Aliases for TJP2 Gene
External Ids for TJP2 Gene
Previous HGNC Symbols for TJP2 Gene
Previous GeneCards Identifiers for TJP2 Gene
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]
GeneCards Summary for TJP2 Gene
TJP2 (Tight Junction Protein 2) is a Protein Coding gene. Diseases associated with TJP2 include Cholestasis, Progressive Familial Intrahepatic, 4 and Hypercholanemia, Familial. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Cell adhesion_Endothelial cell contacts by junctional mechanisms. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and protein binding, bridging. An important paralog of this gene is ENSG00000285130.
UniProtKB/Swiss-Prot Summary for TJP2 Gene
Plays a role in tight junctions and adherens junctions.