CFTR Gene: Cystic Fibrosis Transmembrane Conductance Regulator
Comprehensive guide to CFTR gene function, associated diseases, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | CFTR |
|---|---|
| Full Name | CF transmembrane conductance regulator |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.2 |
| NCBI Gene ID | 1080 ncbi.nlm.nih.gov/gene/1080 |
| Ensembl ID | ENSG00000001626 |
| UniProt ID | P13569 |
| OMIM ID | 602421 |
| HGNC ID | 1884 |
| Aliases | ABC35, ABCC7, CF, CFTR/MRP, dJ760C5.1, TNR-CFTR |
Description
The CFTR gene encodes the cystic fibrosis transmembrane conductance regulator, an ATP-binding cassette (ABC) transporter that functions as a chloride channel and regulates other ion channels. It is primarily expressed in epithelial cells of the airways, pancreas, intestine, sweat ducts, and reproductive tract. Mutations in CFTR cause cystic fibrosis, the most common lethal autosomal recessive disorder in Caucasians, and are also associated with congenital bilateral absence of the vas deferens and other CFTR-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cystic fibrosis | Loss-of-function mutations impair chloride transport, leading to thick mucus, chronic lung infections, pancreatic insufficiency, and male infertility. | ClinVar, OMIM |
| Congenital bilateral absence of the vas deferens (CBAVD) | Mutations such as F508del or R117H reduce CFTR function, causing obstructive azoospermia. | ClinVar, OMIM |
| Chronic pancreatitis | CFTR mutations, especially in combination with SPINK1 or PRSS1 variants, increase susceptibility to recurrent pancreatitis. | ClinVar, OMIM |
| Sweat chloride elevation without CF | Mild CFTR variants can cause elevated sweat chloride without full CF phenotype. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.0 | Not detected |
| Pancreas | 0.0 | Not detected |
| Intestine (small) | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Trachea | 0.0 | Not detected |
| Salivary gland | 0.0 | Not detected |
| Thyroid | 0.0 | Not detected |
| Adrenal gland | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Capan-1 (pancreatic adenocarcinoma) | 0.0 | CFTR expression is low in most cell lines; Capan-1 is a known CFTR-expressing line but nTPM data may be below detection. |
| Calu-3 (lung adenocarcinoma) | 0.0 | Calu-3 is a CFTR-expressing line, but nTPM values are not available. |
| HT-29 (colorectal adenocarcinoma) | 0.0 | Low expression; not detected in RNA-seq. |
| A549 (lung carcinoma) | 0.0 | Not detected. |
| HeLa (cervical carcinoma) | 0.0 | Not detected. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| F508del (c.1521_1523delCTT) | Deletion | ~70% of CF alleles worldwide | Deletion of phenylalanine at position 508; causes protein misfolding and degradation, leading to loss of chloride channel function. |
| G542X (c.1624G>T) | Nonsense | ~2-3% of CF alleles | Premature stop codon; results in truncated non-functional protein. |
| R117H (c.350G>A) | Missense | ~1% of CF alleles | Reduced channel activity; associated with milder CF phenotype and CBAVD. |
| N1303K (c.3909C>G) | Missense | ~1-2% of CF alleles | Impairs protein processing and function. |
| W1282X (c.3846G>A) | Nonsense | ~1% of CF alleles | Premature stop codon; loss of function. |
Mutation functional classification
Loss of Function (LOF)
Most CFTR mutations are loss-of-function, leading to defective chloride transport. Classes I-III (e.g., G542X, F508del, G551D) cause severe CF; classes IV-VI (e.g., R117H, A455E) are milder.
Gain of Function (GOF)
No gain-of-function mutations are clinically recognized for CFTR; all pathogenic variants reduce or abolish function.
Dominant Negative (DN)
CFTR is autosomal recessive; no dominant-negative effects are documented. Heterozygotes are carriers without disease.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • chloride channel activity |
| • ATPase activity | • protein folding |
| • chloride transport | • response to endoplasmic reticulum stress |
| • regulation of ion transmembrane transport | • plasma membrane |
| • apical plasma membrane | • endoplasmic reticulum |
Pathways
• Cystic fibrosis transmembrane conductance regulator (CFTR) pathway
• Chloride transport
• ABC transporters
• Ion channel regulation
• cAMP-mediated signaling
Protein Summary
The CFTR protein is a 1480-amino acid glycoprotein that belongs to the ABC transporter family. It consists of two transmembrane domains, two nucleotide-binding domains, and a regulatory R domain. CFTR functions as a cAMP-regulated chloride channel at the apical membrane of epithelial cells. It also regulates other ion channels, including ENaC and ORCC. Phosphorylation by PKA and ATP binding/hydrolysis at the NBDs regulate channel gating. Mutations affect protein synthesis, folding, trafficking, or channel function, leading to disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFTR Overexpression HEK293 Stable Cell Line | EDJ-GQ78 | Human | 1080 | Details Get a Quote |
| CFTR‐ΔF508 Overexpression HEK293 Stable Cell Line | EDJ-GQ79 | Human | Details Get a Quote | |
| CFTR Knockout HEK293 Cell Line | EDJ-KQ1819 | Human | 1080 | Details Get a Quote |
| CFTR Knockout HeLa Cell Line | EDJ-KQ52879 | Human | 1080 | Details Get a Quote |
| CFTR Knockout A-549 Cell Line | EDJ-KQ61349 | Human | 1080 | Details Get a Quote |
| CFTR Knockout HCT 116 Cell Line | EDJ-KQ69843 | Human | 1080 | Details Get a Quote |
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