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Symbol GJA5 contributors: mct - updated : 03-07-2015
HGNC name gap junction protein, alpha 5, 40kDa
HGNC id 4279
corresponding disease(s) ATFB11
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in ischemic cardiomyopathy
constitutional   deletion    
1q21.1 contiguous gene deletion (with ACP6 and GJA8)associated with a range of cardiac defects, with particularly anomalies of the aortic arch
constitutional somatic mutation      
in idiopathic atrial fibrillation by impairing gap-junction assembly or electrical coupling
constitutional   amplification    
recurring copy-number variants in congenital heart disease
  • to atrial cardiomyopathy with heart block (see ATFB1A)
  • to essential hypertension in men
  • to Tetralogy of Fallot
  • Variant & Polymorphism other
  • somatic mutations in atrial cardiomyopathy with heart block
  • polymorphisms increasing the risk of essential hypertension in men
  • A96S mutation, the aberrant extravascular localization of renin-secreting cells in the kidney likely impairs the pressure-mediated inhibition of renin secretion, and is associated to essential hypertension
  • Candidate gene for the CHD phenotypes observed with dup 1q21
    Therapy target
  • deletion of the gap-junction-forming protein GJA5 leads to renin-dependent hypertension in mice
  • sinus node impulse initiation was found to be ectopic in Cx40(-/-) mice at 15.5 days postcoitus