TBX2 - T-box transcription factor 2 Gene

Also Known as VETD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6909

About TBX2

Cytogenetic location: 17q23.2 Genomic coordinates (GRCh38): 17:61,399,843-61,409,466 (from NCBI)

This gene has 4 transcripts (splice variants), 300 orthologues, 16 paralogues and is associated with 1 phenotype. Broad expression in lung (RPKM 27.4), placenta (RPKM 24.9) and 18 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 product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]

TBX2 Products (1)

mRNA	Protein	Name
NM_005994.4	NP_005985.3	T-box transcription factor TBX2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11111039	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11111039	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22002537	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11111039	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cardiac jelly development	IMP IMP: Inferred from mutant phenotype	22130515	GOA
involved in cellular senescence	IDA IDA: Inferred from direct assay	11748239	GOA
involved in endocardial cushion formation	IMP IMP: Inferred from mutant phenotype	22130515	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10468588	GOA
involved in negative regulation of cellular senescence	IDA IDA: Inferred from direct assay	11062467	GOA
involved in negative regulation of cellular senescence	IMP IMP: Inferred from mutant phenotype	12000749	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11062467	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	12000749	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in nucleus	IDA IDA: Inferred from direct assay	15042700	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

TBX2 Protein Structure

T-box

TBX

0
200
400
600
712 a.a.

Protein Preferred Names	Protein Names
T-box transcription factor TBX2	T-box 2

TBX2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	TBX2	Q13207	KRTAP6-3	Homo sapiens	Q3LI67	Y2H Prey Pooling	32296183
Intra	TBX2	Q13207	KRTAP6-3	Homo sapiens	Q3LI67	Y2H Array	32296183
Intra	TBX2	Q13207	PML	Homo sapiens	P29590	Anti Bait CoIP	22002537
Intra	TBX2	Q13207	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	TBX2	Q13207	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	TBX2	Q13207	CIDEB	Homo sapiens	Q9UHD4	Validated Y2H	32296183
Intra	TBX2	Q13207	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
Intra	TBX2	Q13207	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183
Intra	TBX2	Q13207	CNOT2	Homo sapiens	Q9NZN8	Validated Y2H	32296183
Intra	TBX2	Q13207	TTC19	Homo sapiens	Q6DKK2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	VETD Heterozygotes For Tbx2 Variants
Ulnar-Mammary Syndrome	Schinzel Syndrome UMS Pallister Ulnar-Mammary Syndrome Ulnar-Mammary Syndrome Of Pallister
Pulmonary Valve Stenosis	Valvular Pulmonary Stenosis Heart Valve Pulmonary Stenosis Valvar Pulmonary Stenosis Valvate Pulmonary Stenosis Pulmonary Stenosis Pulmonary Valve Stricture Pulmonic Valve Stenosis Ps - [Pulmonary Valve Stenosis] Pvs - [Pulmonary Valve Stenosis] Pulmonary Valvular Stricture Pulmonary Valvular Stenosis Pulmonary Valvular Obstruction Pulmonary Valve Obstruction Obstructed Pulmonary Valve
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
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
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
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
Hypoplastic Right Heart Syndrome	Right Hypoplastic Heart Syndrome
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Acromesomelic Dysplasia 2b	Fibular Hypoplasia And Complex Brachydactyly Du Pan Syndrome AMD2B Dupans Acromesomelic Dysplasia-2b Fibular Aplasia-Complex Brachydactyly Syndrome
T-Cell Immunodeficiency With Thymic Aplasia	Nezelof Syndrome T-Lymphocyte Deficiency TIDTA Immune Defect Due To Absence Of Thymus Thymic Aplasia Nezelof'S Syndrome Thymic Dysplasia With Normal Immunoglobulins Thymic Aplasia Syndrome T-Lymphocyte Immunodeficiency
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Rhabdomyosarcoma
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Pattern Wpw Syndrome Anomalous Atrioventricular Excitation Anomalous A-V Excitation Ventricular Pre-Excitation With Arrhythmia WPWS Ventricular Familial Preexcitation Syndrome Preexcitation Syndrome Ventricular Preexcitation Wpw - [Wolff-Parkinson- White] Syndrome Pre-Excitation Syndrome
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
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
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
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
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
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

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 (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS14275	TBX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22339	Tbx2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28861	Tbx2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TBX2	VGNC	VGNC:66003
Rattus norvegicus	TBX2	RGD	RGD:1311014
Canis familiaris	TBX2	VGNC	VGNC:47171
Mus musculus	TBX2	MGD	MGI:98494
Macaca mulatta	TBX2	VGNC	VGNC:104663
Bos taurus	TBX2	VGNC	VGNC:35666
Others	TBX2	NCBI