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FLASH GENE
Symbol TBX4 contributors: mct - updated : 28-01-2020
HGNC name T-box 4
HGNC id 11603
ASSOCIATED DISORDERS
corresponding disease(s) PTLAH , DEL17Q23 , DUP17QO , PAPPAS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   amplification    
familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4 (Alvarado 2010)
constitutional germinal mutation      
associated with childhood-onset pulmonary arterial hypertension
constitutional germinal mutation      
in developmental lung disease manifesting with severe, often biphasic pulmonary hypertension (PH) at birth and/or later in infancy and childhood, often associated with skeletal anomalies, cardiac defects, neurodevelopmental disability and other anomalies
Susceptibility
  • to lethal lung maldevelopment, including acinar dysplasia (AcDys), congenital alveolar dysplasia (CAD) spectrum
  • to pulmonary arterial hypertension (PAH)
  • Variant & Polymorphism other
  • SNVs or CNVs involving TBX4 in our subjects with lethal lung maldevelopment, including acinar dysplasia (AcDys), congenital alveolar dysplasia (CAD)spectrum
  • common genetic variants underlying PAH susceptibility
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in mice, a homozygous Tbx4-null allele entirely abrogates hindlimb development while forelimbs remain unaffected (pMID: 31761294)