CLIC5 |
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)