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FLASH GENE
Symbol TBX5 contributors: mct - updated : 05-03-2015
HGNC name T-box 5
HGNC id 11604
ASSOCIATED DISORDERS
corresponding disease(s) HOS1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation     loss of function
interacting with GATA4 in causing inherited heart septation defects (ASD)
Susceptibility
  • to development of retinopathy of prematurity (ROP)
  • to familial dilated cardiomyopathy (DCM)
  • to isolated congenital heart disease (CHD)
  • Variant & Polymorphism SNP
  • association between SNPs gene and the development of ROP
  • low-frequency single-nucleotide polymorphism (SNP) that abrogates a cardiac-specific TBX5 enhancer, having the potential to lead to as many CHDs
  • TBX5 loss-of-function mutation associated with enhanced susceptibility to DCM
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Tbx5 from the mature murine ventricular conduction system (VCS), including the AV bundle and bundle branches, resulted in severe VCS functional consequences, including loss of fast conduction, arrhythmias, and sudden death