TBX5

Gene Information

Official Symbol: TBX5
Official Name: T-box transcription factor 5
Aliases and Previous Symbols: N/A
Entrez ID: 6910
UniProt: Q99593
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez 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 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics 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

Essentiality in NALM6

Essentiality Rank: 11236
Expression level (log2 read counts): -2.28

Expression Distribution

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