Human

Human Kidney Gene DataBase
Name Bardet-Biedl syndrome 1
Symbol BBS1
Aliases BBS2L2; FLJ23590
Gene Product
  • Bardet-Biedl syndrome 1
Category
UniGene Hs.129213 
Reference Sequence
mRNA: NM_024649 Protein: NP_078925
OMIM and SNP
OMIM: 209901 SNP: NCBI SNP
Locus
LocusLink: 582Chromosome: 11Cytoband: 11q13.1 UCSC Genome Map Eesembl Genome Map
SummaryMutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.
Gene Ontology
Expression
EST (255 ESTs, 107 libraries)
Tissue Breadth ? CPM ?
adiposeBreadth of expression: 1 out of 8 libraries express this gene (12.50%)Average CPM:0.48
bloodBreadth of expression: 2 out of 32 libraries express this gene (6.25%)Average CPM:0.40
boneBreadth of expression: 1 out of 24 libraries express this gene (4.17%)Average CPM:0.99
brainBreadth of expression: 19 out of 759 libraries express this gene (2.50%)Average CPM:4.86
cartilageBreadth of expression: 1 out of 16 libraries express this gene (6.25%)Average CPM:1.28
cervixBreadth of expression: 3 out of 11 libraries express this gene (27.27%)Average CPM:3.73
colonBreadth of expression: 3 out of 930 libraries express this gene (0.32%)Average CPM:186.74
earBreadth of expression: 1 out of 2 libraries express this gene (50.00%)Average CPM:0.31
eyeBreadth of expression: 2 out of 24 libraries express this gene (8.33%)Average CPM:1.34
head and neckBreadth of expression: 1 out of 680 libraries express this gene (0.15%)Average CPM:5.52
heartBreadth of expression: 1 out of 26 libraries express this gene (3.85%)Average CPM:0.33
kidneyBreadth of expression: 4 out of 145 libraries express this gene (2.76%)Average CPM:0.20
lungBreadth of expression: 6 out of 334 libraries express this gene (1.80%)Average CPM:0.43
lymph nodeBreadth of expression: 3 out of 22 libraries express this gene (13.64%)Average CPM:0.58
mammary glandBreadth of expression: 2 out of 1038 libraries express this gene (0.19%)Average CPM:1.23
muscleBreadth of expression: 1 out of 83 libraries express this gene (1.20%)Average CPM:1.10
nervousBreadth of expression: 3 out of 21 libraries express this gene (14.29%)Average CPM:0.43
ovaryBreadth of expression: 4 out of 170 libraries express this gene (2.35%)Average CPM:1.62
pancreasBreadth of expression: 1 out of 20 libraries express this gene (5.00%)Average CPM:0.53
parathyroidBreadth of expression: 1 out of 2 libraries express this gene (50.00%)Average CPM:1.32
pineal glandBreadth of expression: 1 out of 2 libraries express this gene (50.00%)Average CPM:0.90
placentaBreadth of expression: 3 out of 358 libraries express this gene (0.84%)Average CPM:22.03
prostateBreadth of expression: 3 out of 309 libraries express this gene (0.97%)Average CPM:2.32
skinBreadth of expression: 3 out of 38 libraries express this gene (7.89%)Average CPM:0.37
spleenBreadth of expression: 1 out of 15 libraries express this gene (6.67%)Average CPM:3.11
stomachBreadth of expression: 1 out of 310 libraries express this gene (0.32%)Average CPM:0.22
testisBreadth of expression: 4 out of 180 libraries express this gene (2.22%)Average CPM:0.82
thymusBreadth of expression: 1 out of 23 libraries express this gene (4.35%)Average CPM:2.49
uncharacterized tissueBreadth of expression: 19 out of 1739 libraries express this gene (1.09%)Average CPM:1.34
uterusBreadth of expression: 4 out of 236 libraries express this gene (1.69%)Average CPM:0.37
vascularBreadth of expression: 2 out of 18 libraries express this gene (11.11%)Average CPM:0.76
whole bodyBreadth of expression: 1 out of 12 libraries express this gene (8.33%)Average CPM:0.48
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