DGIdb - CFTR Gene Record

CFTR 1080 Druggable Genome

Alternate Names:

1080
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR
CFTR
ABC35
ABCC7
CF
CFTR/MRP
MRP7
TNR-CFTR
dJ760C5.1
602421
1884
ENSG00000001626
OTTHUMG00000023076
P13569
cAMP-dependent chloride channel
Channel conductance-controlling ATPase
ATP-binding cassette sub-family C member 7
PA109
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP- DEPENDENT CHLORIDE CHANNEL). [SOURCE:UNIPROT/SWISSPROT;ACC:P13569]
CFTR_HUMAN
T55654
CF transmembrane conductance regulator

Gene Info:

Target Class	Transporters
Target Subclass	TC:3.A.1.202.1
Human Readable Name	DRUGGABLE GENOME
Interpro Type	Domain
Uniprot Evidence	1: Evidence at protein level
Human Readable Name	ABC TRANSPORTER
Interpro Acc	IPR001140
Uniprot Status	Swiss-Prot
Interpro Short Name	ABC_transptr_TM_dom
Interpro Name	ABC transporter, transmembrane domain
Gene Biotype	PROTEIN_CODING

(10 More Sources)

Gene Categories: Category Details

TRANSPORTER
CELL SURFACE
ION CHANNEL
ABC TRANSPORTER
DRUGGABLE GENOME

Publications:

Hubert D et al., 2017, Real-life initiation of lumacaftor/ivacaftor combination in adults with cystic fibrosis homozygous for the Phe508del CFTR mutation and severe lung disease., J Cyst Fibros
Dekkers JF et al., 2016, Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis., Sci Transl Med
Veit G et al., 2016, From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations., Mol Biol Cell
Awatade NT et al., 2014, Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis., EBioMedicine
Yu et al., 2012, Ivacaftor potentiation of multiple CFTR channels with gating mutations., J. Cyst. Fibros.
Van Goor F et al., 2011, Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809., Proc Natl Acad Sci U S A
Clancy JP et al., 2012, Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation., Thorax
Boyle MP et al., 2014, A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial., Lancet Respir Med
Kopeikin Z et al., 2014, Combined effects of VX-770 and VX-809 on several functional abnormalities of F508del-CFTR channels., J Cyst Fibros
Ikpa PT et al., 2014, Cystic fibrosis: toward personalized therapies., Int J Biochem Cell Biol
Norman P, 2014, Novel picolinamide-based cystic fibrosis transmembrane regulator modulators: evaluation of WO2013038373, WO2013038376, WO2013038381, WO2013038386 and WO2013038390., Expert Opin Ther Pat
Compain P et al., 2013, Rescue of functional CFTR channels in cystic fibrosis: a dramatic multivalent effect using iminosugar cluster-based correctors., Chembiochem
Van Goor F et al., 2014, Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function., J Cyst Fibros
Lubamba B et al., 2012, Cystic fibrosis: insight into CFTR pathophysiology and pharmacotherapy., Clin Biochem
Pesce E et al., 2015, Synthesis and structure-activity relationship of aminoarylthiazole derivatives as correctors of the chloride transport defect in cystic fibrosis., Eur J Med Chem
Kuk et al., 2015, Lumacaftor and ivacaftor in the management of patients with cystic fibrosis: current evidence and future prospects., Ther Adv Respir Dis
Fohner AE et al., 2017, PharmGKB summary: ivacaftor pathway, pharmacokinetics/pharmacodynamics., Pharmacogenet Genomics
Wang W et al., 2016, Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators., PLoS One
Tradtrantip et al., 2010, Crofelemer, an antisecretory antidiarrheal proanthocyanidin oligomer extracted from Croton lechleri, targets two distinct intestinal chloride channels., Mol. Pharmacol.
Derand et al., 2002, The cystic fibrosis mutation G551D alters the non-Michaelis-Menten behavior of the cystic fibrosis transmembrane conductance regulator (CFTR) channel and abolishes the inhibitory Genistein binding site., J. Biol. Chem.
Arora K et al., 2016, Personalized medicine in cystic fibrosis: genistein supplementation as a treatment option for patients with a rare S1045Y-CFTR mutation., Am J Physiol Lung Cell Mol Physiol
Shoseyov D et al., 2016, Ataluren for the treatment of cystic fibrosis., Expert Rev Respir Med
Wilschanski M et al., 2011, Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis., Eur Respir J
Sermet-Gaudelus I et al., 2010, Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis., Am J Respir Crit Care Med
Kerem E et al., 2008, Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial., Lancet
Tosco A et al., 2016, A novel treatment of cystic fibrosis acting on-target: cysteamine plus epigallocatechin gallate for the autophagy-dependent rescue of class II-mutated CFTR., Cell Death Differ
Taylor-Cousar JL et al., 2017, Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del., N Engl J Med
Rowe SM et al., 2017, Tezacaftor-Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis., N Engl J Med
Donaldson SH et al., 2018, Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR., Am J Respir Crit Care Med
Saint-Criq V et al., 2017, Role of CFTR in epithelial physiology., Cell Mol Life Sci
Hutt DM et al., 2010, Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis., Nat Chem Biol

LUMACAFTOR CFTR

Interaction Score: 85.02

Interaction Types & Directionality:

modulator

Interaction Info:

Trial Name VX-809

Novel drug target Established target

Trial Name VX-809 + VX-770

PMIDs:
28325531 27334259 26823392 26137539 22293084 21976485 21825083 24973281 24796242 24561283 24392786 24038832 23891399 22698459 26041577 26416827

Sources:
DTC TdgClinicalTrial ChemblInteractions PharmGKB TTD FDA
TEZACAFTOR CFTR

Interaction Score: 30.91

Interaction Types & Directionality:

activator (activating)

Interaction Info:

Mechanism of Interaction Cystic fibrosis transmembrane conductance regulator positive modulator

Direct Interaction yes

Combination therapy Elexacaftor,Ivacaftor,Tezacaftor

PMIDs:
29099344 29099333 28930490 27714410

Sources:
ChemblInteractions PharmGKB TTD FDA
IVACAFTOR CFTR

Interaction Score: 11.59

Interaction Types & Directionality:

activator (activating)

potentiator

Interaction Info:

Trial Name VX-809 + VX-770

Novel drug target Established target

Trial Name VX-770

PMIDs:
22293084 27636560

Sources:
TdgClinicalTrial ChemblInteractions TTD FDA
CROFELEMER CFTR

Interaction Score: 7.73

Interaction Types & Directionality:

antagonist (inhibitory)

inhibitor (inhibitory)

Interaction Info:

Mechanism of Interaction Cystic fibrosis transmembrane conductance regulator inhibitor

Direct Interaction yes

Trial Name crofelemer

PMIDs:
19808995

Sources:
TdgClinicalTrial ChemblInteractions TTD
ATALUREN CFTR

Interaction Score: 6.44

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
26840186 21233271 20622033 18722008

Sources:
PharmGKB
GALICAFTOR CFTR

Interaction Score: 3.86

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
None found

Sources:
TTD
ELEXACAFTOR CFTR

Interaction Score: 3.86

Interaction Types & Directionality:

modulator

Interaction Info:

Combination therapy Elexacaftor,Ivacaftor,Tezacaftor

PMIDs:
None found

Sources:
FDA
IOWH-032 CFTR

Interaction Score: 3.86

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
None found

Sources:
TTD
QBW251 CFTR

Interaction Score: 3.86

Interaction Types & Directionality:

activator (activating)

Interaction Info:

Direct Interaction yes

Mechanism of Interaction Cystic fibrosis transmembrane conductance regulator activator

PMIDs:
None found

Sources:
ChemblInteractions
CYSTEAMINE CFTR

Interaction Score: 2.58

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
27035618

Sources:
PharmGKB
SCRIPTAID CFTR

Interaction Score: 0.64

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
19966789

Sources:
DTC
ENTINOSTAT CFTR

Interaction Score: 0.43

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
19966789

Sources:
DTC
TRICHOSTATIN CFTR

Interaction Score: 0.41

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
19966789

Sources:
DTC
GENISTEIN CFTR

Interaction Score: 0.31

Interaction Types & Directionality:

activator (activating)

Interaction Info:

PMIDs:
12124395 27261451

Sources:
NCI PharmGKB
VORINOSTAT CFTR

Interaction Score: 0.17

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
19966789

Sources:
DTC
CURCUMIN CFTR

Interaction Score: 0.11

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
27007499

Sources:
PharmGKB

Ensembl: ENSG00000001626
- Version: 101_38
Alternate Names:

CFTR Ensembl Gene Name

Gene Info:

Gene Biotype PROTEIN_CODING

Publications:
HopkinsGroom: P13569
- Version: 11-September-2012
Alternate Names:

CFTR Uniprot Gene Name

CFTR_HUMAN Uniprot Id

1080 Entrez Gene Id

Gene Info:

Human Readable Name DRUGGABLE GENOME

Interpro Type Domain

Uniprot Evidence 1: Evidence at protein level

Gene Categories:

ABC TRANSPORTER, DRUGGABLE GENOME

Publications:
TdgClinicalTrial: P13569
- Version: January-2014
Alternate Names:

CFTR Gene Symbol

Gene Info:

Target Class Transporters

Target Subclass TC:3.A.1.202.1

Publications:

RussLampel: ENSG00000001626

Version: 26-July-2011

Alternate Names:

ENSG00000001626 Ensembl Gene Id

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP- DEPENDENT CHLORIDE CHANNEL). [SOURCE:UNIPROT/SWISSPROT;ACC:P13569] Description

CFTR Display Id

Gene Info:

Human Readable Name DRUGGABLE GENOME

Gene Categories:

DRUGGABLE GENOME

Publications:

PharmGKB: CFTR

Version: 18-August-2020

Alternate Names:

PA109 PharmGKB ID

Gene Info:

Publications:

Carlile GW et al., 2016, Latonduine Analogs Restore F508del-Cystic Fibrosis Transmembrane Conductance Regulator Trafficking through the Modulation of Poly-ADP Ribose Polymerase 3 and Poly-ADP Ribose Polymerase 16 Activity., Mol Pharmacol

Boyle MP et al., 2014, A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial., Lancet Respir Med

Taylor-Cousar JL et al., 2018, Lumacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease homozygous for F508del-CFTR., J Cyst Fibros

NCI: CFTR

Version: 14-September-2017

Alternate Names:

Gene Info:

Publications:

Saeed et al., 2008, Fenretinide prevents the development of osteoporosis in Cftr-KO mice., J. Cyst. Fibros.

Derand et al., 2002, The cystic fibrosis mutation G551D alters the non-Michaelis-Menten behavior of the cystic fibrosis transmembrane conductance regulator (CFTR) channel and abolishes the inhibitory Genistein binding site., J. Biol. Chem.

DTC: CFTR

Version: 02-September-2020

Alternate Names:

Gene Info:

Publications:

Hutt DM et al., 2010, Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis., Nat Chem Biol

Pesce E et al., 2015, Synthesis and structure-activity relationship of aminoarylthiazole derivatives as correctors of the chloride transport defect in cystic fibrosis., Eur J Med Chem

HingoraniCasas: ENSG00000001626
- Version: 31-May-2017
Alternate Names:

ENSG00000001626 Gene Symbol

CFTR Ensembl Id

Gene Info:

Gene Categories:

DRUGGABLE GENOME

Publications:
ChemblInteractions: ABCC7
- Version: chembl_23
Alternate Names:

ABCC7 GENE_SYMBOL

CFTR GENE_SYMBOL

Cystic fibrosis transmembrane conductance regulator UNIPROT

Gene Info:

Publications:
GO: CFTR
- Version: 01-February-2022
Alternate Names:

ABCC7 GO Gene Synonym

Gene Info:

Gene Categories:

CELL SURFACE, ABC TRANSPORTER

Publications:
Tempus: CFTR
- Version: 11-November-2018
Alternate Names:

CFTR Gene Symbol

Gene Info:

Gene Categories:

CLINICALLY ACTIONABLE

Publications:
TTD: cAMP-dependent chloride channel
- Version: 2020.06.01
Alternate Names:

CFTR TTD Gene Abbreviation

T55654 TTD Target ID

Gene Info:

Publications:
Pharos: CFTR
- Version: 01-February-2022
Alternate Names:

Cystic fibrosis transmembrane conductance regulator Gene Name

P13569 UniProt ID

Gene Info:

Gene Categories:

TRANSPORTER, ION CHANNEL

Publications:
FDA: CFTR
- Version: 04-September-2020
Alternate Names:

Gene Info:

Publications:

Trial Name	VX-809
Novel drug target	Established target
Trial Name	VX-809 + VX-770

Mechanism of Interaction	Cystic fibrosis transmembrane conductance regulator positive modulator
Direct Interaction	yes
Combination therapy	Elexacaftor,Ivacaftor,Tezacaftor

ENSG00000001626	Ensembl Gene Id
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP- DEPENDENT CHLORIDE CHANNEL). [SOURCE:UNIPROT/SWISSPROT;ACC:P13569]	Description
CFTR	Display Id

ABCC7	GENE_SYMBOL
CFTR	GENE_SYMBOL
Cystic fibrosis transmembrane conductance regulator	UNIPROT

Cystic fibrosis transmembrane conductance regulator	Gene Name
P13569	UniProt ID

activator (activating)
potentiator

antagonist (inhibitory)
inhibitor (inhibitory)

CFTR Gene Record

CFTR 1080 Druggable Genome

Alternate Names:

Gene Info:

Gene Categories: Category Details

Publications:

Interaction Types & Directionality: modulator

Interaction Info: Trial Name VX-809 Novel drug target Established target Trial Name VX-809 + VX-770

PMIDs: 28325531 27334259 26823392 26137539 22293084 21976485 21825083 24973281 24796242 24561283 24392786 24038832 23891399 22698459 26041577 26416827

Sources: DTC TdgClinicalTrial ChemblInteractions PharmGKB TTD FDA

Interaction Types & Directionality: activator (activating)

Interaction Info: Mechanism of Interaction Cystic fibrosis transmembrane conductance regulator positive modulator Direct Interaction yes Combination therapy Elexacaftor,Ivacaftor,Tezacaftor

PMIDs: 29099344 29099333 28930490 27714410

Sources: ChemblInteractions PharmGKB TTD FDA

Interaction Types & Directionality: activator (activating) potentiator

Interaction Info: Trial Name VX-809 + VX-770 Novel drug target Established target Trial Name VX-770

PMIDs: 22293084 27636560

Sources: TdgClinicalTrial ChemblInteractions TTD FDA

Interaction Types & Directionality: antagonist (inhibitory) inhibitor (inhibitory)

Interaction Info: Mechanism of Interaction Cystic fibrosis transmembrane conductance regulator inhibitor Direct Interaction yes Trial Name crofelemer

PMIDs: 19808995

Sources: TdgClinicalTrial ChemblInteractions TTD

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 26840186 21233271 20622033 18722008

Sources: PharmGKB

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: None found

Sources: TTD

Interaction Types & Directionality: modulator

Interaction Info: Combination therapy Elexacaftor,Ivacaftor,Tezacaftor

PMIDs: None found

Sources: FDA

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: None found

Sources: TTD

Interaction Types & Directionality: activator (activating)

Interaction Info: Direct Interaction yes Mechanism of Interaction Cystic fibrosis transmembrane conductance regulator activator

PMIDs: None found

Sources: ChemblInteractions

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 27035618

Sources: PharmGKB

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 19966789

Sources: DTC

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 19966789

Sources: DTC

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 19966789

Sources: DTC

Interaction Types & Directionality: activator (activating)

Interaction Info:

PMIDs: 12124395 27261451

Sources: NCI PharmGKB

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 19966789

Sources: DTC

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 27007499

Sources: PharmGKB

Ensembl: ENSG00000001626

Alternate Names: CFTR Ensembl Gene Name

Gene Info: Gene Biotype PROTEIN_CODING

Publications:

HopkinsGroom: P13569

Alternate Names: CFTR Uniprot Gene Name CFTR_HUMAN Uniprot Id 1080 Entrez Gene Id

Gene Info: Human Readable Name DRUGGABLE GENOME Interpro Type Domain Uniprot Evidence 1: Evidence at protein level

Gene Categories: ABC TRANSPORTER, DRUGGABLE GENOME

Publications:

TdgClinicalTrial: P13569

Interaction Types & Directionality:

modulator

Interaction Info:

Trial Name VX-809

Novel drug target Established target

Trial Name VX-809 + VX-770

PMIDs:
28325531 27334259 26823392 26137539 22293084 21976485 21825083 24973281 24796242 24561283 24392786 24038832 23891399 22698459 26041577 26416827

Sources:
DTC TdgClinicalTrial ChemblInteractions PharmGKB TTD FDA

Interaction Types & Directionality:

activator (activating)

Interaction Info:

Mechanism of Interaction Cystic fibrosis transmembrane conductance regulator positive modulator

Direct Interaction yes

Combination therapy Elexacaftor,Ivacaftor,Tezacaftor

PMIDs:
29099344 29099333 28930490 27714410

Sources:
ChemblInteractions PharmGKB TTD FDA

Interaction Types & Directionality:

activator (activating)

potentiator

Interaction Info:

Trial Name VX-809 + VX-770

Novel drug target Established target

Trial Name VX-770

PMIDs:
22293084 27636560

Sources:
TdgClinicalTrial ChemblInteractions TTD FDA

Interaction Types & Directionality:

antagonist (inhibitory)

inhibitor (inhibitory)

Interaction Info:

Mechanism of Interaction Cystic fibrosis transmembrane conductance regulator inhibitor

Direct Interaction yes

Trial Name crofelemer

PMIDs:
19808995

Sources:
TdgClinicalTrial ChemblInteractions TTD

Interaction Types & Directionality:

n/a

PMIDs:
26840186 21233271 20622033 18722008

Sources:
PharmGKB

Interaction Types & Directionality:

n/a

PMIDs:
None found

Sources:
TTD

Interaction Types & Directionality:

modulator

Interaction Info:

Combination therapy Elexacaftor,Ivacaftor,Tezacaftor

PMIDs:
None found

Sources:
FDA

Interaction Types & Directionality:

n/a

PMIDs:
None found

Sources:
TTD

Interaction Types & Directionality:

activator (activating)

Interaction Info:

Direct Interaction yes

Mechanism of Interaction Cystic fibrosis transmembrane conductance regulator activator

PMIDs:
None found

Sources:
ChemblInteractions

Interaction Types & Directionality:

n/a

PMIDs:
27035618

Sources:
PharmGKB

Interaction Types & Directionality:

n/a

PMIDs:
19966789

Sources:
DTC

Interaction Types & Directionality:

n/a

PMIDs:
19966789

Sources:
DTC

Interaction Types & Directionality:

n/a

PMIDs:
19966789

Sources:
DTC

Interaction Types & Directionality:

activator (activating)

PMIDs:
12124395 27261451

Sources:
NCI PharmGKB

Interaction Types & Directionality:

n/a

PMIDs:
19966789

Sources:
DTC

Interaction Types & Directionality:

n/a

PMIDs:
27007499

Sources:
PharmGKB

Alternate Names:

CFTR Ensembl Gene Name

Gene Info:

Gene Biotype PROTEIN_CODING

Alternate Names:

CFTR Uniprot Gene Name

CFTR_HUMAN Uniprot Id

1080 Entrez Gene Id

Gene Info:

Human Readable Name DRUGGABLE GENOME

Interpro Type Domain

Uniprot Evidence 1: Evidence at protein level

Gene Categories:

ABC TRANSPORTER, DRUGGABLE GENOME

Alternate Names:

CFTR Gene Symbol

Gene Info:

Target Class Transporters

Target Subclass TC:3.A.1.202.1

Alternate Names:

ENSG00000001626 Ensembl Gene Id

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) (CAMP- DEPENDENT CHLORIDE CHANNEL). [SOURCE:UNIPROT/SWISSPROT;ACC:P13569] Description

CFTR Display Id

Gene Info:

Human Readable Name DRUGGABLE GENOME

Gene Categories:

DRUGGABLE GENOME

Alternate Names:

PA109 PharmGKB ID

Alternate Names:

ENSG00000001626 Gene Symbol

CFTR Ensembl Id

Gene Categories:

DRUGGABLE GENOME

Alternate Names:

ABCC7 GENE_SYMBOL

CFTR GENE_SYMBOL

Cystic fibrosis transmembrane conductance regulator UNIPROT

Alternate Names:

ABCC7 GO Gene Synonym

Gene Categories:

CELL SURFACE, ABC TRANSPORTER

Alternate Names:

CFTR Gene Symbol

Gene Categories:

CLINICALLY ACTIONABLE

Alternate Names:

CFTR TTD Gene Abbreviation

T55654 TTD Target ID

Alternate Names:

Cystic fibrosis transmembrane conductance regulator Gene Name

P13569 UniProt ID

Gene Categories:

TRANSPORTER, ION CHANNEL