Summary | |
---|---|
Symbol | CFTR |
Name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Aliases | ABC35; TNR-CFTR; CFTR/MRP; ATP-binding cassette sub-family C, member 7; CF; ABCC7; cystic fibrosis transmemb ...... |
Chromosomal Location | 7q31.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | Apical cell membrane Multi-pass membrane protein Early endosome membrane Multi-pass membrane protein Cell membrane Multi-pass membrane protein Recycling endosome membrane Multi-pass membrane protein Endoplasmic reticulum membrane Multi-pass membrane protein Nucleus Note=The channel is internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (PubMed:17462998, PubMed:19398555, PubMed:20008117). In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia (PubMed:22207244). In Sertoli cells, a processed product is detected in the nucleus (By similarity). |
Domain |
PF00664 ABC transporter transmembrane region PF00005 ABC transporter PF14396 Cystic fibrosis TM conductance regulator (CFTR) |
Function |
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:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, 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:17434346, PubMed:27941075, PubMed:17182731). 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: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). |
Biological Process |
GO:0001678 cellular glucose homeostasis GO:0002790 peptide secretion GO:0002791 regulation of peptide secretion GO:0002793 positive regulation of peptide secretion GO:0006066 alcohol metabolic process GO:0006694 steroid biosynthetic process GO:0006695 cholesterol biosynthetic process GO:0006820 anion transport GO:0006821 chloride transport GO:0006869 lipid transport GO:0006885 regulation of pH GO:0006887 exocytosis GO:0006904 vesicle docking involved in exocytosis GO:0007281 germ cell development GO:0007283 spermatogenesis GO:0007286 spermatid development GO:0007585 respiratory gaseous exchange GO:0008202 steroid metabolic process GO:0008203 cholesterol metabolic process GO:0009306 protein secretion GO:0009743 response to carbohydrate GO:0009746 response to hexose GO:0009749 response to glucose GO:0009914 hormone transport GO:0010359 regulation of anion channel activity GO:0010469 regulation of receptor activity GO:0010817 regulation of hormone levels GO:0010876 lipid localization GO:0014074 response to purine-containing compound GO:0015698 inorganic anion transport GO:0015701 bicarbonate transport GO:0015711 organic anion transport GO:0015833 peptide transport GO:0015850 organic hydroxy compound transport GO:0015918 sterol transport GO:0016125 sterol metabolic process GO:0016126 sterol biosynthetic process GO:0017157 regulation of exocytosis GO:0021700 developmental maturation GO:0022406 membrane docking GO:0022412 cellular process involved in reproduction in multicellular organism GO:0022898 regulation of transmembrane transporter activity GO:0023061 signal release GO:0030004 cellular monovalent inorganic cation homeostasis GO:0030072 peptide hormone secretion GO:0030073 insulin secretion GO:0030301 cholesterol transport GO:0030641 regulation of cellular pH GO:0032024 positive regulation of insulin secretion GO:0032409 regulation of transporter activity GO:0032411 positive regulation of transporter activity GO:0032412 regulation of ion transmembrane transporter activity GO:0032414 positive regulation of ion transmembrane transporter activity GO:0032844 regulation of homeostatic process GO:0032846 positive regulation of homeostatic process GO:0033500 carbohydrate homeostasis GO:0034284 response to monosaccharide GO:0034762 regulation of transmembrane transport GO:0034764 positive regulation of transmembrane transport GO:0034765 regulation of ion transmembrane transport GO:0034767 positive regulation of ion transmembrane transport GO:0035773 insulin secretion involved in cellular response to glucose stimulus GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0042391 regulation of membrane potential GO:0042593 glucose homeostasis GO:0042886 amide transport GO:0043270 positive regulation of ion transport GO:0044070 regulation of anion transport GO:0044283 small molecule biosynthetic process GO:0045852 pH elevation GO:0045921 positive regulation of exocytosis GO:0046165 alcohol biosynthetic process GO:0046683 response to organophosphorus GO:0046879 hormone secretion GO:0046883 regulation of hormone secretion GO:0046887 positive regulation of hormone secretion GO:0048232 male gamete generation GO:0048240 sperm capacitation GO:0048278 vesicle docking GO:0048469 cell maturation GO:0048515 spermatid differentiation GO:0050708 regulation of protein secretion GO:0050714 positive regulation of protein secretion GO:0050796 regulation of insulin secretion GO:0051047 positive regulation of secretion GO:0051222 positive regulation of protein transport GO:0051453 regulation of intracellular pH GO:0051454 intracellular pH elevation GO:0051591 response to cAMP GO:0055067 monovalent inorganic cation homeostasis GO:0060081 membrane hyperpolarization GO:0060627 regulation of vesicle-mediated transport GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus GO:0071320 cellular response to cAMP GO:0071322 cellular response to carbohydrate stimulus GO:0071326 cellular response to monosaccharide stimulus GO:0071331 cellular response to hexose stimulus GO:0071333 cellular response to glucose stimulus GO:0071407 cellular response to organic cyclic compound GO:0071417 cellular response to organonitrogen compound GO:0090087 regulation of peptide transport GO:0090276 regulation of peptide hormone secretion GO:0090277 positive regulation of peptide hormone secretion GO:0098656 anion transmembrane transport GO:0098661 inorganic anion transmembrane transport GO:1901529 positive regulation of anion channel activity GO:1901615 organic hydroxy compound metabolic process GO:1901617 organic hydroxy compound biosynthetic process GO:1902159 regulation of cyclic nucleotide-gated ion channel activity GO:1902161 positive regulation of cyclic nucleotide-gated ion channel activity GO:1902476 chloride transmembrane transport GO:1902652 secondary alcohol metabolic process GO:1902653 secondary alcohol biosynthetic process GO:1902941 regulation of voltage-gated chloride channel activity GO:1902943 positive regulation of voltage-gated chloride channel activity GO:1903532 positive regulation of secretion by cell GO:1903793 positive regulation of anion transport GO:1903795 regulation of inorganic anion transmembrane transport GO:1903797 positive regulation of inorganic anion transmembrane transport GO:1903959 regulation of anion transmembrane transport GO:1903961 positive regulation of anion transmembrane transport GO:1904951 positive regulation of establishment of protein localization GO:2000273 positive regulation of receptor activity GO:2001225 regulation of chloride transport |
Molecular Function |
GO:0005216 ion channel activity GO:0005217 intracellular ligand-gated ion channel activity GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity GO:0005253 anion channel activity GO:0005254 chloride channel activity GO:0005260 channel-conductance-controlling ATPase activity GO:0008200 ion channel inhibitor activity GO:0008509 anion transmembrane transporter activity GO:0008514 organic anion transmembrane transporter activity GO:0015103 inorganic anion transmembrane transporter activity GO:0015106 bicarbonate transmembrane transporter activity GO:0015108 chloride transmembrane transporter activity GO:0015267 channel activity GO:0015276 ligand-gated ion channel activity GO:0015399 primary active transmembrane transporter activity GO:0015405 P-P-bond-hydrolysis-driven transmembrane transporter activity GO:0016247 channel regulator activity GO:0016248 channel inhibitor activity GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances GO:0016887 ATPase activity GO:0017081 chloride channel regulator activity GO:0019869 chloride channel inhibitor activity GO:0022803 passive transmembrane transporter activity GO:0022804 active transmembrane transporter activity GO:0022834 ligand-gated channel activity GO:0022836 gated channel activity GO:0022838 substrate-specific channel activity GO:0022853 active ion transmembrane transporter activity GO:0030165 PDZ domain binding GO:0042623 ATPase activity, coupled GO:0042625 ATPase coupled ion transmembrane transporter activity GO:0042626 ATPase activity, coupled to transmembrane movement of substances GO:0043225 ATPase-coupled anion transmembrane transporter activity GO:0043492 ATPase activity, coupled to movement of substances |
Cellular Component |
GO:0005765 lysosomal membrane GO:0005769 early endosome GO:0005791 rough endoplasmic reticulum GO:0005798 Golgi-associated vesicle GO:0010008 endosome membrane GO:0016323 basolateral plasma membrane GO:0016324 apical plasma membrane GO:0030660 Golgi-associated vesicle membrane GO:0030867 rough endoplasmic reticulum membrane GO:0031205 endoplasmic reticulum Sec complex GO:0031901 early endosome membrane GO:0034702 ion channel complex GO:0034707 chloride channel complex GO:0044440 endosomal part GO:0045177 apical part of cell GO:0055037 recycling endosome GO:0098852 lytic vacuole membrane GO:1902495 transmembrane transporter complex GO:1990351 transporter complex |
KEGG |
hsa02010 ABC transporters hsa04024 cAMP signaling pathway hsa04152 AMPK signaling pathway hsa04530 Tight junction hsa04971 Gastric acid secretion hsa04972 Pancreatic secretion hsa04976 Bile secretion |
Reactome |
R-HSA-5619084: ABC transporter disorders R-HSA-382556: ABC-family proteins mediated transport R-HSA-8856825: Cargo recognition for clathrin-mediated endocytosis R-HSA-8856828: Clathrin-mediated endocytosis R-HSA-5678895: Defective CFTR causes cystic fibrosis R-HSA-5688426: Deubiquitination R-HSA-1643685: Disease R-HSA-5619115: Disorders of transmembrane transporters R-HSA-199991: Membrane Trafficking R-HSA-392499: Metabolism of proteins R-HSA-597592: Post-translational protein modification R-HSA-195258: RHO GTPase Effectors R-HSA-5627083: RHO GTPases regulate CFTR trafficking R-HSA-162582: Signal Transduction R-HSA-194315: Signaling by Rho GTPases R-HSA-382551: Transmembrane transport of small molecules R-HSA-5689880: Ub-specific processing proteases R-HSA-5653656: Vesicle-mediated transport |
Summary | |
---|---|
Symbol | CFTR |
Name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Aliases | ABC35; TNR-CFTR; CFTR/MRP; ATP-binding cassette sub-family C, member 7; CF; ABCC7; cystic fibrosis transmemb ...... |
Chromosomal Location | 7q31.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Literatures that report relations between CFTR and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells. |
There is no record. |
Summary | |
---|---|
Symbol | CFTR |
Name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Aliases | ABC35; TNR-CFTR; CFTR/MRP; ATP-binding cassette sub-family C, member 7; CF; ABCC7; cystic fibrosis transmemb ...... |
Chromosomal Location | 7q31.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets. |
> High-throughput Screening
[ TOP ]
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Statistical results of CFTR in screening data sets for detecting immune reponses.
|
Summary | |
---|---|
Symbol | CFTR |
Name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Aliases | ABC35; TNR-CFTR; CFTR/MRP; ATP-binding cassette sub-family C, member 7; CF; ABCC7; cystic fibrosis transmemb ...... |
Chromosomal Location | 7q31.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders |
Points in the above scatter plot represent the expression difference of CFTR in various data sets.
|
Points in the above scatter plot represent the mutation difference of CFTR in various data sets.
|
Summary | |
---|---|
Symbol | CFTR |
Name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Aliases | ABC35; TNR-CFTR; CFTR/MRP; ATP-binding cassette sub-family C, member 7; CF; ABCC7; cystic fibrosis transmemb ...... |
Chromosomal Location | 7q31.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of CFTR. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene. |
Summary | |
---|---|
Symbol | CFTR |
Name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Aliases | ABC35; TNR-CFTR; CFTR/MRP; ATP-binding cassette sub-family C, member 7; CF; ABCC7; cystic fibrosis transmemb ...... |
Chromosomal Location | 7q31.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of CFTR. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by CFTR. > Immunoinhibitor > Immunostimulator > MHC molecule |
Summary | |
---|---|
Symbol | CFTR |
Name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Aliases | ABC35; TNR-CFTR; CFTR/MRP; ATP-binding cassette sub-family C, member 7; CF; ABCC7; cystic fibrosis transmemb ...... |
Chromosomal Location | 7q31.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of CFTR. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor |
Summary | |
---|---|
Symbol | CFTR |
Name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Aliases | ABC35; TNR-CFTR; CFTR/MRP; ATP-binding cassette sub-family C, member 7; CF; ABCC7; cystic fibrosis transmemb ...... |
Chromosomal Location | 7q31.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of CFTR expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
---|---|
Symbol | CFTR |
Name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Aliases | ABC35; TNR-CFTR; CFTR/MRP; ATP-binding cassette sub-family C, member 7; CF; ABCC7; cystic fibrosis transmemb ...... |
Chromosomal Location | 7q31.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between CFTR and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
---|---|
Symbol | CFTR |
Name | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Aliases | ABC35; TNR-CFTR; CFTR/MRP; ATP-binding cassette sub-family C, member 7; CF; ABCC7; cystic fibrosis transmemb ...... |
Chromosomal Location | 7q31.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting CFTR collected from DrugBank database. |
Details on drugs targeting CFTR.
|