Furthermore, both the Gln119*- mutant SOX5 and the Glu214*-mutant SOX5 failed to transactivate the expression of SCN5A, alone or synergistically with SHOX2, and pathogenic variations in both SCN5A and SHOX2 have been discovered to result in AF [82,98,99,100,101]. The gene discussed is SHOX2; the disease is atrial fibrillation.