NPHP4, Official Symbol NPHP4provided by HGNC Official Full Name nephrocystin 4provided by HGNC Primary source HGNC:HGNC:19104 See related Ensembl:ENSG00000131697 MIM:607215; AllianceGenome:HGNC:19104 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as POC10; SLSN4 Summary This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] Expression Broad expression in testis (RPKM 3.4), thyroid (RPKM 2.6) and 25 other tissues See more Orthologs mouse all