Human

Human Kidney Gene DataBase
Name nephronophthisis 4
Symbol NPHP4
Aliases SLSN4; KIAA0673; nephroretinin; nephrocystin 4; Senior-Loken syndrome 4
Gene Product
  • nephroretinin
Category
UniGene Hs.434931 
Reference Sequence
mRNA: NM_015102 Protein: NP_055917
OMIM and SNP
OMIM: 607215 SNP: NCBI SNP
Locus
LocusLink: 261734Chromosome: 1Cytoband: 1p36.22 UCSC Genome Map Eesembl Genome Map
SummaryThis gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined.
Gene Ontology
Expression
EST (92 ESTs, 51 libraries)
Tissue Breadth ? CPM ?
boneBreadth of expression: 3 out of 24 libraries express this gene (12.50%)Average CPM:2.15
brainBreadth of expression: 8 out of 759 libraries express this gene (1.05%)Average CPM:35.41
cartilageBreadth of expression: 1 out of 16 libraries express this gene (6.25%)Average CPM:2.55
cervixBreadth of expression: 1 out of 11 libraries express this gene (9.09%)Average CPM:0.55
colonBreadth of expression: 1 out of 930 libraries express this gene (0.11%)Average CPM:12.70
eyeBreadth of expression: 2 out of 24 libraries express this gene (8.33%)Average CPM:1.24
germ cellBreadth of expression: 1 out of 6 libraries express this gene (16.67%)Average CPM:0.30
head and neckBreadth of expression: 1 out of 680 libraries express this gene (0.15%)Average CPM:13.34
heartBreadth of expression: 1 out of 26 libraries express this gene (3.85%)Average CPM:28.76
kidneyBreadth of expression: 2 out of 145 libraries express this gene (1.38%)Average CPM:2.90
liverBreadth of expression: 1 out of 65 libraries express this gene (1.54%)Average CPM:9.54
lungBreadth of expression: 2 out of 334 libraries express this gene (0.60%)Average CPM:0.59
mammary glandBreadth of expression: 2 out of 1038 libraries express this gene (0.19%)Average CPM:0.61
muscleBreadth of expression: 2 out of 83 libraries express this gene (2.41%)Average CPM:3.05
nervousBreadth of expression: 1 out of 21 libraries express this gene (4.76%)Average CPM:2.18
pancreasBreadth of expression: 1 out of 20 libraries express this gene (5.00%)Average CPM:0.50
prostateBreadth of expression: 1 out of 309 libraries express this gene (0.32%)Average CPM:30.19
skinBreadth of expression: 1 out of 38 libraries express this gene (2.63%)Average CPM:0.57
spleenBreadth of expression: 1 out of 15 libraries express this gene (6.67%)Average CPM:1.37
stomachBreadth of expression: 2 out of 310 libraries express this gene (0.65%)Average CPM:50.94
testisBreadth of expression: 5 out of 180 libraries express this gene (2.78%)Average CPM:1.71
thymusBreadth of expression: 1 out of 23 libraries express this gene (4.35%)Average CPM:3.44
uncharacterized tissueBreadth of expression: 5 out of 1739 libraries express this gene (0.29%)Average CPM:0.18
uterusBreadth of expression: 5 out of 236 libraries express this gene (2.12%)Average CPM:2.08
EvidenceMutation in Nephronophthisis

Other key publications related to this gene

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