CFTR [The Human Chemical-Genetic Interaction Map Project]

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======= CFTR =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: CFTR
  * **<color #00a2e8>Official Name</color>**: CF transmembrane conductance regulator
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1080|1080]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P13569|P13569]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=CFTR&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CFTR|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/602421|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810). {ECO:0000269|PubMed:10792060, ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:14668433, ECO:0000269|PubMed:15010471, ECO:0000269|PubMed:16645176, ECO:0000269|PubMed:17036051, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26627831, ECO:0000269|PubMed:26823428, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:27714810, ECO:0000269|PubMed:27941075, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:8910473, ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:19923167}.

<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'>
|ABC tran|
|ABC membrane|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of cyclic nucleotide-gated ion channel activity|
|Sec61 translocon complex binding|
|intracellularly ATP-gated chloride channel activity|
|positive regulation of voltage-gated chloride channel activity|
|transepithelial water transport|
|regulation of cyclic nucleotide-gated ion channel activity|
|regulation of voltage-gated chloride channel activity|
|positive regulation of inorganic anion transmembrane transport|
|positive regulation of anion channel activity|
|intracellular pH elevation|
|chloride channel regulator activity|
|pH elevation|
|regulation of inorganic anion transmembrane transport|
|epithelial fluid transport|
|positive regulation of anion transmembrane transport|
|membrane hyperpolarization|
|chloride channel inhibitor activity|
|regulation of anion channel activity|
|regulation of chloride transport|
|cellular response to forskolin|
|response to forskolin|
|response to platelet aggregation inhibitor|
|bicarbonate transmembrane transporter activity|
|isomerase activity|
|chloride transmembrane transporter activity|
|transepithelial transport|
|Golgi-associated vesicle membrane|
|water transport|
|fluid transport|
|sperm capacitation|
|regulation of anion transmembrane transport|
|positive regulation of insulin secretion involved in cellular response to glucose stimulus|
|vesicle docking involved in exocytosis|
|bicarbonate transport|
|cholesterol biosynthetic process|
|secondary alcohol biosynthetic process|
|sterol biosynthetic process|
|chloride channel complex|
|positive regulation of anion transport|
|ATPase-coupled transmembrane transporter activity|
|clathrin-coated vesicle membrane|
|cellular response to cAMP|
|cholesterol transport|
|chloride channel activity|
|regulation of insulin secretion involved in cellular response to glucose stimulus|
|vesicle docking|
|sterol transport|
|multicellular organismal water homeostasis|
|exocytic process|
|positive regulation of insulin secretion|
|water homeostasis|
|recycling endosome membrane|
|cellular response to alcohol|
|regulation of intracellular pH|
|PDZ domain binding|
|positive regulation of exocytosis|
|chloride transmembrane transport|
|regulation of cellular pH|
|cellular response to ketone|
|regulation of anion transport|
|positive regulation of peptide hormone secretion|
|response to cAMP|
|regulation of pH|
|chloride transport|
|chaperone binding|
|positive regulation of ion transmembrane transporter activity|
|inorganic anion transmembrane transport|
|cellular monovalent inorganic cation homeostasis|
|positive regulation of transporter activity|
|alcohol biosynthetic process|
|recycling endosome|
|cholesterol metabolic process|
|cellular response to antibiotic|
|steroid biosynthetic process|
|positive regulation of hormone secretion|
|secondary alcohol metabolic process|
|sterol metabolic process|
|response to organophosphorus|
|organic hydroxy compound transport|
|monovalent inorganic cation homeostasis|
|spermatid development|
|response to purine-containing compound|
|early endosome membrane|
|positive regulation of ion transmembrane transport|
|spermatid differentiation|
|cell maturation|
|inorganic anion transport|
|organelle localization by membrane tethering|
|regulation of insulin secretion|
|membrane docking|
|organic hydroxy compound biosynthetic process|
|response to ketone|
|positive regulation of transmembrane transport|
|regulation of peptide hormone secretion|
|endosome membrane|
|regulation of exocytosis|
|response to alcohol|
|ATPase activity|
|developmental maturation|
|germ cell development|
|early endosome|
|response to endoplasmic reticulum stress|
|regulation of ion transmembrane transporter activity|
|steroid metabolic process|
|regulation of transmembrane transporter activity|
|regulation of hormone secretion|
|positive regulation of protein secretion|
|positive regulation of ion transport|
|anion transmembrane transport|
|regulation of transporter activity|
|protein deubiquitination|
|positive regulation of peptide secretion|
|protein modification by small protein removal|
|lipid transport|
|lysosomal membrane|
|response to antibiotic|
|alcohol metabolic process|
|apical plasma membrane|
|lipid localization|
|multicellular organismal homeostasis|
|enzyme binding|
|cellular process involved in reproduction in multicellular organism|
|positive regulation of secretion by cell|
|cellular response to drug|
|positive regulation of protein transport|
|regulation of membrane potential|
|positive regulation of secretion|
|organic hydroxy compound metabolic process|
|organic anion transport|
|positive regulation of establishment of protein localization|
|regulation of protein secretion|
|regulation of ion transmembrane transport|
|regulation of peptide secretion|
|regulation of body fluid levels|
|cellular response to lipid|
|regulation of hormone levels|
|cellular response to organic cyclic compound|
|spermatogenesis|
|regulation of vesicle-mediated transport|
|regulation of transmembrane transport|
|male gamete generation|
|lipid biosynthetic process|
|organelle localization|
|anion transport|
|small molecule biosynthetic process|
|protein-containing complex|
|cellular response to organonitrogen compound|
|cell surface|
|cellular cation homeostasis|
|cellular ion homeostasis|
|inorganic ion transmembrane transport|
|cellular response to nitrogen compound|
|developmental process involved in reproduction|
|gamete generation|
|regulation of ion transport|
|regulation of protein transport|
|cation homeostasis|
|inorganic ion homeostasis|
|regulation of peptide transport|
|cellular chemical homeostasis|
|regulation of establishment of protein localization|
|regulation of secretion by cell|
|ion homeostasis|
|exocytosis|
|regulation of secretion|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|membrane organization|
|response to lipid|
|cellular homeostasis|
|regulation of cellular localization|
|response to organic cyclic compound|
|endoplasmic reticulum membrane|
|ion transmembrane transport|
|protein modification by small protein conjugation or removal|
|positive regulation of transport|
|multi-organism reproductive process|
|response to organonitrogen compound|
|secretion by cell|
|response to drug|
|regulation of protein localization|
|export from cell|
|cellular response to oxygen-containing compound|
|response to nitrogen compound|
|chemical homeostasis|
|secretion|
|lipid metabolic process|
|cellular response to endogenous stimulus|
|proteolysis|
|transmembrane transport|
|organic cyclic compound biosynthetic process|
|ion transport|
|integral component of plasma membrane|
|reproductive process|
|reproduction|
|response to endogenous stimulus|
|ATP binding|
|response to oxygen-containing compound|
|homeostatic process|
|cell development|
|cellular response to stress|
|small molecule metabolic process|
|positive regulation of molecular function|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of transport|
|vesicle-mediated transport|
|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:exp59|UMK57 1μM R01 exp59]]|-1.91|
|[[:results:exp42|BI-6727 0.001μM R01 exp42]]|-1.71|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|-1.7|
|[[:results:exp272|CHIR-124 0.04μM R06 exp272]]|1.71|
</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>**: 14435
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.15 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='CFTR Expression in NALM6 Cells: 0.15'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>