Showing entry for T-box transcription factor TBX5


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019939
Protein NameT-box transcription factor TBX5
Uniport IdQ99593
GeneTBX5
Gene Id6910
DomainT-box
Pfam PF00907  
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:0060413 atrial septum morphogenesis
Biological Process GO:0003181 atrioventricular valve morphogenesis
Biological Process GO:0003166 bundle of His development
Biological Process GO:0003218 cardiac left ventricle formation
Biological Process GO:0055007 cardiac muscle cell differentiation
Biological Process GO:0007267 cell-cell signaling
Biological Process GO:0001708 cell fate specification
Biological Process GO:0060980 cell migration involved in coronary vasculogenesis
Biological Process GO:0035115 embryonic forelimb morphogenesis
Biological Process GO:0030326 embryonic limb morphogenesis
Biological Process GO:0003197 endocardial cushion development
Biological Process GO:0035136 forelimb morphogenesis
Biological Process GO:0007507 heart development
Biological Process GO:0030324 lung development
Biological Process GO:0002009 morphogenesis of an epithelium
Biological Process GO:0060044 negative regulation of cardiac muscle cell proliferation
Biological Process GO:0030336 negative regulation of cell migration
Biological Process GO:0008285 negative regulation of cell population proliferation
Biological Process GO:0010719 negative regulation of epithelial to mesenchymal transition
Biological Process GO:0000122 negative regulation of transcription by RNA polymerase II
Biological Process GO:0007389 pattern specification process
Biological Process GO:0060039 pericardium development
Biological Process GO:0060045 positive regulation of cardiac muscle cell proliferation
Biological Process GO:0051891 positive regulation of cardioblast differentiation
Biological Process GO:0072513 positive regulation of secondary heart field cardioblast proliferation
Biological Process GO:0045893 positive regulation of transcription, DNA-templated
Biological Process GO:0045944 positive regulation of transcription by RNA polymerase II
Biological Process GO:0006367 transcription initiation from RNA polymerase II promoter
Biological Process GO:0003281 ventricular septum development
molecular function GO:0003677 DNA binding
molecular function GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
molecular function GO:0003700 DNA-binding transcription factor activity
molecular function GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
molecular function GO:0001102 RNA polymerase II activating transcription factor binding
molecular function GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
molecular function GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
molecular function GO:0043565 sequence-specific DNA binding
molecular function GO:0008134 transcription factor binding
cellular component GO:0005737 cytoplasm
cellular component GO:0000790 nuclear chromatin
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
cellular component GO:0032991 protein-containing complex
cellular component GO:0032993 protein-DNA complex
Reactome
Pathway Id Pathway Name
R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression
R-HSA-212436 Generic Transcription Pathway
R-HSA-397014 Muscle contraction
R-HSA-5576891 Cardiac conduction
R-HSA-5578768 Physiological factors
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0002893 BXGD000150 Refractory anemias Hemic and Lymphatic Diseases
C0003492 BXGD000198 Aortic coarctation Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0003811 BXGD000222 Cardiac Arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0003864 BXGD000231 Arthritis Musculoskeletal Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0004238 BXGD000262 Atrial Fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0004245 BXGD000264 Atrioventricular Block Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0004763 BXGD000289 Barrett Esophagus Digestive System Diseases; Neoplasms
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007103 BXGD000426 Malignant neoplasm of endometrium Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0009375 BXGD000602 Colonic Neoplasms Digestive System Diseases; Neoplasms
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0010054 BXGD000647 Coronary Arteriosclerosis Cardiovascular Diseases
C0010068 BXGD000648 Coronary heart disease Cardiovascular Diseases
C0011570 BXGD000729 Mental Depression Behavior and Behavior Mechanisms
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0012236 BXGD000772 DiGeorge Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0013274 BXGD000809 Patent ductus arteriosus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0014116 BXGD000892 Endocardial Cushion Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0016057 BXGD001042 Fibrosarcoma Neoplasms
C0016842 BXGD001083 Congenital pectus excavatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0018566 BXGD001205 Congenital Hand Deformities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0018798 BXGD001223 Congenital Heart Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018799 BXGD001224 Heart Diseases Cardiovascular Diseases
C0018803 BXGD001228 Heart Function Tests
C0018816 BXGD001234 Heart Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023470 BXGD001659 Myeloid Leukemia Neoplasms
C0026266 BXGD001895 Mitral Valve Insufficiency Cardiovascular Diseases
C0026277 BXGD001899 Mixed Salivary Gland Tumor Neoplasms
C0026499 BXGD001905 Monosomy Pathological Conditions, Signs and Symptoms
C0027051 BXGD001963 Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0031192 BXGD002294 Persistent Ostium Primum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0031575 BXGD002308 Phocomelia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0035335 BXGD002540 Retinoblastoma Neoplasms; Eye Diseases
C0035344 BXGD002541 Retinopathy of Prematurity Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0039685 BXGD002825 Tetralogy of Fallot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0040583 BXGD002878 Tracheal Stenosis Respiratory Tract Diseases
C0042769 BXGD002999 Virus Diseases Infections
C0085614 BXGD003205 First degree atrioventricular block Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0149925 BXGD003387 Small cell carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0151846 BXGD003485 Periosteal Disorder Musculoskeletal Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152018 BXGD003518 Esophageal carcinoma Digestive System Diseases; Neoplasms
C0152021 BXGD003520 Congenital heart disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0152101 BXGD003540 Hypoplastic Left Heart Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0152427 BXGD003590 Polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0152438 BXGD003592 Sprengel deformity Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0153676 BXGD003679 Secondary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0155626 BXGD003806 Acute myocardial infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0158761 BXGD003905 Radioulnar Synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0202236 BXGD004086 Triglycerides measurement
C0206762 BXGD004290 Limb Deformities, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0220704 BXGD004327 Shprintzen syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0220810 BXGD004346 Congenital defects
C0221352 BXGD004444 Syndactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0221373 BXGD004454 Claw hand Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0235480 BXGD004751 Paroxysmal atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0235833 BXGD004775 Congenital diaphragmatic hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0239337 BXGD004978 Deformity of limb
C0241391 BXGD005093 Thumb absent
C0241397 BXGD005095 Triphalangeal thumb Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0243002 BXGD005208 Tricuspid Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0265239 BXGD005477 Wildervanck's syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
C0265246 BXGD005480 Townes syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0265264 BXGD005490 Holt-Oram syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
C0265559 BXGD005549 Acheiropodia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265610 BXGD005555 Clinodactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265783 BXGD005575 Congenital hypoplasia of lung Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0278512 BXGD006528 Metastatic osteosarcoma Neoplasms
C0278595 BXGD006545 Adult Fibrosarcoma Neoplasms
C0279628 BXGD006659 Adenocarcinoma Of Esophagus Digestive System Diseases; Neoplasms
C0302142 BXGD006831 Deformity Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0340489 BXGD007336 Lone atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0344315 BXGD007666 Depressed mood Behavior and Behavior Mechanisms
C0344724 BXGD007701 Ostium secundum atrial septal defect Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0392514 BXGD008051 Hereditary hemochromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0426799 BXGD008578 Congenital hypoplasia of clavicle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0426807 BXGD008581 Short clavicle
C0426891 BXGD008595 Broad thumbs
C0429021 BXGD008645 P wave duration (observable entity)
C0429028 BXGD008646 QT interval feature (observable entity)
C0429087 BXGD008647 Electrocardiogram: P-R interval
C0429097 BXGD008648 QRS complex feature
C0431109 BXGD008658 Choroid Plexus Carcinoma Neoplasms; Nervous System Diseases
C0476089 BXGD008977 Endometrial Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0524620 BXGD009236 Metabolic Syndrome X Nutritional and Metabolic Diseases
C0553580 BXGD009399 Ewings sarcoma Neoplasms
C0557874 BXGD009444 Global developmental delay
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0677932 BXGD009736 Progressive Neoplastic Disease
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0740404 BXGD009991 Limb defects
C0741916 BXGD010044 Cardiac defects
C0871470 BXGD011316 Systolic Pressure
C1142166 BXGD011736 Brugada Syndrome (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1266184 BXGD011991 Atypical Teratoid Rhabdoid Tumor Neoplasms
C1269955 BXGD012005 Tumor Cell Invasion
C1275122 BXGD012060 Familial multiple trichoepitheliomata Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1321551 BXGD012436 Shprintzen-Goldberg syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1368683 BXGD012900 Epithelioma Neoplasms
C1389016 BXGD012962 ATRIOVENTRICULAR CANAL DEFECT Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1389018 BXGD012963 Atrioventricular Septal Defect Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1449563 BXGD013086 Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases
C1560249 BXGD013361 Adverse Event Associated with Cardiac Arrhythmia
C1611743 BXGD013456 Familial (FPAH)
C1832117 BXGD013798 Short humerus
C1834129 BXGD013957 Abnormal vertebral morphology
C1840535 BXGD014475 Abnormality of the carpal bones Musculoskeletal Diseases
C1842083 BXGD014494 Abnormality of the ribs
C1846474 BXGD014821 Small thenar eminence
C1856872 BXGD015647 Down-sloping shoulders
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
C1857790 BXGD015748 Thoracic scoliosis Musculoskeletal Diseases
C1862389 BXGD016126 ATRIAL SEPTAL DEFECT 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1866994 BXGD016431 Ulnar-mammary syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C1867103 BXGD016438 Limited elbow extension
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2347613 BXGD017039 Childhood Atypical Teratoid/Rhabdoid Tumor
C2585653 BXGD017139 Persistent atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C2749463 BXGD017620 Aplasia/Hypoplasia of the radius
C3179508 BXGD018554 Aplasia/Hypoplasia of the thumb Musculoskeletal Diseases
C3241958 BXGD018580 Myocardial Disorder Cardiovascular Diseases
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3278811 BXGD018746 Thumb aplasia Musculoskeletal Diseases
C3468561 BXGD018908 familial atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C3495549 BXGD018991 Patent ductus arteriosus - persisting type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases
C3539781 BXGD019086 Progressive cGVHD
C3542024 BXGD019102 AORTIC VALVE DISEASE 2
C3714796 BXGD019434 Isolated somatotropin deficiency
C3715208 BXGD019451 AV Block First Degree by ECG Finding Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C3805326 BXGD019475 Congenital heart disease (variable)
C3874346 BXGD019864 Skeletal malocclusion Stomatognathic Diseases
C4021742 BXGD020750 Abnormality of the humerus
C4021785 BXGD020778 Abnormality of the metacarpal bones Musculoskeletal Diseases
C4021792 BXGD020783 Abnormality of the clavicle
C4023124 BXGD021118 Short digit
C4024213 BXGD021304 Aplasia of the pectoralis major muscle
C4025756 BXGD021778 Abnormal aortic morphology
C4050064 BXGD021958 ROSE Cluster 5
C4082168 BXGD022083 Partial duplication of thumb phalanx
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4228778 BXGD022292 Abnormality of radial ray
C4551504 BXGD023324 Oculocutaneous albinism type 1A Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
C4551905 BXGD023438 Pulmonary Venous Return Anomaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases
C4554010 BXGD023556 Isomerism (body) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
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