TBX3 - T-box transcription factor 3 Gene

Also Known as UMS; XHL; TBX3-ISO

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6926

About TBX3

Cytogenetic location: 12q24.21 Genomic coordinates (GRCh38): 12:114,670,255-114,684,175 (from NCBI)

This gene has 4 transcripts (splice variants), 236 orthologues, 16 paralogues and is associated with 87 phenotypes. Biased expression in adrenal (RPKM 89.8), prostate (RPKM 51.1) and 11 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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

TBX3 Products (2)

mRNA	Protein	Name
NM_005996.4	NP_005987.3	T-box transcription factor TBX3 isoform 1
NM_016569.4	NP_057653.3	T-box transcription factor TBX3 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	22130515	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11689487	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11689487	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22002537	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11689487	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within animal organ morphogenesis	IDA IDA: Inferred from direct assay	9207801	GOA
involved in anterior/posterior axis specification, embryo	IMP IMP: Inferred from mutant phenotype	9207801	GOA
involved in cardiac epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	22130515	GOA
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 embryonic digit morphogenesis	IMP IMP: Inferred from mutant phenotype	9207801	GOA
involved in embryonic forelimb morphogenesis	IMP IMP: Inferred from mutant phenotype	12116211	GOA
involved in endocardial cushion formation	IMP IMP: Inferred from mutant phenotype	22130515	GOA
involved in female genitalia development	IMP IMP: Inferred from mutant phenotype	12116211	GOA
involved in follicle-stimulating hormone secretion	IMP IMP: Inferred from mutant phenotype	12116211	GOA
acts upstream of or within forelimb morphogenesis	IDA IDA: Inferred from direct assay	9207801	GOA
involved in luteinizing hormone secretion	IMP IMP: Inferred from mutant phenotype	12116211	GOA
involved in male genitalia development	IMP IMP: Inferred from mutant phenotype	12116211	GOA
involved in mammary gland development	IMP IMP: Inferred from mutant phenotype	12116211	GOA
involved in mesoderm morphogenesis	IMP IMP: Inferred from mutant phenotype	9207801	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10468588	GOA
involved in negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	12032820	GOA
involved in negative regulation of cell proliferation involved in heart morphogenesis	IMP IMP: Inferred from mutant phenotype	22130515	GOA
involved in negative regulation of myoblast differentiation	IDA IDA: Inferred from direct assay	12032820	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11689487	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	12000749	GOA
involved in positive regulation of cell cycle	IDA IDA: Inferred from direct assay	12032820	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	12032820	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	22130515	GOA
involved in sinoatrial node cell development	IDA IDA: Inferred from direct assay	22130515	GOA
involved in skeletal system development	IMP IMP: Inferred from mutant phenotype	9207801	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	11689487	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

TBX3 Protein Structure

T-box

TBX

0
200
400
600
743 a.a.

Protein Preferred Names	Protein Names
T-box transcription factor TBX3	T-box 3

TBX3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TBX3	O15119	UFSP1	Homo sapiens	Q6NVU6	Validated Y2H	32296183
Intra	TBX3	O15119	UFSP1	Homo sapiens	Q6NVU6	Y2H Array	32296183
Intra	TBX3	O15119	UFSP1	Homo sapiens	Q6NVU6	Y2H Prey Pooling	32296183
Intra	TBX3	O15119	PRR20D	Homo sapiens	P86480	Y2H Array	32296183
Intra	TBX3	O15119	PRR20D	Homo sapiens	P86480	Y2H Prey Pooling	32296183
Intra	TBX3	O15119	PRR20D	Homo sapiens	P86480	Validated Y2H	32296183
Intra	TBX3	O15119	CSF3	Homo sapiens	Q8N4W3	Y2H Prey Pooling	32296183
Intra	TBX3	O15119	CSF3	Homo sapiens	Q8N4W3	Validated Y2H	32296183
Intra	TBX3	O15119	CSF3	Homo sapiens	Q8N4W3	Y2H Array	32296183
Intra	TBX3	O15119	PFDN5	Homo sapiens	Q99471	Y2H Prey Pooling	32296183
Intra	TBX3	O15119	PFDN5	Homo sapiens	Q99471	Validated Y2H	32296183
Intra	TBX3	O15119	PFDN5	Homo sapiens	Q99471	Y2H Array	32296183
Intra	TBX3	O15119	TLE5	Homo sapiens	Q08117	Validated Y2H	25416956
Intra	TBX3	O15119	TLE5	Homo sapiens	Q08117	Y2H Array	25416956
Intra	TBX3	O15119	CA8	Homo sapiens	P35219	Validated Y2H	25416956
Intra	TBX3	O15119	CA8	Homo sapiens	P35219	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

TBX3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82409	T Box Protein 3 Antibody (YA2154)	WB, IP	Mouse
HY-P82409A	T Box Protein 3 Antibody (YA2154)(PBS only)	WB, IP	Mouse

Related Diseases

Diseases	Alias
Ulnar-Mammary Syndrome	Schinzel Syndrome UMS Pallister Ulnar-Mammary Syndrome Ulnar-Mammary Syndrome Of Pallister
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
Luminal Breast Carcinoma B	Luminal B Breast Carcinoma
Partial Trisomy Distal 4q	Distal Trisomy 4q Chromosome 4, Partial Trisomy 4q Distal 4q Trisomy Dup Syndrome, Partial Duplication 4q Syndrome, Partial Partial Trisomy 4q Syndrome Distal Duplication 4q Telomeric Duplication 4q Trisomy 4qter
Digeorge Syndrome	Chromosome 22q11.2 Deletion Syndrome DGS Hypoplasia Of Thymus And Parathyroids Third And Fourth Pharyngeal Pouch Syndrome 22q11.2 Deletion Syndrome Digeorge Sequence Digeorge'S Syndrome Pharyngeal Pouch Syndrome Di-George Syndrome Shprintzen Syndrome
Pyometritis
Sinoatrial Node Disease	Sa Node Sinuatrial Node Sinus Node Dysfunction
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Sick Sinus Syndrome	Sinus Node Dysfunction Sinus Node Disease Sinus Node Infection Snd Sss Snd - [Sinus Node Dysfunction] Sinoatrial Node Dysfunction Sss - [Sick Sinus Syndrome] Sick Sinus Sick Sinus Tachycardia
Acheiropody	Acheiropodia ACHP Acheiropody, Brazilian Type Horn-Kolb Syndrome Horn Kolb Syndrome Acheiropody Brazilian Type
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia ANKG 'Tongue-Tie' Tongue-Tie Tongue Tie Aberrant Insertion Of Labial Frenulum Aberrant Insertion Of Frenum Of Tongue Short Frenulum Linguae Short Frenulum Of Tongue
Breast Lobular Carcinoma	Cancer, Breast, Lobular Lobular Breast Carcinoma
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
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
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
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
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
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death 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
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]
Orofacial Cleft	Cleft, Orofacial

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14279	TBX3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20344	Tbx3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26853	Tbx3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TBX3	VGNC	VGNC:107727
Bos taurus	TBX3	VGNC	VGNC:53924
Macaca mulatta	TBX3	VGNC	VGNC:78273
Mus musculus	TBX3	MGD	MGI:98495
Rattus norvegicus	TBX3	RGD	RGD:735203
Canis familiaris	TBX3	VGNC	VGNC:47174
Others	TBX3	NCBI