TJP2, X104, ZO2, Tight junction protein ZO-2, Tight junction protein 2, Zona occludens protein 2, Zonula occludens protein 2
This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011],disease:Defects in TJP2 are involved in familial hypercholanemia (FHCA) [MIM:607748]. FHCA is a disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.,function:Plays a role in tight junctions and adherens junctions.,similarity:Belongs to the MAGUK family.,similarity:Contains 1 guanylate kinase-like domain.,similarity:Contains 1 SH3 domain.,similarity:Contains 3 PDZ (DHR) domains.,subcellular location:Also nuclear under environmental stress conditions and in migratory endothelial cells and subconfluent epithelial cell cultures.,subunit:Homodimer, and heterodimer with ZO1. Interacts with occludin, SAFB and UBN1. Interaction with SAFB occurs in the nucleus.,tissue specificity:This protein is found in epithelial cell junctions. Isoform A1 is abundant in the heart and brain whereas isoform C1 is expressed at high level in the kidney, pancreas, heart and placenta. In brain and skeletal muscle, only isoform A1 is detectable. Isoform C1 is found in normal as well as in most neoplastic tissues while isoform A1 is present almost exclusively in normal tissue.,
