Human Gene TBX2 (ENST00000240328.4) from GENCODE V44
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 Gencode Gene: ENSG00000121068.14 Transcript (Including UTRs) Position: hg38 chr17:61,399,843-61,409,466 Size: 9,624 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr17:61,400,177-61,408,506 Size: 8,330 Coding Exon Count: 7
ID:TBX2_HUMAN DESCRIPTION: RecName: Full=T-box transcription factor TBX2; Short=T-box protein 2; FUNCTION: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. SUBCELLULAR LOCATION: Nucleus (Potential). TISSUE SPECIFICITY: Expressed primarily in adult in kidney, lung, and placenta. Weak expression in heart and ovary. SIMILARITY: Contains 1 T-box DNA-binding domain. SEQUENCE CAUTION: Sequence=AAA73861.1; Type=Frameshift; Positions=4; Sequence=AAH52566.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TBX2ID42485ch17q23.html";
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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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: 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:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal 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:0001947 heart looping GO:0003007 heart morphogenesis GO:0003148 outflow tract septum morphogenesis GO:0003151 outflow tract morphogenesis GO:0003203 endocardial cushion morphogenesis GO:0003256 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007219 Notch signaling pathway GO:0007275 multicellular organism 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: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
US Server
