CLDN5

Chr 22

claudin 5

Also known as: AWAL, BEC1, CPETRL1, TMDVCF, TMVCF

NCBI Gene: 7122 ENSG00000184113 UniProt: O00501 OMIM: 602101

This gene encodes claudin-5, an integral membrane protein that forms tight junction strands and plays a major role in obliterating the intercellular space to prevent solutes and water from passing freely between endothelial cell sheets. Mutations cause velocardiofacial syndrome, which follows an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants (pLI 0.90, LOEUF 0.41), indicating that complete loss of protein function is likely not tolerated.

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. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]

OMIM ResearchGenerating clinical summary…

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.41

LOEUF

GOF

Mechanism· predicted