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. Is expressed in several structures, including Kupffer's vesicle; digestive system; forerunner cell group; head; and pleuroperitoneal region. 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); congenital bilateral absence of vas deferens (multiple); and lung disease (multiple). Orthologous to human CFTR (CF transmembrane conductance regulator).
Genome Resources
Note
None
Expression
All Expression Data
9 figures from 8 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
27 figures from 9 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
Conserved_site IPR017871 ABC transporter, conserved site
Domain IPR003439 ABC transporter-like
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, conserved site ABC transporter-like 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:A0A0R4ID63 1485
UniProtKB:Q1LX78 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
Ensembl Gene Tree
Citations