Gene: CLIC5

Alternate names for this Gene: DFNB102|DFNB103|MST130|MSTP130

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: chloride intracellular channel 5

Type of Gene: protein-coding

rs144538541 in CLIC5 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs9349337 in CLIC5 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs4714896 in CLIC5 gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.