NPHP4


NPHP4
Nephronophthisis 4
Identifiers
Symbols NPHP4; FLJ46306; KIAA0673; POC10; SLSN4
External IDs OMIM607215 MGI2384210 HomoloGene9024 GeneCards: NPHP4 Gene
RNA expression pattern
PBB GE NPHP4 213471 at tn.png
PBB GE NPHP4 216344 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 261734 260305
Ensembl ENSG00000131697 ENSMUSG00000039577
UniProt O75161 Q80UJ2
RefSeq (mRNA) NM_015102 NM_153424.2
RefSeq (protein) NP_055917 NP_700473.2
Location (UCSC) Chr 1:
5.92 – 6.05 Mb
Chr 4:
151.85 – 151.94 Mb
PubMed search [1] [2]

Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.[1][2][3]

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.[3]

References

  1. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=447598. 
  2. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=385091. 
  3. ^ a b "Entrez Gene: NPHP4 nephronophthisis 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=261734. 

Further reading



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