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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
Short stature Likely pathogenic rs1557810606 RCV000736140
★★★★☆
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma BEFREE 31560739
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24503901
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31744714
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31744714
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 28587170
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 30282979
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17200346
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 12163372 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 24503901, 32667519 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34766585 Associate
★☆☆☆☆
Found in Text Mining only