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TJP2 / ZO2 / ZO-2 is 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 Name: | tight junction protein 2 |
Family/Subfamily: | Occludin , not assigned-Occludin |
Synonyms: | TJP2, C9DUPq21.11, DUP9q21.11, DFNA51, ZO-2, Zona occludens 2, Zonula occludens protein 2, Tight junction protein 2, Tight junction protein ZO-2, ZO2, X104, Zona occludens protein 2 |
Target Sequences: | NM_004817 NP_004808.2 Q9UDY2 |
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