CFTR (CF transmembrane conductance regulator)

2007-02-01  

Identity

HGNC
CFTR
LOCATION
7q31.2
LOCUSID
1080
ALIAS
ABC35,ABCC7,CF,CFTR/MRP,MRP7,TNR-CFTR,dJ760C5.1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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
380549922024Risk of CFTR-related disorders and cystic fibrosis in an Italian cohort of CRMS/CFSPID subjects in preschool and school age.0
380736112024Hypoxia-induced cystic fibrosis transmembrane conductance regulator dysfunction is a universal mechanism underlying reduced mucociliary transport in sinusitis.0
381148702024An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.0
382465792024Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.0
382478762024The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.0
382841252024CFTR expression in human salivary gland acinar cells.0
382844502024Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.0
383638652024CFTR is required for zinc-mediated antibacterial defense in human macrophages.1
383725672024The impact of genomic distance on enhancer-promoter interactions at the CFTR locus.0
384930042024CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.0
385423632024Functional Consequences of CFTR Interactions in Cystic Fibrosis.3
386623342024Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.0
386971022024Prime editing functionally corrects cystic fibrosis-causing CFTR mutations in human organoids and airway epithelial cells.0
387344302024Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G: Navigating the discovery of novel mutations.0
388923732024Loss of CFTR Reverses Senescence Hallmarks in SARS-CoV-2 Infected Bronchial Epithelial Cells.0

Citation

Dessen P

CFTR (CF transmembrane conductance regulator)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46468/gene-explorer/js/lib/favicon/apple-touch-icon.png