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NPHP4
Identifiers
Aliases	NPHP4, POC10, SLSN4, nephronophthisis 4, nephrocystin 4
External IDs	OMIM: 607215; MGI: 2384210; HomoloGene: 9024; GeneCards: NPHP4; OMA:NPHP4 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p36.31 Start 5,862,811 bp End 5,992,473 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 E2 Start 152,561,163 bp End 152,647,640 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube anterior pituitary right lobe of thyroid gland left lobe of thyroid gland right testis left testis skin of abdomen right frontal lobe skin of leg stromal cell of endometrium Top expressed in lumbar subsegment of spinal cord primary visual cortex superior frontal gyrus neural layer of retina secondary oocyte dentate gyrus of hippocampal formation granule cell spermatocyte olfactory tubercle spermatid prefrontal cortex More reference expression data BioGPS More reference expression data
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 ciliary base centrosome bicellular tight junction cilium cytoskeleton nucleus ciliary basal body non-motile cilium Biological process retina development in camera-type eye signal transduction photoreceptor cell outer segment organization visual behavior actin cytoskeleton organization photoreceptor cell maintenance hippo signaling flagellated sperm motility positive regulation of bicellular tight junction assembly negative regulation of canonical Wnt signaling pathway ciliary basal body-plasma membrane docking cell-cell adhesion protein localization to ciliary transition zone Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 261734 260305 Ensembl ENSG00000131697 ENSMUSG00000039577 UniProt O75161 P59240 RefSeq (mRNA) NM_001291593 NM_001291594 NM_015102 NM_153424 NM_001355738 NM_001355739 RefSeq (protein) NP_001278522 NP_001278523 NP_055917 NP_700473 NP_001342667 NP_001342668 Location (UCSC) Chr 1: 5.86 – 5.99 Mb Chr 4: 152.56 – 152.65 Mb PubMed search
Wikidata
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Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000131697 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000039577 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. ^ "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. S2CID 24216974.
• 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. Bibcode:2002PNAS...9916899M. 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" (PDF). Hum. Mutat. 25 (4): 411. doi:10.1002/humu.9326. hdl:2027.42/39127. PMID 15776426. S2CID 20251528.
• 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.

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