WDR19

Entrez 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].
UniProt Summary: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport (PubMed:20889716). Involved in cilia function and/or assembly (By similarity). Associates with the BBSome complex to mediate ciliary transport (By similarity). {ECO:0000250|UniProtKB:Q3UGF1, ECO:0000269|PubMed:20889716}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

myotome development
ciliary receptor clustering involved in smoothened signaling pathway
intraciliary transport particle A
smoothened signaling pathway involved in dorsal/ventral neural tube patterning
protein localization to ciliary membrane
intraciliary retrograde transport
dorsal/ventral neural tube patterning
non-motile cilium
neural tube patterning
embryonic camera-type eye development
photoreceptor connecting cilium
intraciliary transport involved in cilium assembly
ciliary tip
embryonic cranial skeleton morphogenesis
protein localization to cilium
receptor clustering
intraciliary transport
photoreceptor outer segment
cranial skeletal system development
microtubule-based protein transport
protein transport along microtubule
smoothened signaling pathway
dorsal/ventral pattern formation
somite development
localization within membrane
embryonic skeletal system morphogenesis
motile cilium
ear morphogenesis
embryonic appendage morphogenesis
embryonic limb morphogenesis
embryonic skeletal system development
digestive system development
appendage morphogenesis
limb morphogenesis
transport along microtubule
neural tube development
cytoskeleton-dependent intracellular transport
limb development
appendage development
microtubule-based transport