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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]
Q9UDY2 [Direct mapping] Tight junction protein ZO-2
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Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q9UDY2 [Direct mapping] Tight junction protein ZO-2
Show all
Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q9UDY2 [Direct mapping] Tight junction protein ZO-2
Show all
Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q9UDY2 [Direct mapping] Tight junction protein ZO-2
Show all
Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q9UDY2 [Direct mapping] Tight junction protein ZO-2
Show all
Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Q9UDY2 [Direct mapping] Tight junction protein ZO-2
Show all
Predicted intracellular proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)