CLDN2

Chr XXLR

claudin 2

Also known as: OAZON, claudin-2

NCBI Gene: 9075 ENSG00000165376 UniProt: P57739 OMIM: 300520

This protein forms paracellular channels in tight junctions that are selective for cations and water, regulating sodium and water transport in the intestine, kidney proximal tubules, and hepatobiliary tract. Mutations cause azoospermia with obstructive features and nephrolithiasis in males. The gene follows X-linked recessive inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physiologic properties of tight junctions. This protein is expressed in the intestine. Alternatively spliced transcript variants with different 5' untranslated region have been found for this gene.[provided by RefSeq, Jan 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Azoospermia, obstructive, with nephrolithiasisMIM #301060

XLR

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.75

LOEUF

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Mechanism

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GeneReview available — CLDN2