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CLIC2 chloride intracellular channel 2 [ Homo sapiens (human) ]

Gene ID: 1193, updated on 7-Dec-2018

Summary

Official Symbol
CLIC2provided by HGNC
Official Full Name
chloride intracellular channel 2provided by HGNC
Primary source
HGNC:HGNC:2063
See related
Ensembl:ENSG00000155962 MIM:300138
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
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]
Expression
Broad expression in spleen (RPKM 21.8), thyroid (RPKM 19.2) and 23 other tissues See more
Orthologs

Genomic context

See CLIC2 in Genome Data Viewer
Location:
Xq28
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (155276207..155334681, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154505500..154563997, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene VHL binding protein 1 Neighboring gene RAB39B, member RAS oncogene family Neighboring gene twinfilin 1 pseudogene 2 Neighboring gene PHD finger protein 10 pseudogene 1 Neighboring gene uncharacterized LOC101927830 Neighboring gene trimethyllysine hydroxylase, epsilon pseudogene Neighboring gene int22h-2 recombination region Neighboring gene H2A histone family member B2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Ion homeostasis, organism-specific biosystem (from REACTOME)
    Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutathione peroxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT glutathione transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
chloride intracellular channel protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012497.2 RefSeqGene

    Range
    4997..63471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001289.6NP_001280.3  chloride intracellular channel protein 2

    See identical proteins and their annotated locations for NP_001280.3

    Status: REVIEWED

    Source sequence(s)
    AC234781, AK292785, BC022305
    Consensus CDS
    CCDS14767.1
    UniProtKB/Swiss-Prot
    O15247
    Related
    ENSP00000358460.2, ENST00000369449.6
    Conserved Domains (1) summary
    TIGR00862
    Location:12245
    O-ClC; intracellular chloride channel protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    155276207..155334681 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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