TJP2, Official Symbol TJP2provided by HGNC Official Full Name tight junction protein 2provided by HGNC Primary source HGNC:HGNC:11828 See related Ensembl:ENSG00000119139 MIM:607709; AllianceGenome:HGNC:11828 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ZO2; X104; FHCA1; PFIC4; DFNA51; DUP9q21.11; C9DUPq21.11 Summary 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] Expression Ubiquitous expression in lung (RPKM 15.3), fat (RPKM 14.2) and 25 other tissues See more Orthologs mouse all