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GENATLAS PHENOTYPE
last update : 10-09-2011
Symbol ASD2
Location 8p23.1
Name atrial septal defect 2
Corresponding gene GATA4
Other symbol(s) ASD1
Main clinical features
  • in any cases, additional forms of CHDs, including ventricular septal defects, atrioventricular septal defects, pulmonary valve thickening, or insufficiency of the cardiac valves, but not associated with syndromic disease
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type malformation
    Gene product
    Name zinc-finger transcription factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   haploinsufficiency atrioventricular septal defects result from endothelial-specific GATA4 and SMAD4 compound haploinsufficiency (PMID: 21330551)
    Remark(s) interaction with other transcription factor genes TBX5 and NKX2-5