Gene Gene information from NCBI Gene database.
Entrez ID 25932
Gene name Chloride intracellular channel 4
Gene symbol CLIC4
Synonyms (NCBI Gene)
CLIC4LH1MTCLIChuH1p64H1
Chromosome 1
Chromosome location 1p36.11
Summary Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracel
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1557810606 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1191
miRTarBase ID miRNA Experiments Reference
MIRT016555 hsa-miR-193b-3p Proteomics 21512034
MIRT018964 hsa-miR-335-5p Microarray 18185580
MIRT020967 hsa-miR-155-5p Proteomics 20584899
MIRT021633 hsa-miR-142-3p Microarray 17612493
MIRT023398 hsa-miR-122-5p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001886 Process Endothelial cell morphogenesis IEA
GO:0005254 Function Chloride channel activity IBA
GO:0005254 Function Chloride channel activity IEA
GO:0005254 Function Chloride channel activity TAS 9295337
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606536 13518 ENSG00000169504
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y696
Protein name Chloride intracellular channel protein 4 (Glutaredoxin-like oxidoreductase CLIC4) (EC 1.8.-.-) (Intracellular chloride ion channel protein p64H1)
Protein function In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor (PubMed:25581026, PubMed:37759794). Can insert into membranes and form voltage-dependent multi-ion conductive channel
PDB 2AHE , 2D2Z , 3OQS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13410 GST_C_2 134 223 Domain
Tissue specificity TISSUE SPECIFICITY: Detected in epithelial cells from colon, esophagus and kidney (at protein level). Expression is prominent in heart, kidney, placenta and skeletal muscle. {ECO:0000269|PubMed:10793131, ECO:0000269|PubMed:17200346, ECO:0000269|PubMed:176
Sequence
MALSMPLNGLKEEDKEPLIELFVKAGSDGESIGNCPFSQRLFMILWLKGVVFSVTTVDLK
RKPADLQNLAPGTHPPFITFNSEVKTDVNKIEEFLEEVLCPPKYLKLSPKHPESNTAGMD
IFAKFSAYIKNSRPEANEALERGLLKTLQKLDEYLNSPLPDEIDENSMEDIKFSTRKFLD
GNEMTLADCNLLPKLHIVKVVAKKYRNFDIPKEMTGIWRYLTN
AYSRDEFTNTCPSDKEV
EIAYSDVAKRLTK
Sequence length 253
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Short stature Likely pathogenic rs1557810606 RCV000736140
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Mucinous Inhibit 24503901
Adenocarcinoma of Lung Associate 24503901
Breast Neoplasms Associate 12163372
Carcinogenesis Associate 24503901, 32667519
Carcinoma Hepatocellular Associate 34766585
Carcinoma Merkel Cell Associate 29462791
Carcinoma Ovarian Epithelial Stimulate 30282979
Carcinoma Pancreatic Ductal Associate 28205343
Carcinoma Renal Cell Associate 37689589
Carcinoma Verrucous Associate 37026609