Human Gene TBX2 (ENST00000240328.4_3) from GENCODE V45lift37
Description: Homo sapiens T-box transcription factor 2 (TBX2), mRNA. (from RefSeq NM_005994) RefSeq Summary (NM_005994): 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 gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000240328.4_3 Gencode Gene: ENSG00000121068.14_6 Transcript (Including UTRs) Position: hg19 chr17:59,477,204-59,486,827 Size: 9,624 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr17:59,477,538-59,485,867 Size: 8,330 Coding Exon Count: 7
ID:TBX2_HUMAN DESCRIPTION: RecName: Full=T-box transcription factor TBX2; Short=T-box protein 2; FUNCTION: 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). SUBUNIT: Binds DNA as a monomer (PubMed:11111039). Interacts with PML (isoform PML-2, isoform PML-3 and isoform PML-4) (PubMed:22002537). INTERACTION: Q13207; P0C7T5: ATXN1L; NbExp=3; IntAct=EBI-2853051, EBI-8624731; Q13207; Q9UHD4: CIDEB; NbExp=3; IntAct=EBI-2853051, EBI-7062247; Q13207; Q9NZN8: CNOT2; NbExp=3; IntAct=EBI-2853051, EBI-743033; Q13207; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-2853051, EBI-3867333; Q13207; P25791-3: LMO2; NbExp=3; IntAct=EBI-2853051, EBI-11959475; Q13207; O14770-4: MEIS2; NbExp=3; IntAct=EBI-2853051, EBI-8025850; Q13207; P29590: PML; NbExp=2; IntAct=EBI-2853051, EBI-295890; Q13207; O14787-2: TNPO2; NbExp=3; IntAct=EBI-2853051, EBI-12076664; Q13207; Q6DKK2: TTC19; NbExp=3; IntAct=EBI-2853051, EBI-948354; SUBCELLULAR LOCATION: Nucleus TISSUE SPECIFICITY: Expressed primarily in adult in kidney, lung, and placenta. Weak expression in heart and ovary. DEVELOPMENTAL STAGE: Expressed in the outflow tract and the atrioventricular canal at embryonic stage 12 and gradually reduced by stage 16 (at protein level). DOMAIN: Repression domain 1 (RD1) is involved in transcriptional repression (PubMed:11062467, PubMed:30599067). RD1 is necessary for its interaction with PML (PubMed:22002537). DISEASE: Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) [MIM:618223]: 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. Note=The disease is caused by variants affecting the gene represented in this entry. SEQUENCE CAUTION: Sequence=AAA73861.1; Type=Frameshift; Evidence=; Sequence=AAH52566.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/42485/TBX2"; WEB RESOURCE: Name=Undiagnosed Disease Network; Note=TBX2; URL="https://undiagnosed.hms.harvard.edu/updates/genes-of-interest/tbx2-gene/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13207
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Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001102 RNA polymerase II activating transcription factor binding GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001708 cell fate specification GO:0001947 heart looping GO:0003007 heart morphogenesis GO:0003148 outflow tract septum morphogenesis GO:0003151 outflow tract morphogenesis GO:0003203 endocardial cushion morphogenesis GO:0003205 cardiac chamber development GO:0003256 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0006355 regulation of transcription, DNA-templated GO:0007219 Notch signaling pathway GO:0007275 multicellular organism development GO:0007417 central nervous system development GO:0007521 muscle cell fate determination GO:0007569 cell aging GO:0008016 regulation of heart contraction GO:0008284 positive regulation of cell proliferation GO:0035050 embryonic heart tube development GO:0035909 aorta morphogenesis GO:0036302 atrioventricular canal development GO:0042733 embryonic digit morphogenesis GO:0045892 negative regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048596 embryonic camera-type eye morphogenesis GO:0048738 cardiac muscle tissue development GO:0060021 palate development GO:0060045 positive regulation of cardiac muscle cell proliferation GO:0060465 pharynx development GO:0060560 developmental growth involved in morphogenesis GO:0060596 mammary placode formation GO:0090398 cellular senescence GO:1901208 negative regulation of heart looping GO:1901211 negative regulation of cardiac chamber formation
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
