
Biological Process GO:0019228 neuronal action potential
Biological Process GO:0034765 regulation of ion transmembrane transport
Biological Process GO:0100001 regulation of skeletal muscle contraction by action potential
Biological Process GO:0035725 sodium ion transmembrane transport
Biological Process GO:0006814 sodium ion transport
molecular function GO:0005261 cation channel activity
molecular function GO:0005244 voltage-gated ion channel activity
molecular function GO:0005248 voltage-gated sodium channel activity
cellular component GO:0030424 axon
cellular component GO:0005887 integral component of plasma membrane
cellular component GO:0005886 plasma membrane
cellular component GO:0001518 voltage-gated sodium channel complex
Reactome
Pathway Id Pathway Name
R-HSA-1266738 Developmental Biology
R-HSA-373760 L1CAM interactions
R-HSA-397014 Muscle contraction
R-HSA-422475 Axon guidance
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576891 Cardiac conduction
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-9675108 Nervous system development
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003578 BXGD000211 Apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0003811 BXGD000222 Cardiac Arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0004096 BXGD000252 Asthma Respiratory Tract Diseases; Immune System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0005747 BXGD000332 Blepharospasm Eye Diseases
C0005890 BXGD000345 Body Height
C0007789 BXGD000488 Cerebral Palsy Nervous System Diseases
C0008031 BXGD000511 Chest Pain Pathological Conditions, Signs and Symptoms
C0010278 BXGD000660 Craniosynostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0010520 BXGD000675 Cyanosis Pathological Conditions, Signs and Symptoms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0012569 BXGD000777 Diplopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0013144 BXGD000800 Drowsiness Mental Disorders
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013404 BXGD000833 Dyspnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0015644 BXGD001008 Muscular fasciculation Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015732 BXGD001018 Fecal Incontinence Digestive System Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020461 BXGD001395 Hyperkalemia Nutritional and Metabolic Diseases
C0020621 BXGD001449 Hypokalemia Nutritional and Metabolic Diseases
C0020625 BXGD001451 Hyponatremia Nutritional and Metabolic Diseases
C0020676 BXGD001462 Hypothyroidism Endocrine System Diseases
C0023066 BXGD001605 Laryngospasm Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024591 BXGD001789 Malignant hyperpyrexia due to anesthesia Pathological Conditions, Signs and Symptoms
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026837 BXGD001937 Muscle Rigidity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0026896 BXGD001946 Myasthenia Gravis Neoplasms; Immune System Diseases; Nervous System Diseases
C0027019 BXGD001961 Myelomonocytic leukemia Neoplasms
C0027125 BXGD001975 Myotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027126 BXGD001976 Myotonic Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027127 BXGD001977 Myotonia Congenita Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027868 BXGD002053 Neuromuscular Diseases Nervous System Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0030196 BXGD002192 Pain in limb Pathological Conditions, Signs and Symptoms
C0030443 BXGD002224 Familial Periodic Paralysis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0030554 BXGD002239 Paresthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0031106 BXGD002283 Aggressive Periodontitis Stomatognathic Diseases
C0031117 BXGD002285 Peripheral Neuropathy Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035232 BXGD002517 Respiratory Paralysis Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases
C0035410 BXGD002546 Rhabdomyolysis Musculoskeletal Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0038450 BXGD002759 Stridor Pathological Conditions, Signs and Symptoms
C0038644 BXGD002776 Sudden infant death syndrome Pathological Conditions, Signs and Symptoms
C0042510 BXGD002987 Ventricular Fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0042514 BXGD002989 Tachycardia, Ventricular Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0085619 BXGD003207 Orthopnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0085655 BXGD003226 Polymyositis Musculoskeletal Diseases; Nervous System Diseases
C0151468 BXGD003424 Thyroid Gland Follicular Adenoma Neoplasms; Endocrine System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0162292 BXGD003930 External Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0205682 BXGD004105 Waist-Hip Ratio
C0206667 BXGD004228 Adrenal Cortical Adenoma Neoplasms; Endocrine System Diseases
C0221055 BXGD004382 Paramyotonia Congenita (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0221170 BXGD004400 Muscular stiffness Nervous System Diseases
C0231528 BXGD004496 Myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231807 BXGD004524 Dyspnea on exertion Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0232197 BXGD004536 Fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0232466 BXGD004543 Feeding difficulties
C0234119 BXGD004622 Neuromuscular inhibition
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0238357 BXGD004916 Hyperkalemic periodic paralysis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0238358 BXGD004917 Hypokalemic periodic paralysis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0239234 BXGD004974 Low set ears
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0265219 BXGD005468 Miller Dieker syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0268104 BXGD005815 Disorder of purine metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268445 BXGD005948 Normokalemic Periodic Paralysis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0268446 BXGD005949 Thyrotoxic periodic paralysis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0268634 BXGD006018 Disorder of fatty acid metabolism Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0270736 BXGD006096 Essential Tremor Nervous System Diseases
C0270959 BXGD006140 Myotonia Levior Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0270960 BXGD006141 Congenital myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0349588 BXGD007933 Short stature
C0392699 BXGD008064 Dysesthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0399572 BXGD008255 Hypoplasia of mandibular condyle Musculoskeletal Diseases; Stomatognathic Diseases
C0410198 BXGD008416 Proximal myopathy Musculoskeletal Diseases; Nervous System Diseases
C0427063 BXGD008602 Shoulder girdle weakness
C0476403 BXGD008992 Electromyogram abnormal
C0476408 BXGD008994 Reduced vital capacity
C0520739 BXGD009106 Hereditary pyropoikilocytosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0541794 BXGD009262 Skeletal muscle atrophy
C0549629 BXGD009393 Abnormal delivery
C0553604 BXGD009402 Myotonic Disorders Musculoskeletal Diseases; Nervous System Diseases
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0677600 BXGD009720 Inspiratory stridor Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0751358 BXGD010408 Myotonic Phenomenon Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751359 BXGD010409 Percussion Myotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751360 BXGD010410 Becker Generalized Myotonia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0751401 BXGD010427 Ophthalmoparesis Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0751882 BXGD010626 Myasthenic Syndromes, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751883 BXGD010627 Congenital Myasthenic Syndromes, Postsynaptic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751884 BXGD010628 Congenital Myasthenic Syndromes, Presynaptic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751885 BXGD010629 Myasthenic Syndromes, Congenital, Slow Channel Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0752355 BXGD010725 Myotonia Fluctuans (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0856123 BXGD011094 Myotonia aggravated
C0947912 BXGD011497 Myasthenias Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1142166 BXGD011736 Brugada Syndrome (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1279412 BXGD012121 periodic paralysis (finding) Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1321422 BXGD012431 Monoblastic leukemia
C1386048 BXGD012950 Intrauterine retardation
C1720983 BXGD013698 Channelopathies Pathological Conditions, Signs and Symptoms
C1828221 BXGD013786 Non dystrophic myotonia Musculoskeletal Diseases; Nervous System Diseases
C1834536 BXGD013977 Weakness of the intrinsic hand muscles
C1837098 BXGD014198 Easy fatigability
C1837658 BXGD014257 Gross motor development delay Mental Disorders
C1840077 BXGD014434 Anteverted nostril
C1843637 BXGD014597 Neck flexor weakness
C1843700 BXGD014604 Increased variability in muscle fiber diameter
C1847584 BXGD014876 Distal sensory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1853952 BXGD015371 Decreased miniature endplate potentials
C1854301 BXGD015391 Motor delay Mental Disorders
C1854387 BXGD015396 Type 1 muscle fiber predominance
C1855520 BXGD015506 Hyperglycemia, Postprandial Nutritional and Metabolic Diseases
C1855580 BXGD015515 Exercise-induced muscle fatigue
C1857108 BXGD015677 Limitation of joint mobility
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1858430 BXGD015792 Death in infancy
C1858891 BXGD015833 PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
C1861403 BXGD016045 Variable expressivity
C1866934 BXGD016427 Reduced tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1868433 BXGD016501 Normokalemic Periodic Paralysis, Potassium-Sensitive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C1868598 BXGD016514 PARIETAL FORAMINA Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1868619 BXGD016516 Paramyotonia Congenita Without Cold Paralysis Musculoskeletal Diseases; Nervous System Diseases
C1868623 BXGD016517 Handgrip myotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2228039 BXGD016957 Ankle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C2230441 BXGD016958 Triceps weakness
C2265792 BXGD017012 Skeletal muscle hypertrophy
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2347761 BXGD017049 Childhood Myelodysplastic Syndrome Hemic and Lymphatic Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2750061 BXGD017642 Hypokalemic Periodic Paralysis, Type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C2750473 BXGD017666 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
C2830004 BXGD017804 Somnolence Pathological Conditions, Signs and Symptoms
C2919142 BXGD017867 Short Stature, CTCAE
C2931139 BXGD017965 Nondystrophic myotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2931689 BXGD018049 Dystrophia myotonica 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C2931826 BXGD018069 Potassium aggravated myotonia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C2936781 BXGD018135 Generalized Myotonia of Thomsen Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3149517 BXGD018282 LARYNGOSPASM, SEVERE NEONATAL EPISODIC
C3277226 BXGD018711 Restrictive ventilatory defect
C3279725 BXGD018774 Hip flexor weakness
C3280112 BXGD018803 MYASTHENIC SYNDROME, CONGENITAL, 16
C3463824 BXGD018899 MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases
C3489447 BXGD018932 Hyperkalemic Periodic Paralysis Type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C3714580 BXGD019414 Hypokalemic periodic paralysis type 1
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3805639 BXGD019483 Generalized muscle hypertrophy
C3807980 BXGD019534 Apneic episodes in infancy Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C3900098 BXGD020106 Adult Myelodysplastic Syndrome Hemic and Lymphatic Diseases
C4015465 BXGD020208 Thoracic kyphoscoliosis
C4016868 BXGD020382 PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA
C4016869 BXGD020383 MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
C4020730 BXGD020473 Increased intramyocellular lipid droplets
C4021553 BXGD020669 Periodic hypokalemic paresis
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4021728 BXGD020737 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
C4021776 BXGD020772 Abnormality of the voice
C4021979 BXGD020855 Muscular edema Pathological Conditions, Signs and Symptoms
C4022012 BXGD020868 Death in early adulthood
C4022169 BXGD020890 EMG: myotonic discharges
C4022584 BXGD020925 Fatigable weakness of neck muscles
C4022587 BXGD020928 Fatigable weakness of respiratory muscles
C4022682 BXGD020955 Cold-sensitive myotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4022683 BXGD020956 Myotonia of the upper limb Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4022684 BXGD020957 Myotonia of the lower limb Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4022685 BXGD020958 Myotonia of the jaw Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4022686 BXGD020959 Myotonia of the face Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4022691 BXGD020961 Facial muscle hypertrophy
C4022754 BXGD020983 Episodic hypokalemia Nutritional and Metabolic Diseases
C4023179 BXGD021138 Paradoxical myotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4023342 BXGD021158 Gastrostomy tube feeding in infancy
C4024601 BXGD021334 Weakness of long finger extensor muscles
C4025281 BXGD021621 Neonatal inspiratory stridor
C4025572 BXGD021671 Episodic flaccid weakness Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4025578 BXGD021675 Late-onset proximal muscle weakness
C4025615 BXGD021696 Decreased size of nerve terminals
C4025710 BXGD021746 Diminished movement Nervous System Diseases
C4072903 BXGD022020 Primary Caesarian section
C4073190 BXGD022064 Abnormality of masticatory muscle
C4531172 BXGD023201 Cold paresis Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0003705 Chloride 35.45
BXGC0018397 beta-1,4-mannan 180.06
BXGC0024988 Nifedipine 346.12
BXGC0041018 Saxitoxin 299.13
BXGC0043371 4-chlorophenol 128
BXGC0049369 Tetrodotoxin 319.1
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