Gene Gene information from NCBI Gene database.
Entrez ID 1193
Gene name Chloride intracellular channel 2
Gene symbol CLIC2
Synonyms (NCBI Gene)
CLCNL2CLIC2bMRXS32XAP121
Chromosome X
Chromosome location Xq28
Summary This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intrac
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs398122917 G>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
150
miRTarBase ID miRNA Experiments Reference
MIRT017468 hsa-miR-335-5p Microarray 18185580
MIRT029268 hsa-miR-26b-5p Microarray 19088304
MIRT896243 hsa-miR-101 CLIP-seq
MIRT896244 hsa-miR-1254 CLIP-seq
MIRT896245 hsa-miR-1305 CLIP-seq
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:0004364 Function Glutathione transferase activity IDA 15147738
GO:0004602 Function Glutathione peroxidase activity IDA 15147738
GO:0005254 Function Chloride channel activity IBA
GO:0005254 Function Chloride channel activity IEA
GO:0005254 Function Chloride channel activity TAS 9339381
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300138 2063 ENSG00000155962
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15247
Protein name Chloride intracellular channel protein 2 (Glutaredoxin-like oxidoreductase CLIC2) (EC 1.8.-.-) (Glutaredoxin-like peroxidase CLIC2) (EC 1.11.1.-) (XAP121)
Protein function In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor. Displays weak glutathione peroxidase activity (Probable) (PubMed:25581026). Can insert into membranes and form chlor
PDB 2PER , 2R4V , 2R5G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13409 GST_N_2 29 93 Glutathione S-transferase, N-terminal domain Domain
PF13410 GST_C_2 74 218 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in adult and fetal brain, heart, skeletal muscle, liver, lung, and spleen. Detected in adult stomach and testis. Expressed in fetal thymus and kidney. {ECO:0000269|PubMed:15147738, ECO:0000269|PubMed:22814392}.
Sequence
MSGLRPGTQVDPEIELFVKAGSDGESIGNCPFCQRLFMILWLKGVKFNVTTVDMTRKPEE
LKDLAPGTNPPFL
VYNKELKTDFIKIEEFLEQTLAPPRYPHLSPKYKESFDVGCNLFAKF
SAYIKNTQKEANKNFEKSLLKEFKRLDDYLNTPLLDEIDPDSAEEPPVSRRLFLDGDQLT
LADCSLLPKLNIIKVAAKKYRDFDIPAEFSGVWRYLHN
AYAREEFTHTCPEDKEIENTYA
NVAKQKS
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Stimuli-sensing channels
Ion homeostasis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CLIC2-related disorder Benign rs782783664 RCV003944710
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs1446453794, rs782037891, rs782547045, rs782061657, rs1557318661, rs398122917 RCV001330550
RCV001779370
RCV001814619
RCV002210924
RCV003989037
RCV000033043
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 22814392
Carcinoma Hepatocellular Associate 34766585
Cardiomegaly Associate 22814392
Cardiomyopathy Dilated Associate 24339868
Channelopathies Associate 22814392
Colorectal Neoplasms Associate 30929599
Developmental Disabilities Associate 22814392
Genetic Diseases Inborn Associate 29257243
Heart Diseases Associate 22814392
Heart Failure Associate 22814392