Gene Gene information from NCBI Gene database.
Entrez ID 53405
Gene name Chloride intracellular channel 5
Gene symbol CLIC5
Synonyms (NCBI Gene)
DFNB102DFNB103MST130MSTP130
Chromosome 6
Chromosome location 6p21.1
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 form
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs189893797 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Genic upstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, missense variant
rs199808624 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs606231308 A>T Pathogenic 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs1043716893 C>G,T Likely-pathogenic Genic downstream transcript variant, coding sequence variant, stop gained, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
346
miRTarBase ID miRNA Experiments Reference
MIRT718083 hsa-miR-500b-3p HITS-CLIP 19536157
MIRT718082 hsa-miR-4301 HITS-CLIP 19536157
MIRT718081 hsa-miR-5193 HITS-CLIP 19536157
MIRT718080 hsa-miR-660-3p HITS-CLIP 19536157
MIRT718079 hsa-miR-532-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005254 Function Chloride channel activity IEA
GO:0005515 Function Protein binding IPI 10793131, 12163479, 16831863, 24285636, 28514442, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IEA
GO:0005794 Component Golgi apparatus IDA 12163479
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607293 13517 ENSG00000112782
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZA1
Protein name Chloride intracellular channel protein 5 (Glutaredoxin-like oxidoreductase CLIC5) (EC 1.8.-.-)
Protein function 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(+
PDB 6Y2H , 8Q4I , 8Q4J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13409 GST_N_2 190 254 Glutathione S-transferase, N-terminal domain Domain
PF13410 GST_C_2 273 379 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in both fetal and adult human tissues (PubMed:24781754). Isoform 1 is expressed in renal glomeruli endothelial cells and podocytes (at protein level). {ECO:0000269|PubMed:20335315, ECO:0000269|PubMed:24781754}.
Sequence
MNDEDYSTIYDTIQNERTYEVPDQPEENESPHYDDVHEYLRPENDLYATQLNTHEYDFVS
VYTIKGEETSLASVQSEDRGYLLPDEIYSELQEAHPGEPQEDRGISMEGLYSSTQDQQLC
AAELQENGSVMKEDLPSPSSFTIQHSKAFSTTKYSCYSDAEGLEEKEGAHMNPEIYLFVK
AGIDGESIGNCPFSQRLFMILWLKGVVFNVTTVDLKRKPADLHNLAPGTHPPFLTFNGDV
KTDVNKIEEFLEET
LTPEKYPKLAAKHRESNTAGIDIFSKFSAYIKNTKQQNNAALERGL
TKALKKLDDYLNTPLPEEIDANTCGEDKGSRRKFLDGDELTLADCNLLPKLHVVKIVAKK
YRNYDIPAEMTGLWRYLKN
AYARDEFTNTCAADSEIELAYADVAKRLSRS
Sequence length 410
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal recessive nonsyndromic hearing loss 103 Pathogenic rs606231308 RCV000148034
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive Likely pathogenic rs1043716893 RCV000855670
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Bilateral Vestibulopathy Bilateral Vestibulopathy HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24172169 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34766585 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 37511188 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 27540136
★☆☆☆☆
Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) Deafness CLINGEN_DG 17021174, 24285636, 24781754
★☆☆☆☆
Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 103 Deafness GENOMICS_ENGLAND_DG 24781754
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 103 Deafness CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 103 Deafness CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations