Human

Human Kidney Gene DataBase

Name polycystic kidney disease 2 (autosomal dominant)
Symbol PKD2
Aliases PKD4; APKD2; polycystwin
Gene Product
  • polycystin 2
Category
UniGene Hs.458291 
Reference Sequence
mRNA: NM_000297 Protein: NP_000288
OMIM and SNP
OMIM: 173910 SNP: NCBI SNP
Locus
LocusLink: 5311Chromosome: 4Cytoband: 4q21-q23 UCSC Genome Map Eesembl Genome Map
SummaryThis gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. The encoded protein may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homoeostasis and other signal transduction pathways. This protein interacts with polycystin 1 to produce cation-permeable currents. Mutations in this gene have been associated with autosomal dominant polycystic kidney disease.
Gene Ontology
Expression
EST (144 ESTs, 88 libraries)
Tissue Breadth ? CPM ?
boneBreadth of expression: 4 out of  24 libraries express this gene (16.67%)Average CPM:1.54
brainBreadth of expression: 8 out of  759 libraries express this gene (1.05%)Average CPM:2.71
cartilageBreadth of expression: 3 out of  16 libraries express this gene (18.75%)Average CPM:1.32
earBreadth of expression: 1 out of  2 libraries express this gene (50.00%)Average CPM:1.11
eyeBreadth of expression: 3 out of  24 libraries express this gene (12.50%)Average CPM:2.44
germ cellBreadth of expression: 1 out of  6 libraries express this gene (16.67%)Average CPM:0.19
head and neckBreadth of expression: 1 out of  680 libraries express this gene (0.15%)Average CPM:18.97
heartBreadth of expression: 2 out of  26 libraries express this gene (7.69%)Average CPM:0.58
kidneyBreadth of expression: 5 out of  145 libraries express this gene (3.45%)Average CPM:0.36
liverBreadth of expression: 4 out of  65 libraries express this gene (6.15%)Average CPM:9.49
lungBreadth of expression: 9 out of  334 libraries express this gene (2.69%)Average CPM:0.48
lymph nodeBreadth of expression: 2 out of  22 libraries express this gene (9.09%)Average CPM:0.80
mammary glandBreadth of expression: 6 out of  1038 libraries express this gene (0.58%)Average CPM:0.95
muscleBreadth of expression: 1 out of  83 libraries express this gene (1.20%)Average CPM:1.30
ovaryBreadth of expression: 1 out of  170 libraries express this gene (0.59%)Average CPM:1.63
pancreasBreadth of expression: 3 out of  20 libraries express this gene (15.00%)Average CPM:1.40
parathyroidBreadth of expression: 1 out of  2 libraries express this gene (50.00%)Average CPM:0.33
placentaBreadth of expression: 3 out of  358 libraries express this gene (0.84%)Average CPM:0.92
prostateBreadth of expression: 3 out of  309 libraries express this gene (0.97%)Average CPM:0.89
skinBreadth of expression: 2 out of  38 libraries express this gene (5.26%)Average CPM:0.33
stomachBreadth of expression: 4 out of  310 libraries express this gene (1.29%)Average CPM:1.17
testisBreadth of expression: 2 out of  180 libraries express this gene (1.11%)Average CPM:4.77
uncharacterized tissueBreadth of expression: 8 out of  1739 libraries express this gene (0.46%)Average CPM:0.99
uterusBreadth of expression: 5 out of  236 libraries express this gene (2.12%)Average CPM:0.52
vascularBreadth of expression: 1 out of  18 libraries express this gene (5.56%)Average CPM:1.38
whole bodyBreadth of expression: 1 out of  12 libraries express this gene (8.33%)Average CPM:0.56
SAGE (3076396 tags, 54 libraries)
Tissue Breadth ? CPM ?
brainBreadth of expression: 7 out of  30 libraries express this gene (23.33%)Average CPM:21.40
colonBreadth of expression: 3 out of  8 libraries express this gene (37.50%)Average CPM:30.38
eyeBreadth of expression: 3 out of  6 libraries express this gene (50.00%)Average CPM:28.31
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:31.47
muscleBreadth of expression: 1 out of  2 libraries express this gene (50.00%)Average CPM:18.57
ovaryBreadth of expression: 1 out of  10 libraries express this gene (10.00%)Average CPM:20.58
pancreasBreadth of expression: 3 out of  8 libraries express this gene (37.50%)Average CPM:53.08
prostateBreadth of expression: 4 out of  14 libraries express this gene (28.57%)Average CPM:22.59
stomachBreadth of expression: 1 out of  4 libraries express this gene (25.00%)Average CPM:28.40
uncharacterized tissueBreadth of expression: 6 out of  20 libraries express this gene (30.00%)Average CPM:44.92
vascularBreadth of expression: 2 out of  3 libraries express this gene (66.67%)Average CPM:21.75
EvidenceDeletion in Kidney Cystic Disease Mutation in Kidney Cystic Disease

Other key publications related to this gene


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