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TBX3

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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
T-box 3	MIM:601621	Ensembl:ENSG00000135111	HGNC:HGNC:11602	PA36365	12q24.21

Gene Categories:

TUMOR SUPPRESSOR TRANSCRIPTION FACTOR BINDING CLINICALLY ACTIONABLE

GO terms in TBX3

Term Type	Evidence Type	GO Term ID	GO Des.
MF	IDA	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding
MF	ISA	GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF	ISM	GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF	NAS	GO:0000981	RNA polymerase II transcription factor activity, sequence-specific DNA binding
MF	IDA	GO:0001078	transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding
MF	ISS	GO:0001085	RNA polymerase II transcription factor binding
MF	ISS	GO:0001102	RNA polymerase II activating transcription factor binding
MF	IPI	GO:0005515	protein binding
MF	IDA	GO:0043565	sequence-specific DNA binding
CC	IDA	GO:0005634	nucleus
BP	IDA	GO:0000122	negative regulation of transcription by RNA polymerase II
BP	IMP	GO:0001501	skeletal system development
BP	IEA	GO:0001568	blood vessel development
BP	IEA	GO:0001701	in utero embryonic development
BP	IEA	GO:0001947	heart looping
BP	IEA	GO:0003151	outflow tract morphogenesis
BP	IEA	GO:0003167	atrioventricular bundle cell differentiation
BP	IEA	GO:0006351	transcription, DNA-templated
BP	TAS	GO:0006357	regulation of transcription by RNA polymerase II
BP	IDA	GO:0007569	cell aging
BP	IDA	GO:0008284	positive regulation of cell proliferation
BP	IMP	GO:0008595	anterior/posterior axis specification, embryo
BP	IDA	GO:0009887	animal organ morphogenesis
BP	IEA	GO:0010159	specification of animal organ position
BP	IEA	GO:0019827	stem cell population maintenance
BP	IEA	GO:0021761	limbic system development
BP	IMP	GO:0030539	male genitalia development
BP	IMP	GO:0030540	female genitalia development
BP	IEA	GO:0030857	negative regulation of epithelial cell differentiation
BP	IMP	GO:0030879	mammary gland development
BP	IMP	GO:0032275	luteinizing hormone secretion
BP	IMP	GO:0035115	embryonic forelimb morphogenesis
BP	IEA	GO:0035116	embryonic hindlimb morphogenesis
BP	IDA	GO:0035136	forelimb morphogenesis
BP	IMP	GO:0042733	embryonic digit morphogenesis
BP	IDA	GO:0043066	negative regulation of apoptotic process
BP	IDA	GO:0045662	negative regulation of myoblast differentiation
BP	IDA	GO:0045787	positive regulation of cell cycle
BP	IDA	GO:0045892	negative regulation of transcription, DNA-templated
BP	IEA	GO:0045893	positive regulation of transcription, DNA-templated
BP	IMP	GO:0046884	follicle-stimulating hormone secretion
BP	IMP	GO:0048332	mesoderm morphogenesis
BP	IEA	GO:0060021	roof of mouth development
BP	IEA	GO:0060412	ventricular septum morphogenesis
BP	IEA	GO:0060444	branching involved in mammary gland duct morphogenesis
BP	IEA	GO:0060596	mammary placode formation
BP	IEA	GO:0060923	cardiac muscle cell fate commitment
BP	IEA	GO:0060931	sinoatrial node cell development
BP	IDA	GO:0090398	cellular senescence
BP	IEA	GO:2000648	positive regulation of stem cell proliferation

Gene expression in normal tissue: TBX3

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TBX3

Database	Pathway ID	Pathway Des.
wikipathways	WP2857	Mesodermal Commitment Pathway
wikipathways	WP3527	Preimplantation Embryo
kegg	hsa04550	Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human)

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD507	GSK690693	1
iGMDRD328	AR-42	1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TBX3

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DATATYPES

CLASSFICATION

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