SCNN1A [The Human Chemical-Genetic Interaction Map Project]

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======= SCNN1A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SCNN1A
  * **<color #00a2e8>Official Name</color>**: sodium channel epithelial 1 subunit alpha
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6337|6337]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P37088|P37088]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SCNN1A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SCNN1A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600228|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and eccrine sweat glands. Also plays a role in taste perception. {ECO:0000269|PubMed:24124190, ECO:0000269|PubMed:8278374}.

<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'>
|ASC|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|sodium channel complex|
|ligand-gated sodium channel activity|
|sperm principal piece|
|WW domain binding|
|sodium ion homeostasis|
|ciliary membrane|
|sensory perception of taste|
|multicellular organismal water homeostasis|
|water homeostasis|
|acrosomal vesicle|
|sodium ion transmembrane transport|
|motile cilium|
|monovalent inorganic cation homeostasis|
|sodium ion transport|
|apical plasma membrane|
|multicellular organismal homeostasis|
|monovalent inorganic cation transport|
|regulation of body fluid levels|
|sensory perception of chemical stimulus|
|inorganic cation transmembrane transport|
|cation transmembrane transport|
|metal ion homeostasis|
|metal ion transport|
|inorganic ion transmembrane transport|
|cation homeostasis|
|inorganic ion homeostasis|
|ion homeostasis|
|cation transport|
|ion transmembrane transport|
|sensory perception|
|chemical homeostasis|
|transmembrane transport|
|ion transport|
|nervous system process|
|integral component of plasma membrane|
|homeostatic process|
|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:exp457|Bisphenol F 50μM R08 exp457]]|-2.22|
|[[:results:exp146|Quinacrine 2.5μM R03 exp146]]|-2.01|
|[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|-1.81|
|[[:results:exp462|Cadmium 60μM R08 exp462]]|-1.79|
|[[:results:exp8|Brefeldin A 0.02μM R00 exp8]]|-1.75|
</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>**: 18506
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.44 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SCNN1A Expression in NALM6 Cells: 1.44'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>