CLIC2 chloride intracellular channel 2

Gene ID: 1193, updated on 2-Nov-2024
Gene type: protein coding
Also known as: CLCNL2; CLIC2b; MRXS32; XAP121

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 intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Chromosome Xq28 duplication syndrome MedGen: C2749007OMIM: 300815GeneReviews: Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated	See labs
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MedGen: C3550913OMIM: 300886GeneReviews: Not available	See labs

Genomic context

Location:: Xq28

Sequence:: Chromosome: X; NC_000023.11 (155276211..155334614, complement)

Total number of exons:: 6

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CLIC2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CLIC2 @ LOVD
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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