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Gene : CLIC2 Homo sapiens

Name  ? chloride intracellular channel 2 Cytological Location  Xq28
Brief Description  chloride intracellular channel 2
Description  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]
  • synonyms:
  • XAP121,
  • XAP121,
  • CLIC2,
  • NM_001289,
  • uc004fnf.5,
  • MRXS32,
  • OTTHUMG00000022660,
  • CLIC2b,
  • AJ000217,
  • CLCNL2,
  • CLCNL2,
  • HGNC:2063
  • identifiers:
  • 1193,
  • ENSG00000155962,
  • CLIC2

Genome feature

Region: gene ? Length: 58404  
Location: X:155276211-155334614 reverse strand Cyto location: Xq28


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

3753 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results