Human

Human Kidney Gene DataBase

Name cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
Symbol CFTR
Aliases CF; MRP7; ABC35; ABCC7; CFTR/MRP; ATP-binding cassette, sub-family C member 7
Gene Product
  • cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
Category
UniGene Hs.411882  Hs.489783 
Reference Sequence
mRNA: NM_000492 Protein: NP_000483
OMIM and SNP
OMIM: 602421 SNP: NCBI SNP
Locus
LocusLink: 1080Chromosome: 7Cytoband: 7q31.2 UCSC Genome Map Eesembl Genome Map
SummaryThe protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. 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 which is involved in multi-drug resistance. This protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene have been observed in patients with the autosomal recessive disorders cystic fibrosis (CF) and congenital bilateral aplasia of the vas deferens (CBAVD). Alternative splice variants have been described, many of which result from mutations in the CFTR gene.
Gene Ontology
Expression
EST (104 ESTs, 45 libraries)
Tissue Breadth ? CPM ?
bloodBreadth of expression: 1 out of  32 libraries express this gene (3.12%)Average CPM:0.83
brainBreadth of expression: 1 out of  759 libraries express this gene (0.13%)Average CPM:0.75
colonBreadth of expression: 17 out of  930 libraries express this gene (1.83%)Average CPM:14.93
germ cellBreadth of expression: 1 out of  6 libraries express this gene (16.67%)Average CPM:0.53
kidneyBreadth of expression: 3 out of  145 libraries express this gene (2.07%)Average CPM:139.35
liverBreadth of expression: 1 out of  65 libraries express this gene (1.54%)Average CPM:4.22
lungBreadth of expression: 2 out of  334 libraries express this gene (0.60%)Average CPM:0.79
muscleBreadth of expression: 1 out of  83 libraries express this gene (1.20%)Average CPM:0.90
ovaryBreadth of expression: 1 out of  170 libraries express this gene (0.59%)Average CPM:24.91
pancreasBreadth of expression: 2 out of  20 libraries express this gene (10.00%)Average CPM:39.09
stomachBreadth of expression: 1 out of  310 libraries express this gene (0.32%)Average CPM:1.08
uncharacterized tissueBreadth of expression: 10 out of  1739 libraries express this gene (0.58%)Average CPM:2.34
uterusBreadth of expression: 3 out of  236 libraries express this gene (1.27%)Average CPM:1.44
EvidenceMutation in System Syndrom with Kidney Involvment

Other key publications related to this gene


© 2004, KGDB, All Rights Reserved.
Department of Urology
University of California, San Francisco