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].

T-box 3MIM:601621Ensembl:ENSG00000135111HGNC:HGNC:11602PA3636512q24.21

GO terms in TBX3

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

Gene expression in normal tissue: TBX3

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TBX3

DatabasePathway IDPathway Des.
wikipathwaysWP2857Mesodermal Commitment Pathway
wikipathwaysWP3527Preimplantation Embryo
kegghsa04550Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human)

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TBX3