TBX2

TBX2 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. TBX2 product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that TBX2 may have a potential role in tumorigenesis as an immortalizing agent.

T-Box 2

Transcription factor which acts as a transcriptional repressor (PubMed:11111039, PubMed:11062467, PubMed:12000749, PubMed:22844464, PubMed:30599067).
May also function as a transcriptional activator (By similarity).
Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:11111039, PubMed:12000749, PubMed:22844464, PubMed:30599067).
Required for cardiac atrioventricular canal formation (PubMed:29726930).
May cooperate with NKX2.5 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (By similarity).
May play a role as a positive regulator of TGFB2 expression, perhaps acting in concert with GATA4 in the developing outflow tract myocardium (By similarity).
Plays a role in limb pattern formation (PubMed:29726930).
Acts as a transcriptional repressor of ADAM10 gene expression, perhaps in concert with histone deacetylase HDAC1 as cofactor (PubMed:30599067).
Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX3 (By similarity).
Required, together with TBX3, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (By similarity).
Involved in modulating early inner ear development, acting independently of, and also redundantly with TBX3, in different subregions of the developing ear (By similarity).
Acts as a negative regulator of PML function in cellular senescence (PubMed:22002537).
Acts as a negative regulator of expression of CDKN1A/p21, IL33 and CCN4; repression of CDKN1A is enhanced in response to UV-induced stress, perhaps as a result of phosphorylation by p38 MAPK (By similarity).
Negatively modulates expression of CDKN2A/p14ARF and CDH1/E-cadherin (PubMed:11062467, PubMed:12000749, PubMed:22844464).
Plays a role in induction of the epithelial-mesenchymal transition (EMT) (PubMed:22844464).
Plays a role in melanocyte proliferation, perhaps via regulation of cyclin CCND1 (By similarity).
Involved in melanogenesis, acting via negative modulation of expression of DHICA oxidase/TYRP1 and P protein/OCA2 (By similarity).
Involved in regulating retinal pigment epithelium (RPE) cell proliferation, perhaps via negatively modulating transcription of the transcription factor CEBPD (PubMed:28910203).

Biological Process aorta morphogenesisISS:BHF-UCL
Biological Process apoptotic processIEA:Ensembl
Biological Process atrioventricular canal developmentISS:BHF-UCLBy Similarity
Biological Process atrioventricular canal morphogenesisISS:BHF-UCLBy Similarity
Biological Process cardiac jelly developmentIMP:BHF-UCL1 Publication
Biological Process cardiac muscle cell myoblast differentiationIEA:Ensembl
Biological Process cardiac muscle tissue developmentISS:BHF-UCL
Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process cellular senescenceIDA:UniProtKB1 Publication
Biological Process cochlea morphogenesisIEA:Ensembl
Biological Process developmental growth involved in morphogenesisIEA:Ensembl
Biological Process embryonic camera-type eye morphogenesisISS:BHF-UCL
Biological Process embryonic digit morphogenesisISS:BHF-UCL
Biological Process embryonic heart tube developmentISS:UniProtKB
Biological Process endocardial cushion formationIMP:BHF-UCL1 Publication
Biological Process endocardial cushion morphogenesisISS:BHF-UCL
Biological Process epithelial tube branching involved in lung morphogenesisIEA:Ensembl
Biological Process fibroblast growth factor receptor signaling pathwayIEA:Ensembl
Biological Process heart loopingISS:UniProtKB
Biological Process mammary placode formationIEA:Ensembl
Biological Process melanocyte proliferationIEA:Ensembl
Biological Process mesenchymal cell proliferation involved in lung developmentIEA:Ensembl
Biological Process muscle cell fate determinationISS:BHF-UCL
Biological Process negative regulation of cardiac chamber formationISS:BHF-UCL
Biological Process negative regulation of cellular senescenceIDA:UniProtKB1 Publication
Biological Process negative regulation of DNA-templated transcriptionIDA:UniProtKB4 Publications
Biological Process negative regulation of heart loopingISS:BHF-UCL
Biological Process negative regulation of transcription by RNA polymerase IIIDA:UniProtKB2 Publications
Biological Process neurogenesisIEA:Ensembl
Biological Process Notch signaling pathwayIEA:Ensembl
Biological Process outflow tract morphogenesisISS:BHF-UCL
Biological Process outflow tract septum morphogenesisISS:BHF-UCL
Biological Process pharynx developmentISS:BHF-UCL
Biological Process pigment metabolic process involved in pigmentationIEA:Ensembl
Biological Process positive regulation of cardiac muscle cell proliferationISS:BHF-UCL
Biological Process positive regulation of cell cycle G1/S phase transitionIEA:Ensembl
Biological Process positive regulation of transcription by RNA polymerase IIIEA:Ensembl
Biological Process regulation of heart contractionISS:UniProtKB
Biological Process regulation of transcription by RNA polymerase IIISS:BHF-UCL
Biological Process response to retinoic acidIEA:Ensembl
Biological Process roof of mouth developmentIEA:Ensembl
Biological Process smooth muscle cell differentiationIEA:Ensembl
Biological Process ureteric peristalsisIEA:Ensembl

Nucleus

Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD):
An autosomal dominant syndrome characterized by skeletal malformations primarily involving the vertebrae, immunodeficiency, endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency, craniofacial dysmorphism, congenital cardiac anomalies consisting of double-outlet right ventricle, pulmonary valve stenosis and atrial septal defect, and developmental impairments.