CFTR (CF transmembrane conductance regulator)

2007-02-01  

Identity

HGNC
LOCATION
7q31.2
LOCUSID
ALIAS
ABC35,ABCC7,CF,CFTR/MRP,MRP7,TNR-CFTR,dJ760C5.1
FUSION GENES

Other Information

Locus ID:

NCBI: 1080
MIM: 602421
HGNC: 1884
Ensembl: ENSG00000001626

Variants:

dbSNP: 1080
ClinVar: 1080
TCGA: ENSG00000001626
COSMIC: CFTR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000001626ENST00000003084P13569
ENSG00000001626ENST00000003084A0A024R730
ENSG00000001626ENST00000426809E7EPB6
ENSG00000001626ENST00000446805C9J6L5
ENSG00000001626ENST00000468795H0Y8A9
ENSG00000001626ENST00000600166M0QYZ3
ENSG00000001626ENST00000647720A0A3B3ITE0
ENSG00000001626ENST00000647978A0A3B3IT97
ENSG00000001626ENST00000648260A0A3B3ITW0
ENSG00000001626ENST00000649406A0A3B3ITW5
ENSG00000001626ENST00000649781P13569

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
Tight junctionKEGGko04530
Vibrio cholerae infectionKEGGko05110
ABC transportersKEGGhsa02010
Tight junctionKEGGhsa04530
Vibrio cholerae infectionKEGGhsa05110
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Defective CFTR causes cystic fibrosisREACTOMER-HSA-5678895
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases regulate CFTR traffickingREACTOMER-HSA-5627083
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA151958596curcuminChemicalClinicalAnnotation, VariantAnnotationassociatedPD27007499
PA165109660genisteinChemicalMultilinkAnnotationassociated27261451
PA165950341ivacaftorChemicalClinicalAnnotation, GuidelineAnnotation, LabelAnnotation, Literature, MultilinkAnnotation, VariantAnnotation, VipGeneambiguousPD22698459, 23313410, 23757359, 23757361, 23891399, 24038832, 24066763, 24298579, 24392786, 24522694, 24561283, 24796242, 24973281, 25311995, 22293084, 23313410, 23440202, 23628510, 23757359, 23757361, 23891399, 24066763, 24433361, 24461666, 24598717, 24656117, 24902474, 25049054, 25103957, 25145599, 25148205, 25171465, 25266159, 25311995, 25682022, 25698453, 25755212, 26324139, 26568242, 26823392, 27007499, 27074519, 27160424, 27334259, 27745802, 27773592, 27812499, 28325531, 28371569, 28611235, 28651844, 28711222, 28930490, 28947035, 29099333, 29099344, 29279204
PA166114483lumacaftorChemicalClinicalAnnotation, MultilinkAnnotation, VipGeneassociatedPD22698459, 23891399, 24038832, 24392786, 24561283, 24796242, 24973281, 21825083, 21976485, 22293084, 26137539, 26823392, 27334259, 28325531
PA166151864atalurenChemicalClinicalAnnotation, MultilinkAnnotationassociatedPD18722008, 20622033, 21233271, 26840186
PA166152935ivacaftor / lumacaftorChemicalClinicalAnnotation, LabelAnnotation, VariantAnnotationassociatedPD24973281, 27298017, 27334259, 28325531, 28606620, 29126871, 29327948, 29451946
PA166153449latonduine aChemicalVariantAnnotationassociatedPD27193581
PA166157516rs75527207VariantVipGeneassociated22698459, 23313410, 23757359, 23757361, 23891399, 24066763, 24298579, 24522694, 25311995, 8910473, 22293084
PA166157525rs113993960VariantLabelAnnotation, VipGeneassociated22698459, 23891399, 23895508, 24038832, 24392786, 24561283, 2475911, 24796242, 24973281, 7511616, 22293084
PA166157536rs199826652VariantLabelAnnotation, VipGeneassociated23895508, 2475911, 7511616, 22698459
PA166159659nppbChemicalVariantAnnotationassociatedPD
PA166163226cavosonstatChemicalClinicalAnnotation, VariantAnnotationambiguousPD28209466
PA166175754tezacaftorChemicalClinicalAnnotationassociatedPD28930490, 29099333, 29099344
PA166179845ivacaftor / tezacaftorChemicalLabelAnnotationassociated
PA166190041elexacaftor / tezacaftor / ivacaftorChemicalLabelAnnotationassociated
PA443829Cystic FibrosisDiseaseClinicalAnnotation, VariantAnnotation, VipGeneambiguousPD21422883, 22293084, 2233932, 22698459, 22723294, 22878883, 23276841, 23313410, 23757359, 23757361, 23891399, 23895508, 24004658, 24014130, 24038832, 24057835, 24066763, 24258833, 24282073, 24298579, 24380236, 24392786, 24461666, 24464978, 24522694, 24561283, 24727426, 24736905, 2475911, 24796242, 24973281, 25171465, 25251804, 25311995, 7511616, 18722008, 19394530, 20622033, 21233271, 21825083, 21976485, 22293084, 23313410, 23628510, 23757359, 23757361, 23891399, 24066763, 24461666, 24902474, 24973281, 25049054, 25145599, 25171465, 25266159, 25311995, 25682022, 25698453, 25755212, 26137539, 26324139, 26568242, 27007499, 27035618, 27160424, 27298017, 27334259, 27745802, 27773592, 27812499, 28209466, 28325531, 28371569, 28606620, 28611235, 28651844, 28711222, 28930490, 28947035, 29099333, 29099344, 29126871, 29279204, 29327948, 29451946
PA449171cysteamineChemicalClinicalAnnotationassociatedPD27035618

References

Pubmed IDYearTitleCitations
171103382006Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis.260
210833852010Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation.257
161274632005Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening.224
183040082008CFTR function and prospects for therapy.217
169017892006Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator.207
205955782010Peripheral protein quality control removes unfolded CFTR from the plasma membrane.192
164436462006Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules.191
207111822010Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.182
218250832012Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation.176
183051542008Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function.171

Citation

Dessen P

CFTR (CF transmembrane conductance regulator)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46468/cftr