Kin Of IRRE Like Protein 3 (KIRREL3)

KIRREL3 is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.The 778-amino acid NEPH2 protein, like NEPH1 and NEPH3, contains 5 extracellular Ig-like repeats, a transmembrane domain, and a cytoplasmic domain that has a stretch of 9 conserved residues (KDPTNGYYxV). EST database analysis suggested similar tissue distributions for all 3 NEPH proteins.