Menu
GeneBe

CFTR

CF transmembrane conductance regulator, the group of ATP binding cassette subfamily C|Chloride channels, ATP-gated CFTR

Basic information

Region (hg38): 7:117287119-117715971

Previous symbols: [ "CF", "ABCC7" ]

Links

ENSG00000001626 ∙ NCBI:1080 ∙ OMIM:602421 ∙ HGNC:1884 ∙ Uniprot:P13569 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • cystic fibrosis (Supportive), mode of inheritance: AR
  • congenital bilateral absence of vas deferens (Supportive), mode of inheritance: AR
  • cystic fibrosis (Definitive), mode of inheritance: AR
  • cystic fibrosis (Strong), mode of inheritance: AR
  • hereditary chronic pancreatitis (Limited), mode of inheritance: AD
  • cystic fibrosis (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Cystic fibrosisARAllergy/Immunology/Infectious; Endocrine; Gastrointestinal; PulmonaryEarly and aggressive multisystem management of pulmonary (with attention to infectious risks), pancreatic, and other manifestations can reduce morbidity and mortality; In the instance of specific variants, targeted therapy (eg, ivacaftor) has been described as beneficialAllergy/Immunology/Infectious; Endocrine; Gastrointestinal; Genitourinary; Pulmonary5657013; 2296270; 1870650; 1284639; 1359500; 7678316; 7680769; 7739684; 7529962; 7539210; 9003498; 9395429; 9113931; 9150159; 9550361; 18685558; 9725921; 11134427; 12768409; 15948195; 17018651; 16778595; 17202412; 7413420; 18685558; 21083385; 21184098; 22047557; 22383668; 22942289; 23590265; 23616732; 23616952; 23757359; 23952705; 24004658; 24039402

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFTR gene.

  • Cystic fibrosis (3969 variants)
  • not provided (908 variants)
  • CFTR-related disorders (836 variants)
  • not specified (774 variants)
  • Bronchiectasis with or without elevated sweat chloride 1 (358 variants)
  • Hereditary pancreatitis (125 variants)
  • Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis (108 variants)
  • CFTR-related condition (88 variants)
  • Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation (76 variants)
  • Congenital bilateral aplasia of vas deferens from CFTR mutation (60 variants)
  • Cystic fibrosis;CFTR-related disorders (46 variants)
  • Inborn genetic diseases (45 variants)
  • CFTR-related disorders;Cystic fibrosis (36 variants)
  • Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation (33 variants)
  • ivacaftor response - Efficacy (32 variants)
  • Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis (29 variants)
  • Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis;Cystic fibrosis (27 variants)
  • Obstructive azoospermia (17 variants)
  • Hereditary pancreatitis;Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation (10 variants)
  • Cystic fibrosis;Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation (8 variants)
  • Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis;Hereditary pancreatitis (7 variants)
  • Cystic fibrosis;Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1 (7 variants)
  • Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis;Cystic fibrosis (6 variants)
  • Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation (6 variants)
  • Infertility disorder (5 variants)
  • - (5 variants)
  • Lung disease, non-specific (4 variants)
  • Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Hereditary pancreatitis (4 variants)
  • See cases (3 variants)
  • Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1 (3 variants)
  • Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis;Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation (3 variants)
  • Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis (3 variants)
  • Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis (3 variants)
  • Hereditary pancreatitis;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Bronchiectasis with or without elevated sweat chloride 1 (2 variants)
  • Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1 (2 variants)
  • Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis (2 variants)
  • Chronic sinusitis (2 variants)
  • Pancreatitis (2 variants)
  • Megacolon (2 variants)
  • Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis (2 variants)
  • Bronchiectasis with or without elevated sweat chloride 1, modifier of (2 variants)
  • Spermatogenic failure, Y-linked, 2 (2 variants)
  • Congenital bilateral absence of vas deferens (2 variants)
  • Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis (2 variants)
  • Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis;Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1 (2 variants)
  • Duodenal stenosis (1 variants)
  • Bronchiectasis with or without elevated sweat chloride 1;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis (1 variants)
  • Congenital bilateral aplasia of vas deferens from CFTR mutation;Cystic fibrosis;Hereditary pancreatitis;Bronchiectasis with or without elevated sweat chloride 1 (1 variants)
  • Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1;Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis (1 variants)
  • ivacaftor / lumacaftor response - Efficacy (1 variants)
  • Congenital bilateral aplasia of vas deferens from CFTR mutation;Hereditary pancreatitis;Cystic fibrosis (1 variants)
  • Hereditary pancreatitis;Cystic fibrosis (1 variants)
  • Pancreatitis, idiopathic, susceptibility to (1 variants)
  • Recurrent pancreatitis (1 variants)
  • Cystic fibrosis;Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis;Congenital bilateral aplasia of vas deferens from CFTR mutation (1 variants)
  • Sweat chloride elevation without cystic fibrosis (1 variants)
  • Hereditary pancreatitis;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation (1 variants)
  • Abnormality of the pancreas (1 variants)
  • Abnormality of metabolism/homeostasis (1 variants)
  • Hypertrypsinemia, neonatal, susceptibility to (1 variants)
  • ivacaftor / tezacaftor response - Efficacy (1 variants)
  • Fetal cystic hygroma (1 variants)
  • Male infertility (1 variants)
  • Breast neoplasm (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFTR gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
14
clinvar
670
clinvar
1
clinvar
 685
missense
118
clinvar
70
clinvar
1332
clinvar
7
clinvar
 1527
nonsense
190
clinvar
81
clinvar
1
clinvar
 272
start loss
5
clinvar
1
clinvar
 6
frameshift
298
clinvar
129
clinvar
 427
inframe indel
8
clinvar
8
clinvar
33
clinvar
1
clinvar
 50
splice donor/acceptor (+/-2bp)
81
clinvar
63
clinvar
2
clinvar
 146
splice region
?
    Intron variants in splice region, excluding donor/acceptor (+/-2bp)
19
6
72
85
4
 186
non coding
?
    UTR, intron and other, non coding variants
12
clinvar
4
clinvar
175
clinvar
276
clinvar
63
clinvar
 530
Total 712 356 1557 954 64

Highest pathogenic variant AF is 0.00788

Variants in CFTR

This is a list of pathogenic ClinVar variants found in the CFTR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
7-117297673-C-T Benign (Jun 13, 2018)774454
7-117297734-A-G not specified Uncertain significance (Nov 03, 2022)2322199
7-117297776-G-A not specified Uncertain significance (Feb 28, 2024)3190716
7-117315142-C-A not specified Uncertain significance (Oct 25, 2023)3190715
7-117315153-C-T not specified Uncertain significance (Jul 12, 2022)2256004
7-117315241-T-C not specified Uncertain significance (Aug 17, 2021)2246172
7-117315342-C-T not specified Uncertain significance (Dec 19, 2022)2204334
7-117320674-C-G not specified Uncertain significance (Aug 12, 2022)2306937
7-117320690-G-A not specified Uncertain significance (May 30, 2023)2525075
7-117320789-T-C not specified Uncertain significance (Oct 13, 2023)3190717
7-117363736-G-A not specified Uncertain significance (May 25, 2022)2411577
7-117363748-A-G not specified Likely benign (Feb 27, 2024)3130631
7-117368625-A-C not specified Uncertain significance (Aug 10, 2021)2412373
7-117368682-T-C not specified Uncertain significance (Nov 30, 2021)2211561
7-117368717-A-G not specified Likely benign (Jul 12, 2023)2611406
7-117379945-C-T not specified Uncertain significance (Mar 22, 2022)2339722
7-117381034-T-C not specified Uncertain significance (May 01, 2022)2286967
7-117382088-T-C not specified Uncertain significance (Dec 27, 2023)3130635
7-117383044-C-T not specified Uncertain significance (Jun 06, 2023)2557402
7-117383071-C-G not specified Uncertain significance (Jan 03, 2022)2268996
7-117384751-A-G not specified Uncertain significance (Jun 10, 2022)2363120
7-117385790-T-C Male infertility with azoospermia or oligozoospermia due to single gene mutation • not specified Conflicting classifications of pathogenicity (Sep 01, 2023)2391849
7-117385793-T-C not specified Uncertain significance (May 24, 2023)2515331
7-117385796-G-C not specified Uncertain significance (Oct 25, 2023)3130634
7-117420193-G-A not specified Uncertain significance (May 30, 2023)2535609

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CFTRprotein_codingprotein_codingENST00000003084 27250188
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.17e-581.72e-1012505306951257480.00277
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-3.149967531.320.00003809674
Missense in Polyphen180116.881.54011501
Synonymous0.7742562720.9400.00001422819
Loss of Function-0.7348477.01.090.00000404938

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.006040.00603
Ashkenazi Jewish0.01130.0114
East Asian0.0004900.000489
Finnish0.001720.00171
European (Non-Finnish)0.002710.00269
Middle Eastern0.0004900.000489
South Asian0.002420.00242
Other0.001640.00163

dbNSFP

Source: dbNSFP

Function
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). {ECO:0000269|PubMed:10792060, ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:14668433, ECO:0000269|PubMed:15010471, ECO:0000269|PubMed:16645176, ECO:0000269|PubMed:17036051, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26627831, ECO:0000269|PubMed:26823428, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:27714810, ECO:0000269|PubMed:27941075, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:8910473, ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:19923167}.;
Disease
DISEASE: Cystic fibrosis (CF) [MIM:219700]: A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. {ECO:0000269|PubMed:10094564, ECO:0000269|PubMed:11242048, ECO:0000269|PubMed:12167682, ECO:0000269|PubMed:12394343, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:1284466, ECO:0000269|PubMed:1284468, ECO:0000269|PubMed:1284529, ECO:0000269|PubMed:1284530, ECO:0000269|PubMed:1284548, ECO:0000269|PubMed:1379210, ECO:0000269|PubMed:15528182, ECO:0000269|PubMed:15716351, ECO:0000269|PubMed:16822950, ECO:0000269|PubMed:1695717, ECO:0000269|PubMed:1699669, ECO:0000269|PubMed:17098864, ECO:0000269|PubMed:1710600, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:20008117, ECO:0000269|PubMed:20150177, ECO:0000269|PubMed:20691141, ECO:0000269|PubMed:2236053, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:28001373, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:7504969, ECO:0000269|PubMed:7505694, ECO:0000269|PubMed:7513296, ECO:0000269|PubMed:7517264, ECO:0000269|PubMed:7520022, ECO:0000269|PubMed:7522211, ECO:0000269|PubMed:7524909, ECO:0000269|PubMed:7524913, ECO:0000269|PubMed:7525450, ECO:0000269|PubMed:7537150, ECO:0000269|PubMed:7541273, ECO:0000269|PubMed:7541510, ECO:0000269|PubMed:7543567, ECO:0000269|PubMed:7544319, ECO:0000269|PubMed:7581407, ECO:0000269|PubMed:7606851, ECO:0000269|PubMed:7680525, ECO:0000269|PubMed:7683628, ECO:0000269|PubMed:7683954, ECO:0000269|PubMed:8081395, ECO:0000269|PubMed:8406518, ECO:0000269|PubMed:8522333, ECO:0000269|PubMed:8723693, ECO:0000269|PubMed:8723695, ECO:0000269|PubMed:8800923, ECO:0000269|PubMed:8829633, ECO:0000269|PubMed:8910473, ECO:0000269|PubMed:8956039, ECO:0000269|PubMed:9101301, ECO:0000269|PubMed:9222768, ECO:0000269|PubMed:9375855, ECO:0000269|PubMed:9401006, ECO:0000269|PubMed:9443874, ECO:0000269|PubMed:9452048, ECO:0000269|PubMed:9452054, ECO:0000269|PubMed:9452073, ECO:0000269|PubMed:9482579, ECO:0000269|PubMed:9521595, ECO:0000269|PubMed:9554753, ECO:0000269|PubMed:9736778, ECO:0000269|PubMed:9804160, ECO:0000269|PubMed:9921909}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]: Important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens. {ECO:0000269|PubMed:10651488, ECO:0000269|PubMed:17329263, ECO:0000269|PubMed:7529962, ECO:0000269|PubMed:7539342, ECO:0000269|PubMed:9067761, ECO:0000269|PubMed:9736778, ECO:0000269|Ref.113}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Tight junction - Homo sapiens (human);Bile secretion - Homo sapiens (human);Gastric acid secretion - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);ABC transporters - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Vibrio cholerae infection - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human);Disorders of transmembrane transporters;Disease;Signal Transduction;Defective CFTR causes cystic fibrosis;Vesicle-mediated transport;cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Transport of small molecules;RHO GTPases regulate CFTR trafficking;RHO GTPase Effectors;Signaling by Rho GTPases;Clathrin-mediated endocytosis;ABC-family proteins mediated transport;Ub-specific processing proteases;Deubiquitination;Cargo recognition for clathrin-mediated endocytosis;ABC transporter disorders (Consensus)

Recessive Scores

pRec
0.877

Intolerance Scores

loftool
0.0235
rvis_EVS
-0.51
rvis_percentile_EVS
21.73

Haploinsufficiency Scores

pHI
0.766
hipred
Y
hipred_score
0.619
ghis
0.430

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.695

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Cftr
Phenotype
homeostasis/metabolism phenotype; craniofacial phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; digestive/alimentary phenotype; vision/eye phenotype; hematopoietic system phenotype; reproductive system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Zebrafish Information Network

Gene name
cftr
Affected structure
secondary islet
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

Biological process
cholesterol biosynthetic process;vesicle docking involved in exocytosis;bicarbonate transport;protein deubiquitination;cholesterol transport;response to endoplasmic reticulum stress;transepithelial water transport;positive regulation of insulin secretion involved in cellular response to glucose stimulus;positive regulation of exocytosis;sperm capacitation;multicellular organismal water homeostasis;intracellular pH elevation;transmembrane transport;membrane hyperpolarization;membrane organization;cellular response to cAMP;ATP hydrolysis coupled anion transmembrane transport;positive regulation of cyclic nucleotide-gated ion channel activity;chloride transmembrane transport;positive regulation of voltage-gated chloride channel activity;cellular response to forskolin
Cellular component
nucleus;cytoplasm;lysosomal membrane;early endosome;endoplasmic reticulum membrane;cytosol;plasma membrane;integral component of plasma membrane;cell surface;endosome membrane;membrane;integral component of membrane;apical plasma membrane;Golgi-associated vesicle membrane;clathrin-coated vesicle membrane;early endosome membrane;protein-containing complex;chloride channel complex;recycling endosome;recycling endosome membrane
Molecular function
chloride channel activity;intracellularly ATP-gated chloride channel activity;protein binding;ATP binding;bicarbonate transmembrane transporter activity;chloride transmembrane transporter activity;ATPase activity;chloride channel regulator activity;chloride channel inhibitor activity;enzyme binding;PDZ domain binding;ATPase activity, coupled to transmembrane movement of substances;ATPase-coupled anion transmembrane transporter activity;chaperone binding;Sec61 translocon complex binding