Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the N-terminus of particular EGF-like domains" (cd00054) was associated with SELE (selectin E), FAT2 (FAT tumor suppressor homolog 2), and JAG1 (jagged 1, Alagille syndrome); (iii) "Cadherin EGF LAG seven-pass G-type receptor [Signal transduction mechanisms]" (KOG4289) was associated with SELE, PCDHGA12 (protocadherin gamma subfamily A, 12), and CDH13 (adherin 13, H-cadherin); and (iv) "Cadherin repeat domain" (cd00031) was associated with FAT2, PCDHGA12, and CDH13. The gene discussed is PCDHGA12; the disease is Alagille syndrome.