Human

Human Kidney Gene DataBase

Name Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Symbol BSND
Aliases BART; barttin
Gene Product
  • barttin
Category
UniGene Hs.151291 
Reference Sequence
mRNA: NM_057176 Protein: NP_476517
OMIM and SNP
OMIM: 606412 SNP: NCBI SNP
Locus
LocusLink: 7809Chromosome: 1Cytoband: 1p32.1 UCSC Genome Map Eesembl Genome Map
SummaryThis gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness.
Expression
EST (5 ESTs, 3 libraries)
Tissue Breadth ? CPM ?
kidneyBreadth of expression: 3 out of  145 libraries express this gene (2.07%)Average CPM:46.05
SAGE (785236 tags, 15 libraries)
Tissue Breadth ? CPM ?
brainBreadth of expression: 4 out of  30 libraries express this gene (13.33%)Average CPM:19.81
colonBreadth of expression: 1 out of  8 libraries express this gene (12.50%)Average CPM:16.22
mammary glandBreadth of expression: 3 out of  20 libraries express this gene (15.00%)Average CPM:21.16
ovaryBreadth of expression: 1 out of  10 libraries express this gene (10.00%)Average CPM:20.58
pancreasBreadth of expression: 2 out of  8 libraries express this gene (25.00%)Average CPM:27.16
skinBreadth of expression: 1 out of  7 libraries express this gene (14.29%)Average CPM:44.51
stomachBreadth of expression: 1 out of  4 libraries express this gene (25.00%)Average CPM:30.29
uncharacterized tissueBreadth of expression: 1 out of  20 libraries express this gene (5.00%)Average CPM:16.65
vascularBreadth of expression: 1 out of  3 libraries express this gene (33.33%)Average CPM:19.02
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