Function
As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly. Essential for functional IFT-A assembly and ciliary entry of GPCRs. Associates with the BBSome complex to mediate ciliary transport.
Gene References into Functions
- Case Reports: that WDR19 mutations can cause dysplastic kidney in addition to nephronophthisis in infants with Sensenbrenner syndrome. PMID: 28621010
- Nephronophthisis 13 (Autosomal Recessive Polycystic Kidney Disease) is associated with mutations in the WDR19 gene.Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population. PMID: 25726036
- WDR19 mutations can cause a broad spectrum of ciliopathies that extends to Jeune and Sensenbrenner syndromes, RP and renal NPHP-like phenotypes PMID: 24504730
- Mutations in WDR19 gene is associated with Caroli disease. PMID: 23559409
- WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. PMID: 23683095
- Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19 PMID: 22019273
- Expressed in normal and neoplastic prostate epithelium and is regulated by androgenic hormones. PMID: 12906858
- Overexpression of WDR19 is associated with prostate cancer PMID: 18316561
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Involvement in disease
Cranioectodermal dysplasia 4 (CED4); Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5); Nephronophthisis 13 (NPHP13); Senior-Loken syndrome 8 (SLSN8)
Subcellular Location
Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium, photoreceptor outer segment.
Tissue Specificity
Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression detected in fibromu
