Aliases for CLIC5 Gene
External Ids for CLIC5 Gene
This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for CLIC5 Gene
CLIC5 (Chloride Intracellular Channel 5) is a Protein Coding gene. Diseases associated with CLIC5 include deafness, autosomal recessive 103 and autosomal recessive non-syndromic sensorineural deafness type dfnb. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated chloride channel activity. An important paralog of this gene is CLIC1.
UniProtKB/Swiss-Prot for CLIC5 Gene
Required for normal hearing (PubMed:24781754). It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture (PubMed:15184393, PubMed:18028448, PubMed:20335315).