Gene

cftr

ID
ZDB-GENE-050517-20
Name
CF transmembrane conductance regulator
Symbol
cftr Nomenclature History
Previous Names
  • abcc7 (1)
  • si:dkey-270i2.2 (1)
Type
protein_coding_gene
Location
Chr: 18 Mapping Details/Browsers
Description
Exhibits ATP binding activity and ATPase activity. Involved in several processes, including Kupffer's vesicle development; germ cell migration; and regulation of neutrophil chemotaxis. Localizes to apical plasma membrane and integral component of membrane. Used to study cystic fibrosis and diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); cystic fibrosis; and lung disease (multiple). Is expressed in several structures, including Kupffer's vesicle; digestive system; forerunner cell group; head; and pleuroperitoneal region. Orthologous to human CFTR (CF transmembrane conductance regulator).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
10 figures from 9 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
31 figures from 11 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cftr Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive congenital bilateral absence of vas deferens Alliance Congenital bilateral absence of vas deferens 277180
bronchiectasis Alliance {Bronchiectasis with or without elevated sweat chloride 1, modifier of} 211400
bronchiectasis 1 Alliance {Bronchiectasis with or without elevated sweat chloride 1, modifier of} 211400
cystic fibrosis Alliance Cystic fibrosis 219700
pancreatitis Alliance {Pancreatitis, hereditary} 167800
Sweat chloride elevation without CF
{Hypertrypsinemia, neonatal}
Associated With cftr Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR003593 AAA+ ATPase domain
Domain IPR011527 ABC transporter type 1, transmembrane domain
Domain IPR025837 CFTR regulator domain
Family IPR009147 Cystic fibrosis transmembrane conductance regulator
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036640 ABC transporter type 1, transmembrane domain superfamily
Domain Details Per Protein
Protein Length AAA+ ATPase domain ABC transporter type 1, transmembrane domain ABC transporter type 1, transmembrane domain superfamily CFTR regulator domain Cystic fibrosis transmembrane conductance regulator P-loop containing nucleoside triphosphate hydrolase
UniProtKB:Q1LX78 1485
UniProtKB:A0A0R4ID63 1485
UniProtKB:A0M8W1 1481
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-cftr monoclonal IgM Mouse
  • WB
Abcam plc
3
Ab1-cftr polyclonal Rabbit
  • IHC
  • WB
1
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations