======= SLC12A3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SLC12A3
  * **<color #00a2e8>Official Name</color>**: solute carrier family 12 member 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6559|6559]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P55017|P55017]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SLC12A3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SLC12A3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600968|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption (PubMed:21613606, PubMed:22009145). Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity). {ECO:0000250|UniProtKB:P59158, ECO:0000269|PubMed:21613606, ECO:0000269|PubMed:22009145}.

<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'>
|AA permease N|
|AA permease|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|sodium:chloride symporter activity|
|sodium:potassium:chloride symporter activity|
|sodium ion transmembrane transporter activity|
|potassium:chloride symporter activity|
|chloride ion homeostasis|
|monovalent inorganic anion homeostasis|
|cell volume homeostasis|
|potassium ion homeostasis|
|sodium ion homeostasis|
|potassium ion import across plasma membrane|
|anion homeostasis|
|inorganic cation import across plasma membrane|
|inorganic ion import across plasma membrane|
|chloride transmembrane transport|
|sodium ion transmembrane transport|
|import across plasma membrane|
|chloride transport|
|inorganic anion transmembrane transport|
|monovalent inorganic cation homeostasis|
|sodium ion transport|
|potassium ion transmembrane transport|
|inorganic anion transport|
|potassium ion transport|
|regulation of cell size|
|anion transmembrane transport|
|apical plasma membrane|
|regulation of cellular component size|
|monovalent inorganic cation transport|
|regulation of anatomical structure size|
|inorganic cation transmembrane transport|
|anion transport|
|cation transmembrane transport|
|metal ion homeostasis|
|metal ion transport|
|inorganic ion transmembrane transport|
|import into cell|
|cation homeostasis|
|inorganic ion homeostasis|
|ion homeostasis|
|cation transport|
|cellular homeostasis|
|ion transmembrane transport|
|chemical homeostasis|
|transmembrane transport|
|ion transport|
|integral component of plasma membrane|
|homeostatic process|
|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:exp226|Cerivastatin 0.15μM R05 exp226]]|1.7|
|[[:results:exp341|BRD2 inhibitor II 20μM R07 exp341]]|1.71|
|[[:results:exp318|ABT-702 5μM R07 exp318]]|1.91|
</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>**: 16177
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.89 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SLC12A3 Expression in NALM6 Cells: 0.89'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>