WDR19, Official Symbol WDR19provided by HGNC Official Full Name WD repeat domain 19provided by HGNC Primary source HGNC:HGNC:18340 See related Ensembl:ENSG00000157796 MIM:608151; AllianceGenome:HGNC:18340 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 ATD5; CED4; DYF-2; FAP66; ORF26; Oseg6; PWDMP; SRTD5; CFAP66; IFT144; NPHP13; SPGF72 Summary The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Broad expression in thyroid (RPKM 9.7), testis (RPKM 8.9) and 25 other tissues See more Orthologs mouse all