CLDN3

Chr 7

claudin 3

Also known as: C7orf1, CPE-R2, CPETR2, HRVP1, RVP1

NCBI Gene: 1365 ENSG00000165215 UniProt: O15551 OMIM: 602910

The protein is a barrier-forming claudin that plays a major role in tight junction formation by obliterating intercellular space through calcium-independent cell adhesion activity. Mutations cause autosomal recessive intellectual disability and hypocalciuric hypercalcemia, affecting neurological development and calcium homeostasis. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. [provided by RefSeq, Jul 2008]

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)