Gene: TJP2

Alternate names for this Gene: C9DUPq21.11|DFNA51|DUP9q21.11|PFIC4|X104|ZO2

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q21.11

Description of this Gene: tight junction protein 2

Type of Gene: protein-coding

rs11145465 in TJP2 gene and Abnormality of refraction PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

rs1554669525 in TJP2 gene and Cholestasis, progressive familial intrahepatic 4 PMID 24614073 2014 Mutations in TJP2 cause progressive cholestatic liver disease.

rs121918299 in TJP2 gene and Hypercholanemia, Familial PMID 12704386 2003 Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

rs11145488 in TJP2 gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs11145465 in TJP2 gene and Refractive Errors PMID 23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.