CLIC5 gene

chloride intracellular channel 5

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 103

From UniProt:

Deafness, autosomal recessive, 103 (DFNB103): A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia. [MIM:616042]

Cytogenetic Location: 6p12.3, which is the short (p) arm of chromosome 6 at position 12.3

Molecular Location: base pairs 45,898,451 to 46,129,809 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p12.3, which is the short (p) arm of chromosome 6 at position 12.3
  • DFNB102
  • DFNB103
  • MST130
  • MSTP130