Entrez Summary: The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013].
UniProt Summary: Channel-forming tight junction protein that mediates paracellular chloride transport in the kidney. Plays a critical role in the paracellular reabsorption of filtered chloride in the kidney collecting ducts. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. {ECO:0000250|UniProtKB:O35054}.
Pfam DomainsGO Terms
Pfam Domains
PMP22 Claudin
GO Terms
renal absorption
apicolateral plasma membrane
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules
establishment of skin barrier
regulation of water loss via skin
basal plasma membrane
response to progesterone
chloride channel complex
chloride channel activity
lateral plasma membrane
multicellular organismal water homeostasis
water homeostasis
chloride transmembrane transport
chloride transport
inorganic anion transmembrane transport
renal system process
bicellular tight junction
transmembrane signaling receptor activity
circadian rhythm
inorganic anion transport
female pregnancy
structural molecule activity
response to ketone
multi-multicellular organism process
cell-cell adhesion via plasma-membrane adhesion molecules
anion transmembrane transport
rhythmic process
apical plasma membrane
multicellular organismal homeostasis
response to steroid hormone
skin development
regulation of body fluid levels
cell-cell adhesion
anion transport
inorganic ion transmembrane transport
response to lipid
response to hormone
response to organic cyclic compound
cell adhesion
biological adhesion
ion transmembrane transport
multi-organism reproductive process
response to drug
identical protein binding
chemical homeostasis
transmembrane transport
ion transport
integral component of plasma membrane
reproductive process
reproduction
response to endogenous stimulus
response to oxygen-containing compound
homeostatic process
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)