CLDN22

Chr 4

claudin 22

Also known as: CLDN21

NCBI Gene: 53842 ENSG00000177300 UniProt: Q8N7P3 OMIM: 620566

This gene encodes claudin-22, an integral membrane protein that forms tight junctions between epithelial cells and plays a major role in obliterating intercellular spaces through calcium-independent cell adhesion. The gene shows low constraint to loss-of-function variation (pLI 0.04, LOEUF 1.19), and no established disease associations have been reported for mutations in this gene.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is intronless and overlaps the 3' UTR of the WWC2 gene (GeneID: 80014) on the opposite strand. [provided by RefSeq, Aug 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)