Full name: WD repeat domain 19

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ATD5; CED4; CFAP66; DYF-2; FAP66; IFT144; NPHP13; ORF26; Oseg6; PWDMP; SPGF72; SRTD5

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

Gene size: 103282bp

Exon count: 37