CFTR

Chr 7q31.2

CF transmembrane conductance regulator

Aliases:: MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP
MANE:: ENST00000003084.11

OMIM: 602421 ↗NCBI: 1080 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CFTR · P13569

v62025-08-01

Predicted Aligned Error matrix for CFTR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.6/ 100

Confident

1,480 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)42%
Low(50–70)9%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Additional findings reproductive carrier status
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Cystic fibrosis diagnostic test
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Neonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
Non-CF bronchiectasis
BIALLELIC, autosomal or pseudoautosomal
Pancreatitis
BIALLELIC, autosomal or pseudoautosomal

+8 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

cystic fibrosis
0.92
congenital bilateral aplasia of vas deferens from CFTR mutation
0.82
hereditary chronic pancreatitis
0.72
bronchiectasis with or without elevated sweat chloride 1
0.70
congenital bilateral absence of vas deferens
0.60
bronchiectasis
0.56
Diarrhea
0.55
acute lung injury
0.54
Obstructive azoospermia
0.54
cholestasis
0.47

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cystic fibrosis transmembrane conductance regulator

Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:12529365, PubMed:12588899, PubMed:12727866, PubMed:15010471, PubMed:17036051, PubMed:1712898, PubMed:17182731, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:26846474, PubMed:28087700, PubMed:8910473, PubMed:9804160). Possesses an intrinsic ATPase activity and utilizes ATP to gate its channel; the passive flow of anions through the channel is gated by cycles of ATP binding and hydrolysis by the ATP-binding domains (PubMed:11524016, PubMed:15284228, PubMed:26627831, PubMed:8910473). The ion channel is also permeable to HCO(3)(-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). In vitro, mediates ATP-dependent glutathione flux (PubMed:12727866). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22121115, PubMed:22178883, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17182731, PubMed:17434346, PubMed:27941075). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731, PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810, PubMed:29393851)