In humans, mutations in EpCAM cause congenital tufting enteropathy (CTE), a disease which is associated with loss of tight junction protein Claudin-7 and increased actomyosin contractility at epithelial cell-cell junctions leading to the disruption of intestinal epithelial integrity [9–11]. The gene discussed is CLDN7; the disease is congenital diarrhea 5 with tufting enteropathy.