Gene Facts External Data Attribution

HGNC Symbol
CLIC5 (HGNC:13517) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
chloride intracellular channel 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
DFNB102
%HI
29.16(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.17(Read more about gnomAD LOEUF score)
Cytoband
6p21.1
Genomic Coordinates
GRCh37/hg19: chr6:45866188-46097556 NCBI Ensembl UCSC
GRCh38/hg38: chr6:45880827-46129819 NCBI Ensembl UCSC
MANE Select Transcript
NM_016929.5 ENST00000339561.12 (Read more about MANE Select)
Function
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, P... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-37240
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)