Human

Human Kidney Gene DataBase

Name solute carrier family 12 (sodium/potassium/chloride transporters), member 1
Symbol SLC12A1
Aliases BSC1; NKCC2; Na-K-2Cl cotransporter
Gene Product
  • sodium potassium chloride cotransporter 2
Category
UniGene Hs.123116 
Reference Sequence
mRNA: NM_000338 Protein: NP_000329
OMIM and SNP
OMIM: 600839 SNP: NCBI SNP
Locus
LocusLink: 6557Chromosome: 15Cytoband: 15q15-q21.1 UCSC Genome Map Eesembl Genome Map
SummaryThe sodium-potassium-chloride cotransporter isoform 2 is kidney-specific and is found on the apical membrane of the thick ascending limb of Henle's loop and the macula densa. It accounts for most of the NaCl resorption with the stoichiometry of 1Na:1K:2Cl and is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene.
Gene Ontology
Expression
EST (67 ESTs, 11 libraries)
Tissue Breadth ? CPM ?
brainBreadth of expression: 2 out of  759 libraries express this gene (0.26%)Average CPM:18.79
kidneyBreadth of expression: 4 out of  145 libraries express this gene (2.76%)Average CPM:10.00
muscleBreadth of expression: 1 out of  83 libraries express this gene (1.20%)Average CPM:2.79
uncharacterized tissueBreadth of expression: 4 out of  1739 libraries express this gene (0.23%)Average CPM:1.55
SAGE (3781431 tags, 69 libraries)
Tissue Breadth ? CPM ?
bloodBreadth of expression: 1 out of  1 libraries express this gene (100.00%)Average CPM:20.61
brainBreadth of expression: 21 out of  30 libraries express this gene (70.00%)Average CPM:58.08
cerebellumBreadth of expression: 1 out of  1 libraries express this gene (100.00%)Average CPM:39.00
colonBreadth of expression: 1 out of  8 libraries express this gene (12.50%)Average CPM:16.55
eyeBreadth of expression: 4 out of  6 libraries express this gene (66.67%)Average CPM:65.95
heartBreadth of expression: 1 out of  1 libraries express this gene (100.00%)Average CPM:11.85
kidneyBreadth of expression: 1 out of  3 libraries express this gene (33.33%)Average CPM:430.04
lungBreadth of expression: 1 out of  1 libraries express this gene (100.00%)Average CPM:33.65
mammary glandBreadth of expression: 5 out of  20 libraries express this gene (25.00%)Average CPM:27.41
nervousBreadth of expression: 1 out of  1 libraries express this gene (100.00%)Average CPM:54.13
ovaryBreadth of expression: 3 out of  10 libraries express this gene (30.00%)Average CPM:32.70
prostateBreadth of expression: 1 out of  14 libraries express this gene (7.14%)Average CPM:33.58
skinBreadth of expression: 2 out of  7 libraries express this gene (28.57%)Average CPM:101.00
stomachBreadth of expression: 1 out of  4 libraries express this gene (25.00%)Average CPM:70.99
uncharacterized tissueBreadth of expression: 9 out of  20 libraries express this gene (45.00%)Average CPM:21.22
vascularBreadth of expression: 2 out of  3 libraries express this gene (66.67%)Average CPM:35.77
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