CFTR Gene

HGNC Family	ATP binding cassette transporters (ABC), Ion channels
Name	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The cystic fibrosis transmembrane conductance regulator (CFTR) is a cyclic AMP‐regulated chloride channel that plays a central role in epithelial ion and fluid transport. In the airways and gastrointestinal tract, CFTR regulates both chloride and bicarbonate secretion, thereby maintaining airway surface liquid hydration and duodenal pH balance. CFTR expression is also intricately regulated at the level of pre‐mRNA splicing by RNA‐binding proteins such as TDP‐43, which can bind UG‐rich motifs and modulate exon inclusion (e.g. exon 9) in the CFTR transcript."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In the endoplasmic reticulum, nascent CFTR undergoes a highly coordinated folding process assisted by molecular chaperones such as Hsp90 and its cochaperones; these interactions are critical for attaining the native conformation and successful trafficking to the plasma membrane."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " When folding fails—as exemplified by the ΔF508 mutant—CFTR is recognized by quality‐control machineries that include ubiquitin ligase complexes which target misfolded proteins for proteasomal degradation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, CFTR plasma membrane stability and function are modulated by interactions with PDZ domain‐containing proteins such as NHERF1, which are essential for proper duodenal bicarbonate secretion."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Structure‐guided approaches have led to the development of small molecules (“correctors”) that stabilize both specific CFTR domains and the interfaces between membrane‐spanning and nucleotide‐binding regions, thereby promoting rescue of ΔF508‐CFTR processing and function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " In addition to modulation of the conventional secretory pathway, CFTR can also be routed to the plasma membrane via an unconventional, GRASP‐dependent pathway triggered by ER stress; activation of this alternative route improves surface expression and function of both wild‐type and ΔF508 CFTR."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Stabilization of CFTR further depends on the synergy between corrected domain energetics and optimal coupling between nucleotide-binding and membrane-spanning domains"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ", and global remodeling of the CFTR interactome appears critical for sustained channel activity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Finally, allelic heterogeneity in the CFTR gene contributes to variable clinical outcomes, underscoring that both genetic and non-genetic factors impacting CFTR biogenesis and activity determine disease severity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "E Buratti, F E Baralle "}, {"type": "b", "children": [{"type": "t", "text": "Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M104236200"}], "href": "https://doi.org/10.1074/jbc.M104236200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11470789"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11470789"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xiaodong Wang, John Venable, Paul LaPointe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2006.09.043"}], "href": "https://doi.org/10.1016/j.cell.2006.09.043"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17110338"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17110338"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "J Michael Younger, Liling Chen, Hong-Yu Ren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2006.06.041"}], "href": "https://doi.org/10.1016/j.cell.2006.06.041"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16901789"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16901789"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Alessandro Luciani, Valeria Rachela Villella, Speranza Esposito, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncb2090"}], "href": "https://doi.org/10.1038/ncb2090"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20711182"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20711182"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Gergely L Lukacs, A S Verkman "}, {"type": "b", "children": [{"type": "t", "text": "CFTR: folding, misfolding and correcting the ΔF508 conformational defect."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Trends Mol Med (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.molmed.2011.10.003"}], "href": "https://doi.org/10.1016/j.molmed.2011.10.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22138491"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22138491"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Tsukasa Okiyoneda, Guido Veit, Johanna F Dekkers, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mechanism-based corrector combination restores ΔF508-CFTR folding and function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Chem Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nchembio.1253"}], "href": "https://doi.org/10.1038/nchembio.1253"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23666117"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23666117"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Heon Yung Gee, Shin Hye Noh, Bor Luen Tang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2011.07.021"}], "href": "https://doi.org/10.1016/j.cell.2011.07.021"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21884936"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21884936"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Wael M Rabeh, Florian Bossard, Haijin Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2011.11.024"}], "href": "https://doi.org/10.1016/j.cell.2011.11.024"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22265408"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22265408"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Sandra Pankow, Casimir Bamberger, Diego Calzolari, et al. "}, {"type": "b", "children": [{"type": "t", "text": "∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature15729"}], "href": "https://doi.org/10.1038/nature15729"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26618866"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26618866"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Patrick R Sosnay, Karen R Siklosi, Fredrick Van Goor, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2745"}], "href": "https://doi.org/10.1038/ng.2745"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23974870"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23974870"}]}]}]}
Synonyms	MRP7, dJ760C5.1, ABCC7, CF, TNR-CFTR, ABC35, CFTR/MRP
Proteins	CFTR_HUMAN
NCBI Gene ID	1080
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CFTR has 12,789 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 133 datasets.

Click the + buttons to view associations for CFTR from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CFTR Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CFTR gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CFTR gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CFTR gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CFTR gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CFTR gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving CFTR protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CFTR gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CFTR gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CFTR gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CFTR gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CFTR gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CFTR gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CFTR gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CFTR gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CFTR gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CFTR gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with CFTR gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CFTR gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CFTR gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CFTR protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CFTR protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CFTR protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CFTR protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing CFTR protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CFTR gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CFTR gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CFTR gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CFTR gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CFTR gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CFTR gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CFTR gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CFTR gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CFTR gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CFTR gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CFTR gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CFTR gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CFTR gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for CFTR protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CFTR gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CFTR gene from the ENCODE Transcription Factor Binding Site Profiles dataset.