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Gene : CLCN1 Homo sapiens

Name  ? chloride voltage-gated channel 1 Cytological Location  7q34
Brief Description  chloride voltage-gated channel 1
Description  The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
  • synonyms:
  • HGNC:2019,
  • ClC-1,
  • Z25884,
  • uc003wcr.2,
  • NM_000083,
  • CLC1,
  • OTTHUMG00000152695,
  • chloride channel 1, skeletal muscle,
  • Thomsen disease, autosomal dominant,
  • CLCN1,
  • chloride channel, voltage-sensitive 1,
  • CLC1
  • identifiers:
  • 1180,
  • ENSG00000188037,
  • CLCN1

Genome feature

Region: gene ? Length: 35973  
Location: 7:143316111-143352083 Cyto location: 7q34


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 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

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Gene Ontology

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Other

178 SN Ps

5 Cross References

17 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results