Showing entry for Muscle, skeletal receptor tyrosine-protein kinase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT004131
Protein NameMuscle, skeletal receptor tyrosine-protein kinase
Uniport IdO15146
GeneMUSK
Gene Id4593
DomainFz; I-set; Ig_3; Pkinase_Tyr
Pfam PF01392   PF07679   PF07714  
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:0030154 cell differentiation
Biological Process GO:0007613 memory
Biological Process GO:0007275 multicellular organism development
Biological Process GO:0007528 neuromuscular junction development
Biological Process GO:0010628 positive regulation of gene expression
Biological Process GO:0033674 positive regulation of kinase activity
Biological Process GO:2000541 positive regulation of protein geranylgeranylation
Biological Process GO:0001934 positive regulation of protein phosphorylation
Biological Process GO:0046777 protein autophosphorylation
Biological Process GO:0008582 regulation of synaptic growth at neuromuscular junction
Biological Process GO:0071340 skeletal muscle acetylcholine-gated channel clustering
Biological Process GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
molecular function GO:0005524 ATP binding
molecular function GO:0005518 collagen binding
molecular function GO:0046872 metal ion binding
molecular function GO:0004713 protein tyrosine kinase activity
molecular function GO:0038062 protein tyrosine kinase collagen receptor activity
molecular function GO:0004714 transmembrane receptor protein tyrosine kinase activity
cellular component GO:0005887 integral component of plasma membrane
cellular component GO:0031594 neuromuscular junction
cellular component GO:0045211 postsynaptic membrane
cellular component GO:0043235 receptor complex
Reactome
Pathway Id Pathway Name
R-HSA-1474244 Extracellular matrix organization
R-HSA-3000178 ECM proteoglycans
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002736 BXGD000127 Amyotrophic Lateral Sclerosis Nutritional and Metabolic Diseases; Nervous System Diseases
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0004096 BXGD000252 Asthma Respiratory Tract Diseases; Immune System Diseases
C0005586 BXGD000315 Bipolar Disorder Mental Disorders
C0005744 BXGD000330 Blepharophimosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0005890 BXGD000345 Body Height
C0007222 BXGD000454 Cardiovascular Diseases Cardiovascular Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0010054 BXGD000647 Coronary Arteriosclerosis Cardiovascular Diseases
C0010068 BXGD000648 Coronary heart disease Cardiovascular Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010520 BXGD000675 Cyanosis Pathological Conditions, Signs and Symptoms
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0011570 BXGD000729 Mental Depression Behavior and Behavior Mechanisms
C0011581 BXGD000733 Depressive disorder 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
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0012569 BXGD000777 Diplopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0013144 BXGD000800 Drowsiness Mental Disorders
C0013595 BXGD000858 Eczema Skin and Connective Tissue Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0019337 BXGD001319 Heroin Dependence Chemically-Induced Disorders; Mental Disorders
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0021390 BXGD001503 Inflammatory Bowel Diseases Digestive System Diseases
C0023418 BXGD001642 leukemia Neoplasms
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0026846 BXGD001939 Muscular Atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0026896 BXGD001946 Myasthenia Gravis Neoplasms; Immune System Diseases; Nervous System Diseases
C0027868 BXGD002053 Neuromuscular Diseases Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0030552 BXGD002238 Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0032460 BXGD002355 Polycystic Ovary Syndrome Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033999 BXGD002448 Pterygium Eye Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0038450 BXGD002759 Stridor Pathological Conditions, Signs and Symptoms
C0038868 BXGD002781 Progressive supranuclear palsy Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0042928 BXGD003014 Vocal Cord Paralysis Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0085619 BXGD003207 Orthopnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0085623 BXGD003210 Akinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0086132 BXGD003264 Depressive Symptoms Behavior and Behavior Mechanisms
C0086439 BXGD003284 Hypokinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0206620 BXGD004187 Lymphangioma, Cystic Neoplasms
C0231807 BXGD004524 Dyspnea on exertion Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0234182 BXGD004631 Gowers sign
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0240479 BXGD005039 Neck muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0240912 BXGD005062 Vertical Talus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0241521 BXGD005101 Ulnar deviation of hand Musculoskeletal Diseases
C0242339 BXGD005150 Dyslipidemias Nutritional and Metabolic Diseases
C0265783 BXGD005575 Congenital hypoplasia of lung Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0266786 BXGD005713 Short cord
C0268398 BXGD005933 Familial lichen amyloidosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0344315 BXGD007666 Depressed mood Behavior and Behavior Mechanisms
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0409477 BXGD008386 Ankylosis of the elbow joint Musculoskeletal Diseases
C0423112 BXGD008472 Short palpebral fissure
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0426818 BXGD008586 Thin rib
C0427063 BXGD008602 Shoulder girdle weakness
C0427065 BXGD008604 Distal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0431371 BXGD008676 Absence of septum pellucidum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431478 BXGD008692 Posteriorly rotated ear
C0476408 BXGD008994 Reduced vital capacity
C0521525 BXGD009139 Short neck
C0524620 BXGD009236 Metabolic Syndrome X Nutritional and Metabolic Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0566694 BXGD009492 Small placenta
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0694563 BXGD009854 Excessive daytime somnolence
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0751339 BXGD010394 Myasthenia Gravis, Generalized Neoplasms; Immune System Diseases; Nervous System Diseases
C0751340 BXGD010395 Myasthenia Gravis, Ocular Neoplasms; Immune System 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
C0947912 BXGD011497 Myasthenias Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0948008 BXGD011499 Ischemic stroke Nervous System Diseases; Cardiovascular Diseases
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1269683 BXGD012001 Major Depressive Disorder Mental Disorders
C1270972 BXGD012006 Mild cognitive disorder Mental Disorders
C1276035 BXGD012100 Pena-Shokeir syndrome type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1389113 BXGD012965 Generalized amyotrophy
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1611743 BXGD013456 Familial (FPAH)
C1833144 BXGD013898 Slender long bone
C1834536 BXGD013977 Weakness of the intrinsic hand muscles
C1836542 BXGD014129 Depressed nasal bridge
C1837091 BXGD014196 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1837092 BXGD014197 Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1837098 BXGD014198 Easy fatigability
C1837404 BXGD014229 High, narrow palate
C1837482 BXGD014237 Thoracic hypoplasia
C1837658 BXGD014257 Gross motor development delay Mental Disorders
C1840380 BXGD014460 Persistent cavum septum pellucidum
C1843637 BXGD014597 Neck flexor weakness
C1853952 BXGD015371 Decreased miniature endplate potentials
C1854387 BXGD015396 Type 1 muscle fiber predominance
C1859717 BXGD015924 Depressed nasal tip
C1865014 BXGD016282 Long philtrum
C1865916 BXGD016355 Bilateral ptosis Eye Diseases
C1866934 BXGD016427 Reduced tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1868193 BXGD016493 PNEUMOTHORAX, PRIMARY SPONTANEOUS
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C2228039 BXGD016957 Ankle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C2230441 BXGD016958 Triceps weakness
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2830004 BXGD017804 Somnolence Pathological Conditions, Signs and Symptoms
C3277226 BXGD018711 Restrictive ventilatory defect
C3279725 BXGD018774 Hip flexor weakness
C4015465 BXGD020208 Thoracic kyphoscoliosis
C4020847 BXGD020486 Abnormality of pelvic girdle bone morphology
C4020869 BXGD020489 Abnormality of abdomen morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C4021262 BXGD020603 Absent palmar crease
C4021640 BXGD020713 Intestinal hypoplasia
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4021728 BXGD020737 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
C4022584 BXGD020925 Fatigable weakness of neck muscles
C4022587 BXGD020928 Fatigable weakness of respiratory muscles
C4024601 BXGD021334 Weakness of long finger extensor muscles
C4025615 BXGD021696 Decreased size of nerve terminals
C4048199 BXGD021893 Ulnar deviation of the hand or of fingers of the hand
C4073190 BXGD022064 Abnormality of masticatory muscle
C4225368 BXGD022244 MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0012352 Chelerythrine 348.12
BXGC0044857 Sp-600125 220.06
BXGC0045254 Sb-202190 331.11
BXGC0047692 Gefitinib 446.15
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