BAIT

INVS

INV, NPH2, NPHP2, RP11-208F1.1
inversin
GO Process (1)
GO Function (1)
GO Component (0)

Gene Ontology Molecular Function

Homo sapiens
PREY

CALM2

CAMII, PHKD, PHKD2
calmodulin 2 (phosphorylase kinase, delta)
GO Process (43)
GO Function (11)
GO Component (13)

Gene Ontology Biological Process

Homo sapiens

Two-hybrid

Bait protein expressed as a DNA binding domain (DBD) fusion and prey expressed as a transcriptional activation domain (TAD) fusion and interaction measured by reporter gene activation.

Publication

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children. Identification of four genes mutated in NPHP subtypes 1-4 (refs. 4-9) has linked the pathogenesis of NPHP to ciliary functions. Ten percent of affected individuals have retinitis pigmentosa, constituting the renal-retinal Senior-Loken syndrome (SLSN). Here we identify, by positional cloning, mutations in an evolutionarily conserved gene, ... [more]

Nat. Genet. Mar. 01, 2005; 37(3);282-8 [Pubmed: 15723066]

Throughput

  • Low Throughput

Curated By

  • BioGRID