CLCN1 [The Human Chemical-Genetic Interaction Map Project]

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======= CLCN1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CLCN1
  * **<color #00a2e8>Official Name</color>**: chloride voltage-gated channel 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1180|1180]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P35523|P35523]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CLCN1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CLCN1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/118425|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. {ECO:0000269|PubMed:12456816, ECO:0000269|PubMed:22521272, ECO:0000269|PubMed:26007199, ECO:0000269|PubMed:26502825, ECO:0000269|PubMed:26510092, ECO:0000269|PubMed:7951242, ECO:0000269|PubMed:8112288, ECO:0000269|PubMed:9122265, ECO:0000269|PubMed:9736777}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Voltage CLC|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|neuronal action potential propagation|
|action potential propagation|
|voltage-gated chloride channel activity|
|chloride channel complex|
|transmission of nerve impulse|
|chloride transmembrane transport|
|action potential|
|sarcolemma|
|chloride transport|
|inorganic anion transmembrane transport|
|multicellular organismal signaling|
|inorganic anion transport|
|muscle contraction|
|anion transmembrane transport|
|muscle system process|
|regulation of membrane potential|
|regulation of ion transmembrane transport|
|regulation of transmembrane transport|
|anion transport|
|inorganic ion transmembrane transport|
|regulation of ion transport|
|protein homodimerization activity|
|ion transmembrane transport|
|transmembrane transport|
|ion transport|
|nervous system process|
|integral component of plasma membrane|
|regulation of transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp271|CCT251545 0.2μM R06 exp271]]|1.77|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9025
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -6.6 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CLCN1 Expression in NALM6 Cells: -6.6'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>