TBX3 - T-box transcription factor 3 Gene

Homo sapiens

Also known as UMS; XHL; TBX3-ISO

Gene ID: 6926 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14279	TBX3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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