Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	1480	7q31-q32	CFTR	CF transmembrane conductance regulator
Mouse	-	1476	6 A3	Cftr	cystic fibrosis transmembrane conductance regulator
Rat	-	1476	4q21	Cftr	CF transmembrane conductance regulator

Previous and Unofficial Names

ABCC7 | ABC35 | CFTR/MRP | MRP7 | TNR-CFTR | ATP-binding cassette sub-family C member 7 | cAMP-dependent chloride channel | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)

Database Links
ChEMBL Target	CHEMBL4051 (Hs), CHEMBL3992 (Rn)
DrugBank Target	P13569 (Hs)
Ensembl Gene	ENSG00000001626 (Hs), ENSMUSG00000041301 (Mm), ENSRNOG00000008284 (Rn)
Entrez Gene	1080 (Hs), 12638 (Mm), 24255 (Rn)
Human Protein Atlas	ENSG00000001626 (Hs)
KEGG Gene	hsa:1080 (Hs), mmu:12638 (Mm), rno:24255 (Rn)
OMIM	602421 (Hs)
Orphanet	ORPHA119382 (Hs)
UniProtKB	P13569 (Hs), P26361 (Mm), P34158 (Rn)
Wikipedia	CFTR (Hs)

Functional Characteristics

γ = 6-10 pS; permeability sequence = Br- ≥ Cl- > I- > F-, (PI/PCl = 0.1–0.85); slight outward rectification; phosphorylation necessary for activation by ATP binding at binding nucleotide binding domains (NBD)1 and 2; positively regulated by PKC and PKGII (tissue specific); regulated by several interacting proteins including syntaxin 1A, Munc18 and PDZ domain proteins such as NHERF (EBP50) and CAP70

Download all structure-activity data for this target as a CSV file

Activators
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Voltage-dependent (mV) Reference felodipine Hs Potentiation 8.4 pKi - no 1 ⤷ pKi 8.4 (Ki 4x10-9 M) [1] Not voltage dependent tezacaftor Hs Potentiation 6.6 pEC50 - no 2 ⤷ pEC50 6.6 (EC50 2.72x10-7 M) [2] Not voltage dependent Description: Measuring the increase in cAMP/genistein-dependent current amplitude via the ΔF508-CFTR mutant expressed in NIH/3T3 cells by patch-clamp recording, in response to tezacaftor exposure. capsaicin Hs Potentiation - - - no ⤷ Not voltage dependent nimodipine Hs Potentiation - - - no ⤷ Not voltage dependent genistein Hs Potentiation - - - no ⤷ Not voltage dependent apigenin Hs Potentiation - - - no ⤷ Not voltage dependent CBIQ Hs Potentiation - - - no ⤷ Not voltage dependent NS004 Hs Potentiation - - - no ⤷ Not voltage dependent phenylglycine-01 Hs Potentiation - - - no ⤷ Not voltage dependent sulfonamide-01 Hs Potentiation - - - no ⤷ Not voltage dependent UCCF-029 Hs Potentiation - - - no ⤷ Not voltage dependent UCCF-339 Hs Potentiation - - - no ⤷ Not voltage dependent UCCF-853 Hs Potentiation - - - no ⤷ Not voltage dependent ivacaftor Hs Potentiation - - - no ⤷ Not voltage dependent
Activator Comments
UCCF-339, UCCF-029, apigenin and genistein are examples of flavones. UCCF-853 and NS004 are examples of benzimidazolones. CBIQ is an example of a benzoquinoline. felodipine and nimodipine are examples of 1,4-dihydropyridines. Phenylglycine-01 is an example of a phenylglycine. SF-01 is an example of a sulfonamide.

Inhibitors
Key to terms and symbols		Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Voltage-dependent (mV) Reference crofelemer Hs Inhibition 5.2 pIC50 - no 4 ⤷ pIC50 5.2 (IC50 7x10-6 M) [4] Not voltage dependent

Channel Blockers
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Voltage-dependent (mV) Reference glibenclamide Hs - 4.7 pKi - no 3 ⤷ pKi 4.7 (Ki 2.18x10-5 M) [3] Not voltage dependent intracellular CFTRinh-172 Hs - - - - no ⤷ intracellular application prolongs mean closed time Not voltage dependent GaTx1 Hs - - - - no ⤷ Not voltage dependent extracellular GlyH-101 Hs - - - - no ⤷ Not voltage dependent
Channel Blocker Comments
Malonic acid hydrazide conjugates are also CFTR channel blockers (see Verkman and Galietta, 2009 [5]).

Clinically-Relevant Mutations and Pathophysiology
Disease:  Bronchiectasis with or without elevated sweat chloride 1, BESC1 Synonyms: Bronchiectasis [Disease Ontology: DOID:9563] Idiopathic bronchiectasis [Orphanet: ORPHA60033] Disease Ontology: DOID:9563 OMIM: 211400 Orphanet: ORPHA60033
Disease:  Congenital bilateral absence of vas deferens OMIM: 277180 Orphanet: ORPHA48
Disease:  Cystic fibrosis Disease Ontology: DOID:1485 OMIM: 219700 Orphanet: ORPHA586
Disease:  Hereditary pancreatitis Synonyms: Hereditary chronic pancreatitis [Orphanet: ORPHA676] OMIM: 167800 Orphanet: ORPHA676
Disease:  Male infertility with normal virilization due to meiosis defect Orphanet: ORPHA217034