Entrez Summary: This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013].
UniProt Summary: Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function.
Pfam DomainsGO Terms
Pfam Domains
Voltage CLC
CBS
GO Terms
solute:proton antiporter activity
voltage-gated chloride channel activity
chloride ion binding
excretion
chloride channel activity
apical part of cell
chloride transmembrane transport
chloride transport
inorganic anion transmembrane transport
proton transmembrane transport
inorganic anion transport
endosome membrane
early endosome
endosome
anion transmembrane transport
lysosomal membrane
monovalent inorganic cation transport
inorganic cation transmembrane transport
anion transport
cation transmembrane transport
Golgi membrane
inorganic ion transmembrane transport
cation transport
ion transmembrane transport
Golgi apparatus
identical protein binding
transmembrane transport
ion transport
integral component of plasma membrane
ATP binding
system process
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)