NPHP4

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NPHP4
Identifiers
Aliases NPHP4, POC10, SLSN4, nephronophthisis 4
External IDs MGI: 2384210 HomoloGene: 9024 GeneCards: NPHP4
Genetically Related Diseases
nephronophthisis[1]
RNA expression pattern
PBB GE NPHP4 216344 at fs.png

PBB GE NPHP4 213471 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001291593
NM_001291594
NM_015102

NM_153424

RefSeq (protein)

NP_001278522
NP_001278523
NP_055917

NP_700473.2
NP_700473

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[edit]

  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 447598Freely accessible. 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 385091Freely accessible. PMID 12205563. 
  6. ^ a b "Entrez Gene: NPHP4 nephronophthisis 4". 

Further reading[edit]