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CFTR
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  • CFTR
PROTEIN SUMMARY SECTION OVERVIEW RNA DATA ANTIBODY DATA
Amygdala Basal ganglia Thalamus Midbrain Pons Medulla oblongata Hippocampal formation Spinal cord White matter Cerebral cortex Cerebellum Choroid plexus Hypothalamus Retina Thyroid gland Parathyroid gland Adrenal gland Pituitary gland Lung Salivary gland Esophagus Tongue Stomach Small intestine Duodenum Rectum Colon Liver Gallbladder Pancreas Kidney Urinary bladder Testis Epididymis Prostate Seminal vesicle Vagina Breast Cervix Endometrium Fallopian tube Ovary Placenta Heart muscle Skeletal muscle Smooth muscle Adipose tissue Skin Bone marrow Spleen Lymph node Thymus Tonsil Appendix
CFTR INFORMATION
Proteini

Full gene name according to HGNC.

CF transmembrane conductance regulator
Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

CFTR (ABC35, ABCC7, CF, CFTR/MRP, dJ760C5.1, MRP7, TNR-CFTR)
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

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Cancer-related genes
Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Plasma proteins
Transporters
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

9
Protein evidence Evidence at protein level (all genes)
PROTEIN EXPRESSION AND LOCALIZATION
Tissue profilei

A summary of the overall protein expression profile across the analyzed normal tissues based on knowledge-based annotation, presented in the Tissue section.

"Estimation of protein expression could not be performed. View primary data." is shown for genes where available RNA-seq and gene/protein characterization data in combination with immunohistochemistry data has been evaluated as not sufficient to yield a reliable estimation of the protein expression profile.
Membranous expression in pancreatic intercalated ducts, gallbladder and salivary gland.
Subcellular location Not available
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

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Intracellular, Membrane (different isoforms)
TISSUE RNA EXPRESSION
Tissue specificityi

The RNA specificity category is based on normalized mRNA expression levels in the consensus dataset, calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

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Tissue enhanced (gallbladder, intestine, pancreas)
Tissue expression clusteri

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

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Pancreas - Digestion (mainly)
Brain specificityi

The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category

Read more
Low human brain regional specificity
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Read more
Group enriched (Ductal cells, Late spermatids)
Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

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Pancreatic cells - Mixed function (mainly)
Tissue cell type classificationi

Genes can have enriched specificity in different cell types in one or several tissues, or be enriched in a core cell type that appears in many different tissues.

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Cell type enriched (Adipose visceral - Mesothelial cells, Breast - Breast glandular cells, Colon - Colon enterocytes, Lung - Alveolar cells type 2, Skin - Eccrine sweat gland cells)
IMMUNE CELLS
Immune cell specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

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Not detected in immune cells
Immune cell
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

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Not detected - no cluster assigned
CANCER & CELL LINES
Prognostic summary Prognostic marker in liver cancer (unfavorable) Liver cancer p<0.001
Cancer specificityi

Specificity of RNA expression in 17 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity and not detected.

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Cancer enhanced (colorectal cancer, pancreatic cancer)
Cell line
expression clusteri

The RNA data was used to cluster genes according to their expression across cell lines. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Read more
Stomach & Colon cancer - Absorption (mainly)
Cell line specificityi

RNA specificity category based on RNA sequencing data from cancer cell lines in the Human Protein Atlas grouped according to type of cancer. Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines.

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Cancer enhanced (Colorectal cancer, Gastric cancer)
PROTEINS IN BLOOD
Detected in blood by
immunoassayi

The blood-based immunoassay category applies to actively secreted proteins and is based on plasma or serum protein concentrations established with enzyme-linked immunosorbent assays, compiled from a literature search. The categories include: detected and not detected, where detection refers to a concentration found in the literature search.

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No (not applicable)
Detected in blood by
mass spectrometryi

Detection or not of the gene in blood, based on spectral count estimations from a publicly available mass spectrometry-based plasma proteomics data set obtained from the PeptideAtlas.

No
Detected in blood by
proximity extension assayi

Detection or not of the gene in blood, based on proximity extension assays (Olink) for a longitudinal wellness study covering 76 individuals with three visits during two years.

Read more
No
PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis 1. Mediates the transport of chloride ions across the cell membrane 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19. Channel activity is coupled to ATP hydrolysis 20. The ion channel is also permeable to HCO(3)(-); selectivity depends on the extracellular chloride concentration 21, 22. Exerts its function also by modulating the activity of other ion channels and transporters 23, 24, 25, 26. Plays an important role in airway fluid homeostasis 27, 28, 29. 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 30, 31, 32. Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex 33, 34, 35. Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G 36. 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 37. 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 38. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 39. Can inhibit the chloride channel activity of ANO1 40. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation 41, 42.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Chloride channel, Ion channel, Isomerase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Ion transport, Transport
Disease involvementi

Disease related keywords assigned by UniProt combined with Cancer-related genes and FDA approved drug targets

Read more
Cancer-related genes, Disease variant, FDA approved drug targets
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

ATP-binding, Chloride, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less

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