Tissue expression of CFTR - Summary - The Human Protein Atlas

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CFTR

TISSUE

SUBCELL

CELL LINE

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN ANTIBODY/ANTIGEN


Dictionary

GENERAL INFORMATION ? »
Protein class Protein class the gene product belongs to according to selected gene lists. List of protein classes. Predicted localization Protein localization predicted from several bioinformatic algorithms. More info... Number of transcripts Number of protein-coding transcribed from this gene as defined by Ensembl.
Gene name	CFTR
Gene description	Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Protein class	Cancer-related genes Disease related genes Enzymes FDA approved drug targets Plasma proteins Predicted intracellular proteins Predicted membrane proteins Transporters
Predicted localization	Intracellular,Membrane
Number of transcripts	5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:	Tissue enhanced (gallbladder, pancreas)
GTEx:	Tissue enhanced (colon, pancreas)

Protein evidence

Evidence at protein level

Protein localization

Low cytoplasmic expression in several tissues, high membranous expression in pancreatic intercalated ducts, gallbladder and salivary gland.

ANTIBODY RELIABILITY ? »
Data reliability description Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based annotation, indicated by "Pending RNA-based expert annotation", when applicable. Data reliability Data reliability score (score description), divided into supportive (premium) or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.
Data reliability description	Antibody staining mainly consistent with RNA expression data. Paired antibodies with high similarity supports the protein profile. Pending retesting.
Data reliability	Supportive based on 2 antibodies. HPA021939 , CAB001951
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Lateral ventricle

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

N/A

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

N/A

Prostate

Seminal vesicle

N/A

Female tissues

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

PROTEIN EXPRESSION OVERVIEW

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Organ

Expression

RNA EXPRESSION OVERVIEW

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HPA dataset

RNA tissue category:

Tissue enhanced (gallbladder, pancreas)

Organ

Expression

GTEx dataset

RNA tissue category:

Tissue enhanced (colon, pancreas)

Organ

Expression

GENE INFORMATION ? »
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name	CFTR (HGNC Symbol)
Synonyms	ABC35, ABCC7, CF, CFTR/MRP, dJ760C5.1, MRP7, TNR-CFTR
Description	Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]
Chromosome	7
Cytoband
Chromosome location (bp)	117465784 - 117715971
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000001626 (version 78.38)
Entrez gene	1080
UniProt	P13569 (UniProt - Evidence at protein level)
neXtProt	NX_P13569
Antibodypedia	CFTR antibodies

PROTEIN BROWSER

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ENST00000003084		ENST00000426809		ENST00000446805		ENST00000468795		ENST00000600166

PROTEIN INFORMATION

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Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
CFTR-001	ENSP00000003084 ENST00000003084	P13569 Show all » « Hide P13569 [Direct mapping] Cystic fibrosis transmembrane conductance regulator A0A024R730 [Target identity:100%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (Sub-family C, member 7), isoform CRA_b {ECO:0000313\|EMBL:EAW83531.1} Q99989 [Target identity:67%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000256\|RuleBase:RU000684} Q5I6N4 [Target identity:28%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313\|EMBL:AAW33659.1} Q5I6N5 [Target identity:27%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313\|EMBL:AAW33658.1} Q5I6N7 [Target identity:17%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313\|EMBL:AAW33656.1} Q5I6N6 [Target identity:16%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313\|EMBL:AAW33657.1} Q6KEF9 [Target identity:16%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00702.1} Q5I6F9 [Target identity:10%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313\|EMBL:AAW33655.1}; Cystic fibrosis transmembrane conductance regulator/ATP-binding cassette sub-family C member 7 {ECO:0000313\|EMBL:AAW33782.1} Q6KEE7 [Target identity:5%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00714.1} Q6KEH8 [Target identity:5%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00683.1} Q6KED3 [Target identity:5%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00728.1} Q6KEC3 [Target identity:5%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00738.2} Q6KEJ1 [Target identity:4%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00670.1} Q6KEG9 [Target identity:4%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00692.1} Q6KEH3 [Target identity:4%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00688.1} Q6KE95 [Target identity:4%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00766.1} A4L9V0 [Target identity:3%; Query identity:100%] Truncated cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:ABO61515.1} Q6KED8 [Target identity:3%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00723.1} Q6KEA5 [Target identity:3%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00756.1} Q6KEI8 [Target identity:3%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00673.1} Q6KEB8 [Target identity:3%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00743.1} Q6KEH6 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00685.1} Q9UJ19 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:AAB59382.1} C9J6L5 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|Ensembl:ENSP00000417012} Q6KEJ7 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00664.1} Q6KEJ4 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00667.1} Q6KEI7 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00674.1} Q6KEI2 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00679.1} Q6KEG6 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00695.1} Q6KEA0 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00761.1} Q6KEF5 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00706.1} Q6KEB2 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00749.1} Q6KEC8 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00733.1} Q6KEG3 [Target identity:1%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00698.1} Q6KEE3 [Target identity:1%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00718.1} Q9UML7 [Target identity:1%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:AAC41928.1}	Show » « Hide Enzymes ENZYME proteins Hydrolases Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005224 [ATP-binding and phosphorylation-dependent chloride channel activity] GO:0005254 [chloride channel activity] GO:0005260 [channel-conductance-controlling ATPase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005886 [plasma membrane] GO:0005902 [microvillus] GO:0006200 [ATP catabolic process] GO:0006695 [cholesterol biosynthetic process] GO:0006810 [transport] GO:0006821 [chloride transport] GO:0006833 [water transport] GO:0007585 [respiratory gaseous exchange] GO:0009986 [cell surface] GO:0015106 [bicarbonate transmembrane transporter activity] GO:0015108 [chloride transmembrane transporter activity] GO:0015701 [bicarbonate transport] GO:0015705 [iodide transport] GO:0016021 [integral component of membrane] GO:0016323 [basolateral plasma membrane] GO:0016324 [apical plasma membrane] GO:0016887 [ATPase activity] GO:0019869 [chloride channel inhibitor activity] GO:0019899 [enzyme binding] GO:0030165 [PDZ domain binding] GO:0030301 [cholesterol transport] GO:0030321 [transepithelial chloride transport] GO:0030324 [lung development] GO:0030659 [cytoplasmic vesicle membrane] GO:0031205 [endoplasmic reticulum Sec complex] GO:0032870 [cellular response to hormone stimulus] GO:0034097 [response to cytokine] GO:0034707 [chloride channel complex] GO:0042311 [vasodilation] GO:0042493 [response to drug] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0043234 [protein complex] GO:0043434 [response to peptide hormone] GO:0043627 [response to estrogen] GO:0045909 [positive regulation of vasodilation] GO:0048240 [sperm capacitation] GO:0051454 [intracellular pH elevation] GO:0055085 [transmembrane transport] GO:0060081 [membrane hyperpolarization] GO:0070062 [extracellular vesicular exosome] GO:0071320 [cellular response to cAMP] GO:1902476 [chloride transmembrane transport] GO:1902943 [positive regulation of voltage-gated chloride channel activity]	1480	168.1	No	>9
CFTR-002	ENSP00000419254 ENST00000468795	Q6KEC3 Show all » « Hide Q6KEC3 [Target identity:43%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00738.2} Q6KEC8 [Target identity:17%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00733.1}	Show » « Hide Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005524 [ATP binding] GO:0006810 [transport] GO:0016021 [integral component of membrane] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0055085 [transmembrane transport]	190	21.6	No	2
CFTR-004	ENSP00000417012 ENST00000446805	C9J6L5 Show all » « Hide C9J6L5 [Target identity:97%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|Ensembl:ENSP00000417012}	Show » « Hide Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		37	4.2	No	0
CFTR-005	ENSP00000389119 ENST00000426809	E7EPB6 Show all » « Hide E7EPB6 [Target identity:100%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000256\|RuleBase:RU000684} Q5I6N4 [Target identity:29%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313\|EMBL:AAW33659.1} Q5I6N5 [Target identity:28%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313\|EMBL:AAW33658.1} Q5I6N7 [Target identity:17%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 {ECO:0000313\|EMBL:AAW33656.1} Q6KEF9 [Target identity:16%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00702.1} Q6KEH8 [Target identity:5%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00683.1} Q6KEC3 [Target identity:5%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00738.2} Q6KED3 [Target identity:5%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00728.1} Q6KEE7 [Target identity:5%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00714.1} Q6KEJ1 [Target identity:5%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00670.1} Q6KEH3 [Target identity:4%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00688.1} Q6KEG9 [Target identity:4%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00692.1} Q6KEA5 [Target identity:4%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00756.1} A4L9V0 [Target identity:3%; Query identity:100%] Truncated cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:ABO61515.1} Q6KEI8 [Target identity:3%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00673.1} Q6KED8 [Target identity:3%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00723.1} Q6KEB8 [Target identity:3%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00743.1} Q6KEJ4 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00667.1} Q6KEI2 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00679.1} Q6KEJ7 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00664.1} Q9UJ19 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:AAB59382.1} C9J6L5 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|Ensembl:ENSP00000417012} Q6KEH6 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00685.1} Q6KEG6 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00695.1} Q6KEF5 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00706.1} Q6KEC8 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00733.1} Q6KEB2 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00749.1} Q6KEA0 [Target identity:2%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00761.1} Q6KEG3 [Target identity:1%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00698.1} Q6KEE3 [Target identity:1%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00718.1} Q9UML7 [Target identity:1%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:AAC41928.1}	Show » « Hide Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005260 [channel-conductance-controlling ATPase activity] GO:0005524 [ATP binding] GO:0006200 [ATP catabolic process] GO:0006810 [transport] GO:0016021 [integral component of membrane] GO:0016887 [ATPase activity] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0055085 [transmembrane transport] GO:1902476 [chloride transmembrane transport]	1438	163.4	No	>9
CFTR-008	ENSP00000470177 ENST00000600166	Q6KEA5 Show all » « Hide Q6KEA5 [Target identity:37%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00756.1} Q6KEA0 [Target identity:22%; Query identity:100%] Cystic fibrosis transmembrane conductance regulator {ECO:0000313\|EMBL:CAE00761.1}	Show » « Hide Phobius predicted membrane proteins Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005524 [ATP binding] GO:0016887 [ATPase activity]	156	17.4	No	0

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.

Protein class

Predicted localization

Number of transcripts

RNA tissue category

Protein evidence

Protein localization

Data reliability description

Data reliability

RNA expression (FPKM)

Protein expression (score)

HPA dataset

RNA tissue category HPA

GTEx dataset

RNA tissue category GTEx