CLCN7 [The Human Chemical-Genetic Interaction Map Project]

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======= CLCN7 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CLCN7
  * **<color #00a2e8>Official Name</color>**: chloride voltage-gated channel 7
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1186|1186]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P51798|P51798]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CLCN7&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CLCN7|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602727|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. {ECO:0000269|PubMed:18449189, ECO:0000269|PubMed:21527911}.

<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|
|CBS|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|voltage-gated chloride channel activity|
|chloride transmembrane transporter activity|
|antiporter activity|
|response to pH|
|chloride channel activity|
|transmembrane transporter activity|
|chloride transmembrane transport|
|chloride transport|
|inorganic anion transmembrane transport|
|inorganic anion transport|
|cytoplasmic vesicle|
|anion transmembrane transport|
|lysosomal membrane|
|anion transport|
|inorganic ion transmembrane transport|
|intracellular membrane-bounded organelle|
|ion transmembrane transport|
|response to abiotic stimulus|
|transmembrane transport|
|ion transport|
|ATP binding|
|membrane|
</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:exp36|TRAIL 50ng/ml R00 exp36]]|-2.35|
</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>**: 14357
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.3 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CLCN7 Expression in NALM6 Cells: 7.3'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>