Tight Junction Protein 2
Tight Junction Protein 2 gene is mapped on chromosome 9q13-q21 with a molecular weight of 133.65kDa in which isoform C1 is expressed at high level in kidney, pancreas, heart and placenta. It is significant as a component of the tight junction barrier in epithelial and endothelial cells necessary for proper assembly of tight junctions. It contains multiple spliced transcripts isoforms that has been observed and identified wherein isoform A is abundant in the heart and brain while isoform C is highly expressed in kidney, placenta and heart.
Tight Junction Protein 2 binds to the cytoplasmic C terminal of transmembrane proteins linked to the actin cytoskeleton which is abundant in heart and brain as well as minimally detected in skeletal muscle. It is present at the cytoplasmic side of tight junction of epithelial and endothelial cells in which under environmental stress it is present in the nucleus during at the late cycle of G1 phase of the cell cycle and departs during mitosis.
Tight Junction Protein 2 is associated in familial hypocholanemia, a disorder distinguished by elevated serum bile acid concentrations, itching and fat malabsorption wherein mutation occurs in genomic duplication of 270kb region causing autosomal dominant deafness 51.
Gene name: TJP2
Protein name: Tight junction protein ZO-2