CLIC5

Chr 6p21.1

CLIC family member 5

Aliases:: DFNB102
MANE:: ENST00000339561.12

OMIM: 607293 ↗NCBI: 53405 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CLIC5 · Q9NZA1

v62025-08-01

Predicted Aligned Error matrix for CLIC5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.0/ 100

Low

410 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)8%
Low(50–70)3%
Very low(< 50)42%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive
0.58
deafness
0.52
open-angle glaucoma
0.44
hair color
0.42
alcohol drinking
0.31
external ear disorder
0.30
type 2 diabetes mellitus
0.29
Proteinuria
0.29
chronic venous hypertension
0.29
severe acute respiratory syndrome
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Chloride intracellular channel protein 5

In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor (By similarity). Can insert into membranes and form non-selective ion channels almost equally permeable to Na(+), K(+) and Cl(-) (PubMed:15184393, PubMed:18028448). 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). 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). Plays a role in formation of the lens suture in the eye, which is important for normal optical properties of the lens (By similarity)