======= TBX5 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TBX5
  * **<color #00a2e8>Official Name</color>**: T-box transcription factor 5
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6910|6910]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q99593|Q99593]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TBX5&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TBX5|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601620|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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 is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:29174768, PubMed:26917986, PubMed:27035640, PubMed:8988164). Binds to the core DNA motif of NPPA promoter (PubMed:26926761). {ECO:0000269|PubMed:25725155, ECO:0000269|PubMed:25963046, ECO:0000269|PubMed:26917986, ECO:0000269|PubMed:26926761, ECO:0000269|PubMed:27035640, ECO:0000269|PubMed:29174768, ECO:0000269|PubMed:8988164}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|T-box|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|cell migration involved in coronary vasculogenesis|
|cardiac left ventricle formation|
|cell migration involved in vasculogenesis|
|positive regulation of secondary heart field cardioblast proliferation|
|bundle of His development|
|vasculogenesis involved in coronary vascular morphogenesis|
|His-Purkinje system development|
|positive regulation of cardioblast differentiation|
|regulation of cardioblast differentiation|
|regulation of secondary heart field cardioblast proliferation|
|cardiac ventricle formation|
|regulation of cardioblast proliferation|
|cardiac chamber formation|
|cardiac conduction system development|
|negative regulation of cardiac muscle cell proliferation|
|cell migration involved in heart development|
|cardiac left ventricle morphogenesis|
|atrial septum morphogenesis|
|coronary vasculature morphogenesis|
|regulation of cell proliferation involved in heart morphogenesis|
|pericardium development|
|atrial septum development|
|positive regulation of stem cell differentiation|
|negative regulation of cardiac muscle tissue growth|
|negative regulation of heart growth|
|atrioventricular valve morphogenesis|
|positive regulation of cardiac muscle cell proliferation|
|atrioventricular valve development|
|negative regulation of epithelial to mesenchymal transition|
|positive regulation of cardiocyte differentiation|
|cardiac atrium morphogenesis|
|negative regulation of organ growth|
|negative regulation of cardiac muscle tissue development|
|positive regulation of cardiac muscle tissue growth|
|embryonic forelimb morphogenesis|
|cardiac atrium development|
|regulation of animal organ formation|
|positive regulation of heart growth|
|regulation of cardiac muscle cell proliferation|
|regulation of heart morphogenesis|
|forelimb morphogenesis|
|endocardial cushion development|
|positive regulation of cardiac muscle tissue development|
|protein-DNA complex|
|coronary vasculature development|
|negative regulation of striated muscle tissue development|
|positive regulation of organ growth|
|negative regulation of muscle organ development|
|regulation of cardiocyte differentiation|
|negative regulation of muscle tissue development|
|heart valve morphogenesis|
|RNA polymerase II activating transcription factor binding|
|ventricular cardiac muscle tissue development|
|regulation of cardiac muscle tissue growth|
|heart valve development|
|regulation of heart growth|
|vasculogenesis|
|positive regulation of striated muscle tissue development|
|positive regulation of muscle organ development|
|positive regulation of muscle tissue development|
|ventricular septum development|
|cardiac septum morphogenesis|
|cardiac ventricle morphogenesis|
|regulation of cardiac muscle tissue development|
|regulation of epithelial to mesenchymal transition|
|cell fate specification|
|cardiac muscle cell differentiation|
|regulation of organ growth|
|negative regulation of developmental growth|
|cardiac septum development|
|cardiocyte differentiation|
|regulation of stem cell differentiation|
|embryonic appendage morphogenesis|
|embryonic limb morphogenesis|
|cardiac chamber morphogenesis|
|cardiac ventricle development|
|regulation of striated muscle tissue development|
|regulation of muscle tissue development|
|regulation of muscle organ development|
|limb morphogenesis|
|appendage morphogenesis|
|cardiac muscle tissue development|
|lung development|
|cardiac chamber development|
|positive regulation of developmental growth|
|respiratory tube development|
|transcription initiation from RNA polymerase II promoter|
|limb development|
|appendage development|
|respiratory system development|
|striated muscle cell differentiation|
|DNA-templated transcription, initiation|
|mesenchyme development|
|negative regulation of growth|
|muscle cell differentiation|
|cell fate commitment|
|heart morphogenesis|
|regulation of animal organ morphogenesis|
|positive regulation of growth|
|negative regulation of cell migration|
|negative regulation of cell motility|
|striated muscle tissue development|
|muscle tissue development|
|negative regulation of cellular component movement|
|RNA polymerase II regulatory region sequence-specific DNA binding|
|negative regulation of locomotion|
|regulation of developmental growth|
|transcription factor binding|
|blood vessel morphogenesis|
|sequence-specific DNA binding|
|morphogenesis of an epithelium|
|pattern specification process|
|DNA-binding transcription activator activity, RNA polymerase II-specific|
|muscle structure development|
|transcription by RNA polymerase II|
|blood vessel development|
|RNA polymerase II proximal promoter sequence-specific DNA binding|
|vasculature development|
|cardiovascular system development|
|heart development|
|tissue morphogenesis|
|embryonic morphogenesis|
|protein-containing complex|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|RNA biosynthetic process|
|tube morphogenesis|
|regulation of growth|
|DNA-binding transcription factor activity|
|negative regulation of cell population proliferation|
|negative regulation of cell differentiation|
|tube development|
|regulation of cell migration|
|negative regulation of transcription by RNA polymerase II|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|regulation of cell motility|
|positive regulation of cell population proliferation|
|negative regulation of developmental process|
|animal organ morphogenesis|
|cell migration|
|positive regulation of cell differentiation|
|embryo development|
|regulation of locomotion|
|regulation of cellular component movement|
|regulation of anatomical structure morphogenesis|
|cell motility|
|localization of cell|
|nucleobase-containing compound biosynthetic process|
|epithelium development|
|cell-cell signaling|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|negative regulation of transcription, DNA-templated|
|negative regulation of multicellular organismal process|
|positive regulation of transcription by RNA polymerase II|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|organic cyclic compound biosynthetic process|
|locomotion|
|negative regulation of RNA metabolic process|
|positive regulation of developmental process|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|DNA binding|
|negative regulation of macromolecule biosynthetic process|
|negative regulation of cellular biosynthetic process|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|movement of cell or subcellular component|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|regulation of cell population proliferation|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|RNA metabolic process|
|cellular macromolecule biosynthetic process|
|negative regulation of gene expression|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|tissue development|
|macromolecule biosynthetic process|
|regulation of cell differentiation|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp175|3-Bromopyruvate 7μM R04 exp175]]|1.93|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 11236
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.28 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='TBX5 Expression in NALM6 Cells: -2.28'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>