NPHP4

NPHP4
Identifiers
Aliases	NPHP4, POC10, SLSN4, nephronophthisis 4
External IDs	MGI: 2384210 HomoloGene: 9024 GeneCards: NPHP4
Genetically Related Diseases
Nephronophthisis[1]
Gene ontology Molecular function • structural molecule activity • protein binding Cellular component • photoreceptor connecting cilium • ciliary transition zone • cytoplasm • ribbon synapse • microtubule organizing center • cell projection • cytosol • cell junction • cell-cell junction • membrane • ciliary base • centrosome • bicellular tight junction • nonmotile primary cilium • cilium • cytoskeleton Biological process • retina development in camera-type eye • signal transduction • photoreceptor cell outer segment organization • visual behavior • actin cytoskeleton organization • photoreceptor cell maintenance • single organismal cell-cell adhesion • hippo signaling • flagellated sperm motility • positive regulation of bicellular tight junction assembly • negative regulation of canonical Wnt signaling pathway Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	261734	260305
Ensembl	ENSG00000131697	ENSMUSG00000039577
UniProt	O75161	P59240
RefSeq (mRNA)	NM_001291593 NM_001291594 NM_015102	NM_153424
RefSeq (protein)	NP_001278522.1 NP_001278523.1 NP_055917.1	NP_700473.2
Location (UCSC)	Chr 1: 5.86 – 5.99 Mb	Chr 4: 152.48 – 152.56 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.^[4][5][6]

This 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.^[6]

References

1. "Diseases that are genetically associated with NPHP4 view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F (Apr 2002). "Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36". Am J Hum Genet. 70 (5): 1240–6. doi:10.1086/340317. PMC 447598. PMID 11920287.
5. Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F (Oct 2002). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution". Am J Hum Genet. 71 (5): 1161–7. doi:10.1086/344395. PMC 385091. PMID 12205563.
6. "Entrez Gene: NPHP4 nephronophthisis 4".

Further reading

• Ishikawa K, Nagase T, Suyama M, et al. (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.". DNA Res. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
• Donaldson JC, Dise RS, Ritchie MD, Hanks SK (2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity.". J. Biol. Chem. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.
• Mollet G, Salomon R, Gribouval O, et al. (2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.". Nat. Genet. 32 (2): 300–5. doi:10.1038/ng996. PMID 12244321.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Mollet G, Silbermann F, Delous M, et al. (2005). "Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.". Hum. Mol. Genet. 14 (5): 645–56. doi:10.1093/hmg/ddi061. PMID 15661758.
• Hoefele J, Sudbrak R, Reinhardt R, et al. (2006). "Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.". Hum. Mutat. 25 (4): 411. doi:10.1002/humu.9326. PMID 15776426.
• Roepman R, Letteboer SJ, Arts HH, et al. (2006). "Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.". Proc. Natl. Acad. Sci. U.S.A. 102 (51): 18520–5. doi:10.1073/pnas.0505774102. PMC 1317916. PMID 16339905.
• Szafranski K, Schindler S, Taudien S, et al. (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.". Genome Biology. 8 (8): R154. doi:10.1186/gb-2007-8-8-r154. PMC 2374985. PMID 17672918.
• Mistry K, Ireland JH, Ng RC, et al. (2007). "Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis.". Am. J. Kidney Dis. 50 (5): 855–64. doi:10.1053/j.ajkd.2007.08.009. PMID 17954299.