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MGP000667

UniProt Annotations

Entry Information
Gene Nameclaudin 3
Protein EntryCLD3_HUMAN
UniProt IDO15551
SpeciesHuman
Comments
Comment typeDescription
DiseaseNote=CLDN3 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
FunctionPlays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. {ECO:0000250}.
SimilarityBelongs to the claudin family. {ECO:0000305}.
Subcellular LocationCell junction, tight junction {ECO:0000250}. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
SubunitCan form homo- and heteropolymers with other CLDN. Homopolymers interact with CLDN1 and CLDN2 homopolymers. Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3 (By similarity). {ECO:0000250}.
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