CLIC5 (chloride intracellular channel 5)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
53405
Gene name Gene Name - the full gene name approved by the HGNC.
Chloride intracellular channel 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLIC5
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB102, DFNB103, MST130, MSTP130
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607293 13517 ENSG00000112782
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
KTDVNKIEEFLEETLTPEKYPKLAAKHRESNTAGIDIFSKFSAYIKNTKQQNNAALERGL
TKALKKLDDYLNTPLPEEIDANTCGEDKGSRRKFLDGDELTLADCNLLPKLHVVKIVAKK
YRNYDIPAEMTGLWRYLKNAYARDEFTNTCAADSEIELAYADVAKRLSRS
Sequence length 410
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal recessive nonsyndromic hearing loss 103 rs606231308 N/A
Hearing Loss Hearing loss, autosomal recessive rs1043716893 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 24172169
Carcinoma Hepatocellular Associate 34766585
Cataract Associate 37511188
Diabetic Nephropathies Associate 36092962, 37492198
Diabetic Nephropathies Inhibit 37916327
Hearing Loss Associate 24781754, 33114113
Kidney Diseases Associate 24781754
Neoplasms Associate 34766585
Nonsyndromic Deafness Associate 33114113
Precursor Cell Lymphoblastic Leukemia Lymphoma Associate 27540136