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CLIC2 Gene(Protein Coding)

Chloride Intracellular Channel 2

GCID:
GC0XM155276
GIFtS:
49
Genes Participants
UDN Logo

Aliases for CLIC2 Gene

Aliases for CLIC2 Gene

  • Chloride Intracellular Channel 2 2 3 5
  • XAP121 3 4
  • Chloride Intracellular Channel Protein 2 3
  • CLIC2b 3
  • MRXS32 3

External Ids for CLIC2 Gene

Previous GeneCards Identifiers for CLIC2 Gene

  • GC0XP148554
  • GC0XP150871
  • GC0XM152023
  • GC0XM152928
  • GC0XM154070
  • GC0XM154158
  • GC0XM154505
  • GC0XM143049

Summaries for CLIC2 Gene

Entrez Gene Summary for CLIC2 Gene

  • 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]

GeneCards Summary for CLIC2 Gene

CLIC2 (Chloride Intracellular Channel 2) is a Protein Coding gene. Diseases associated with CLIC2 include Mental Retardation, X-Linked, Syndromic 32 and Chromosome Xq28 Duplication Syndrome. Among its related pathways are Cardiac conduction and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include chloride channel activity and glutathione transferase activity. An important paralog of this gene is CLIC6.

UniProtKB/Swiss-Prot for CLIC2 Gene

  • Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx.

Gene Wiki entry for CLIC2 Gene

Additional gene information for CLIC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLIC2 Gene

Genomics for CLIC2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CLIC2 Gene

Promoters and enhancers for CLIC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XI155332 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.5 509 3.1 ATF1 ARNT YBX1 TCF12 POLR2B ZNF766 E2F8 ATF7 NCOA1 ZNF184 CLIC2 TMLHE ENSG00000230491 LOC101927830
GH0XI154723 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +603.3 603256 16 FOXA2 ZFP64 IRF4 YY1 ZNF213 FOS RUNX3 RXRA JUNB ZC3H11A DKC1 SNORA70 HCFC1 SNORA56 F8A1 EMD GAB3 PLXNA3 F8A2 SLC10A3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CLIC2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CLIC2 Gene

Genomic Locations for CLIC2 Gene
chrX:155,276,207-155,334,681
(GRCh38/hg38)
Size:
58,475 bases
Orientation:
Minus strand
chrX:154,505,500-154,563,986
(GRCh37/hg19)

Genomic View for CLIC2 Gene

Genes around CLIC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLIC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLIC2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CLIC2 Gene

Proteins for CLIC2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CLIC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15247-CLIC2_HUMAN
    Recommended name:
    Chloride intracellular channel protein 2
    Protein Accession:
    O15247
    Secondary Accessions:
    • A8K9S0
    • O15174
    • Q5JT80
    • Q8TCE3

    Protein attributes for CLIC2 Gene

    Size:
    247 amino acids
    Molecular mass:
    28356 Da
    Quaternary structure:
    • Monomer. Interacts with TRAPPC2 and RYR2.
    SequenceCaution:
    • Sequence=CAA73228.1; Type=Frameshift; Positions=244; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CLIC2 Gene

neXtProt entry for CLIC2 Gene

Protein Expression for CLIC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CLIC2 Gene

No Post-translational modifications

Other Protein References for CLIC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLIC2 Gene

Domains & Families for CLIC2 Gene

Gene Families for CLIC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for CLIC2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CLIC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15247

UniProtKB/Swiss-Prot:

CLIC2_HUMAN :
  • Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion.
  • Belongs to the chloride channel CLIC family.
Domain:
  • Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion.
Family:
  • Belongs to the chloride channel CLIC family.
genes like me logo Genes that share domains with CLIC2: view

Function for CLIC2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CLIC2 Gene

UniProtKB/Swiss-Prot Function:
Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx.

Gene Ontology (GO) - Molecular Function for CLIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004364 NOT glutathione transferase activity IDA 15147738
GO:0004602 glutathione peroxidase activity IDA 15147738
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005254 chloride channel activity IEA,IBA --
GO:0005515 protein binding IPI 12681486
genes like me logo Genes that share ontologies with CLIC2: view
genes like me logo Genes that share phenotypes with CLIC2: view

Human Phenotype Ontology for CLIC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for CLIC2 Gene

miRTarBase miRNAs that target CLIC2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for CLIC2 Gene

Localization for CLIC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLIC2 Gene

Cytoplasm. Membrane; Single-pass membrane protein. Note=Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLIC2 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus TAS 16130169
GO:0005737 cytoplasm TAS 16130169
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CLIC2: view

Pathways & Interactions for CLIC2 Gene

genes like me logo Genes that share pathways with CLIC2: view

Gene Ontology (GO) - Biological Process for CLIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006749 NOT glutathione metabolic process IBA --
GO:0006810 transport TAS 9339381
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction TAS 16130169
genes like me logo Genes that share ontologies with CLIC2: view

No data available for SIGNOR curated interactions for CLIC2 Gene

Drugs & Compounds for CLIC2 Gene

Products:

  1. Drug

(2) Drugs for CLIC2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for CLIC2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
 16887-00-6
genes like me logo Genes that share compounds with CLIC2: view

Transcripts for CLIC2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CLIC2 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(118) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CLIC2 Gene

Chloride intracellular channel 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLIC2 Gene

No ASD Table

Relevant External Links for CLIC2 Gene

GeneLoc Exon Structure for
CLIC2
ECgene alternative splicing isoforms for
CLIC2

Expression for CLIC2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLIC2 Gene

mRNA expression in normal human tissues for CLIC2 Gene
mRNA expression by BioGPS for CLIC2 GenemRNA expression by GTEx for CLIC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CLIC2 Gene

This gene is overexpressed in Spleen (21.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CLIC2 Gene



Protein tissue co-expression partners for CLIC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLIC2 Gene:

CLIC2

SOURCE GeneReport for Unigene cluster for CLIC2 Gene:

Hs.655445

mRNA Expression by UniProt/SwissProt for CLIC2 Gene:

O15247-CLIC2_HUMAN
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.

Evidence on tissue expression from TISSUES for CLIC2 Gene

  • Liver(4.3)
  • Lung(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLIC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • head
  • outer ear
Thorax:
  • heart
  • heart valve
  • lung
Pelvis:
  • testicle
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
genes like me logo Genes that share expression patterns with CLIC2: view

No data available for mRNA differential expression in normal tissues for CLIC2 Gene

Orthologs for CLIC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLIC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CLIC2 33 34
  • 99.87 (n)
dog
(Canis familiaris)
 Mammalia CLIC2 33 34
  • 93.42 (n)
cow
(Bos Taurus)
 Mammalia CLIC2 33 34
  • 90.82 (n)
rat
(Rattus norvegicus)
 Mammalia Clic2 33
  • 88.84 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CLIC2 34
  • 87 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CLIC2 34
  • 82 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CLIC2 33 34
  • 73.7 (n)
zebrafish
(Danio rerio)
 Actinopterygii clic2 33 34
  • 68.64 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Clic 34
  • 28 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea exl-1 34
  • 28 (a)
 ManyToMany
exc-4 34
  • 21 (a)
 ManyToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons DHAR3 33
  • 47.38 (n)
rice
(Oryza sativa)
 Liliopsida Os06g0232600 33
  • 45.86 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.6991 34
  • 43 (a)
 OneToMany
Species where no ortholog for CLIC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CLIC2 Gene

ENSEMBL:
Gene Tree for CLIC2 (if available)
TreeFam:
Gene Tree for CLIC2 (if available)

Paralogs for CLIC2 Gene

Paralogs for CLIC2 Gene

(6) SIMAP similar genes for CLIC2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CLIC2: view

Variants for CLIC2 Gene

Sequence variations from dbSNP and Humsavar for CLIC2 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs398122917 pathogenic, Mental retardation, X-linked, syndromic 32, Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM:300886] 155,280,059(-) G/C coding_sequence_variant, missense_variant
rs41304992 likely-benign, not specified, not provided 155,279,253(-) G/C coding_sequence_variant, missense_variant
rs7050330 likely-benign, not provided 155,334,361(-) G/A intron_variant
rs367873692 likely-benign, not specified 155,277,930(-) G/A coding_sequence_variant, synonymous_variant
rs559165 benign, not specified 155,277,884(-) G/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CLIC2 Gene

Variant ID Type Subtype PubMed ID
dgv2548e212 CNV gain 25503493
esv26400 CNV loss 19812545
esv29972 CNV gain 17803354
esv3308775 CNV mobile element insertion 20981092
esv3376146 CNV insertion 20981092
esv33784 CNV gain+loss 17666407
nsv1132793 CNV duplication 24896259
nsv1141718 CNV duplication 24896259
nsv1146877 CNV duplication 26484159
nsv508817 CNV insertion 20534489

Variation tolerance for CLIC2 Gene

Residual Variation Intolerance Score: 78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLIC2 Gene

Human Gene Mutation Database (HGMD)
CLIC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLIC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLIC2 Gene

Disorders for CLIC2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CLIC2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CLIC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLIC2_HUMAN
  • Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM:300886]: A mental retardation syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:22814392}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CLIC2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CLIC2: view

No data available for Genatlas for CLIC2 Gene

Publications for CLIC2 Gene

  1. Genomic structure of a novel chloride channel gene, CLIC2, in Xq28. (PMID: 9339381) Heiss NS … Poustka A (Genomics 1997) 2 3 4 22 58
  2. A recently identified member of the glutathione transferase structural family modifies cardiac RyR2 substate activity, coupled gating and activation by Ca2+ and ATP. (PMID: 15916532) Dulhunty AF … Board PG (The Biochemical journal 2005) 3 4 22 58
  3. CLIC-2 modulates cardiac ryanodine receptor Ca2+ release channels. (PMID: 15147738) Board PG … Dulhunty AF (The international journal of biochemistry & cell biology 2004) 3 4 22 58
  4. An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. (PMID: 22814392) Takano K … Dulhunty AF (Human molecular genetics 2012) 3 4 58
  5. The crystal structure of human chloride intracellular channel protein 2: a disulfide bond with functional implications. (PMID: 18186468) Mi W … Su XD (Proteins 2008) 3 4 58

Products for CLIC2 Gene

Sources for CLIC2 Gene

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