TBX4 - T-box transcription factor 4 Gene

Also Known as SPS; ICPPS; PAPPAS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9496

About TBX4

Cytogenetic location: 17q23.2 Genomic coordinates (GRCh38): 17:61,452,422-61,485,110 (from NCBI)

This gene has 8 transcripts (splice variants), 227 orthologues, 16 paralogues and is associated with 8 phenotypes. Biased expression in lung (RPKM 16.7), placenta (RPKM 12.0) and 2 other tissues.

Summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]

TBX4 Products (2)

mRNA	Protein	Name
NM_001321120.2	NP_001308049.1	T-box transcription factor TBX4 isoform 1
NM_018488.3	NP_060958.2	T-box transcription factor TBX4 isoform 2

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in embryonic hindlimb morphogenesis	IMP IMP: Inferred from mutant phenotype	31761294	GOA
involved in embryonic lung development	IMP IMP: Inferred from mutant phenotype	31761294	GOA
involved in limb morphogenesis	IMP IMP: Inferred from mutant phenotype	15106123	GOA
involved in skeletal system morphogenesis	IMP IMP: Inferred from mutant phenotype	15106123	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBX4 Protein Structure

T-box

0
100
200
300
400
500
545 a.a.

Protein Preferred Names	Protein Names
T-box transcription factor TBX4	T-box 4

Related Diseases

Diseases	Alias
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Small Patella Syndrome Ischiopatellar Dysplasia Coxopodopatellar Syndrome Scott-Taor Syndrome Sps Ischiocoxopodopatellar Syndrome Patella Aplasia, Coxa Vara, And Tarsal Synostosis ICPPS Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis Coxo-Podo-Patellar Syndrome Patella Aplasia, Coxa Vara, Tarsal Synostosis Coxopodipatellar Syndrome
Amelia, Posterior, With Pelvic And Pulmonary Hypoplasia Syndrome	Autosomal Recessive Amelia PAPPAS Amelia, Autosomal Recessive
Sacral Defect With Anterior Meningocele	Caudal Regression Syndrome Caudal Regression Sequence Sacral Agenesis Caudal Dysgenesis Syndrome SDAM Caudal Dysplasia Sequence Caudal Dysplasia Sacral Agenesis Syndrome Sacral Regression Syndrome Sacral Defect And Anterior Sacral Meningocele Rudd Klimek Syndrome Sirenomelia
Hydronephrosis	Stricture Of Ureteropelvic Junction With Hydronephrosis Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Pulmonary Hypertension, Primary, 1	Pulmonary Arterial Hypertension Pah Idiopathic Pulmonary Arterial Hypertension Idiopathic Pulmonary Hypertension Primary Pulmonary Hypertension PPH1 Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht Pph Familial Primary Pulmonary Hypertension Sporadic Primary Pulmonary Hypertension Pht Fpah Familial Pulmonary Arterial Hypertension Hereditary Pulmonary Arterial Hypertension Heritable Pulmonary Arterial Hypertension Ayerza Syndrome Fpph Ppht Ipah Primary Pulmonary Arterial Hypertension Pulmonary Hypertension, Familial Primary Hypertension, Pulmonary, Primary, Type 1 Ayerza'S Syndrome Pah - [Pulmonary Arterial Hypertension] Arrillaga Ayerza Syndrome
Heritable Pulmonary Arterial Hypertension	Fpah Familial Pulmonary Arterial Hypertension Hpah Hereditary Pulmonary Arterial Hypertension Familial Primary Pulmonary Hypertension
Chromosome 17q23.1-Q23.2 Deletion Syndrome	17q23.1q23.2 Microdeletion Syndrome 17q23.1-Q23.2 Microdeletion Syndrome Del(17)(Q23.1q23.2) Monosomy 17q23.1q23.2 Monosomy 17q23.1-Q23.2
Pulmonary Hypoplasia, Primary	Pulmonary Agenesis Lung Agenesis Primary Pulmonary Hypoplasia Congenital Absence Of Lung Congenital Lung Agenesis Unilateral Lobar Pulmonary Agenesis Unilateral Lung Agenesis Absence Of Lung Aplasia Of Lung Apulmonism Congenital Aplasia Of Lung Agenesis Of Lobe Of Lung Absence Of Lobe Of Lung Congenital Absence Of Lobe Of Lung
Pulmonary Hypoplasia, Familial Primary	Familial Primary Pulmonary Hypoplasia
Chromosome 17q23.1-Q23.2 Duplication Syndrome	Familial Clubfoot Due To 17q23.1q23.2 Microduplication Hereditary Clubfoot Due To 17q23.1-Q23.2 Microduplication
Amelia
Pulmonary Arterial Hypertension Associated With Congenital Heart Disease	Pah Associated With Congenital Heart Disease
Campomelic Dysplasia	Acampomelic Campomelic Dysplasia Camptomelic Dysplasia Campomelic Dysplasia With Autosomal Sex Reversal Cmpd CMD1 Cmpd1 Cmpd1/Sra1 Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal Campomelic Dwarfism Campomelic Syndrome Dysplasia, Campomelic Chronic Myeloproliferative Disorder Familial Dilated Cardiomyopathy
Tracheomalacia	Congenital Tracheomalacia Congenital Major Airway Collapse Tracheomalacia, Congenital Type 1 Tracheomalacia
Tracheal Disease	Tracheal Diseases Tracheal Anomaly Tracheal Disorders
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Exudative Vitreoretinopathy 7	EVR7 Vitreoretinopathy, Exudative 7 Vitreoretinopathy Exudative, Type 7
Lipid Pneumonia	Exogenous Lipoid Pneumonia Lipoid Pneumonitis Pneumonia, Lipid Pneumonia Lipid Lipoid Pneumonia
Pulmonary Venoocclusive Disease	Pulmonary Veno-Occlusive Disease Obstructive Disease Of The Pulmonary Veins Pvod Isolated Pulmonary Venous Sclerosis Venous Form Of Primary Pulmonary Hypertension Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Ulnar-Mammary Syndrome	Schinzel Syndrome UMS Pallister Ulnar-Mammary Syndrome Ulnar-Mammary Syndrome Of Pallister
Pulmonary Hypertension	Primary Pulmonary Hypertension Hypertension Pulmonary Hypertension, Pulmonary Hypertension, Pulmonary, Primary Idiopathic Pulmonary Hypertension Idiopathic Pulmonary Arterial Hypertension Pulmonary Htn - [Hypertension]
Lacrimoauriculodentodigital Syndrome	Ladd Syndrome Levy-Hollister Syndrome Lacrimo-Auriculo-Dento-Digital Syndrome LADD Lacrimoauriculodento-Digital Syndrome Levy Hollister Syndrome Lard Syndrome Lacrimoauriculoradiodental Syndrome LADDS Congenital Duodenal Obstruction Due To Malrotation Of Intestine
Tracheal Stenosis	Stenosis Of Trachea
Neonatal Respiratory Failure	Respiratory Failure Of Newborn Inadequate Pulmonary Ventilation Of Newborn Newborn Lung Insufficiency Newborn Pulmonary Function Inadequate Newborn Pulmonary Insufficiency Newborn Respiration Failure Newborn Respiratory Insufficiency Respiratory Insufficiency Syndrome Of Newborn
Holt-Oram Syndrome	HOS Atriodigital Dysplasia Heart-Hand Syndrome Atrio-Digital Syndrome Cardiac-Limb Syndrome Heart-Hand Syndrome, Type 1 Ventriculo-Radial Syndrome Hos1 Heart Hand Syndrome Atrio Digital Syndrome Hos 1 Atriodigital Dysplasia Type 1 Heart-Hand Syndrome Type 1 Holt Oram Syndrome
Vertical Talus, Congenital	Congenital Vertical Talus CVT Congenital Convex Pes Valgus Rocker-Bottom Foot Deformity Vertical Talus Pes Valgus, Congenital Convex Congenital Convex Foot Congenital Rocker-Bottom Foot Rocker Bottom Foot Flatfoot Rocker-Bottom Foot Charcot-Marie-Tooth Disease, Foot Deformity Of
Aplasia Of Lacrimal And Salivary Glands	ALSG Congenital Absence Of Lacrimal Puncta And Salivary Glands Xerostomia Absence Of Salivary Glands Parotid Aplasia Or Hypoplasia Congenital Absence Of Lacrimal Puncta Or Salivary Glands Alsg - [Aplasia Of Lacrimal Or Salivary Glands]
Pulmonary Interstitial Emphysema
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Osmed Otospondylomegaepiphyseal Dysplasia Chondrodystrophy With Sensorineural Deafness Nance-Insley Syndrome Nance-Sweeney Chondrodysplasia OSMEDB Insley-Astley Syndrome Osmed Syndrome Mega-Epiphyseal Dwarfism Weissenbacher-Zweymuller Syndrome, Formerly Wzs, Formerly Nance Sweeney Chondrodysplasia Oto-Spondylo-Mega-Epiphyseal Dysplasia Oto-Spondylo-Megaepiphyseal Dysplasia Megaepiphyseal Dwarfism
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Arthrogryposis, Distal, Type 10	DA10 Distal Arthrogryposis Type 10 Short Achilles Tendon Plantar Flexion Contracture Short Tendo Calcaneus Congenital Plantar Contractures Tendo Calcaneus, Short
Aspiration Pneumonitis	Chemical Pneumonitis Mendelson'S Syndrome Aspiration Pneumonia Pneumonitis Due To Fumes And/Or Vapors Toxic Pneumonitis Mendelson'S Syndrome Resulting From A Procedure Mendelson Syndrome Resulting From A Procedure Pulmonary Acid Aspiration Syndrome Pneumonitis Due To Inhalation Of Gastric Secretions Mendelson Syndrome Due To Anaesthesia During Labour And Delivery Inhalation Of Stomach Contents Or Secretions, Nos Due To Anaesthesia During Labour And Delivery
Bone Development Disease
Hereditary Hemorrhagic Telangiectasia	Rendu-Osler-Weber Disease Hht Osler-Weber-Rendu Disease Telangiectasia, Hereditary Hemorrhagic Osler Hemorrhagic Telangiectasia Syndrome Orw Disease Osler Weber Rendu Syndrome Osler-Rendu-Weber Disease Osler-Weber-Rendu Syndrome Rendu-Osler Disease Telangiectasia Hereditary Hemorrhagic Telangiectasia Hemorrhagic, Hereditary Hht - [Hereditary Haemorrhagic Telangiectasia] Osler Haemorrhagic Telangiectasia Syndrome
Esophageal Atresia	Tracheoesophageal Fistula Congenital Atresia Of Esophagus Congenital Imperforate Esophagus Imperforate Esophagus Oesophageal Atresia Te Fistula Tef Tracheoesophageal Fistula With Or Without Esophageal Atresia
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14280	TBX4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TBX4	VGNC	VGNC:78274
Canis familiaris	TBX4	VGNC	VGNC:47175
Rattus norvegicus	TBX4	RGD	RGD:1309057
Mus musculus	TBX4	MGD	MGI:102556
Bos taurus	TBX4	VGNC	VGNC:35670
Felis catus	TBX4	VGNC	VGNC:66007