WDR19

Cilia effects upon perturbation of WDR19

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Not Reported, Unknown

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.92) PMID:29459680

Phenotypes

Human ciliopathy phenotype:

Senior-Loken syndrome; nephronophthisis; Nephronophthisis; Senior-Loken syndrome 8

Ciliopathy associations

• Cranioectodermal Dysplasia (Sensenbrenner)
• Nephronophthisis
• Senior-Løken Syndrome
• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy

References: PMID:22019273, PMID:23683095, PMID:22019273, PMID:22019273, PMID:23559409, PMID:33002628, PMID:19430947, PMID:23559409, PMID:24027799, PMID:35281231, PMID:33517396, PMID:32804427, PMID:26792575, PMID:29134781, PMID:40647705, PMID:33606107, PMID:32007091, PMID:25044745, PMID:29458881, PMID:38062428, PMID:35362211, PMID:22791528, PMID:41141533

Subcellular localization

cilia, basal body

References: PMID:41005307, PMID:16957054, PMID:24504730, PMID:22019273, PMID:29134781, PMID:23339108, PMID:32323121

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Reproduction & sperm
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Transition zone

Function

Also known as IFT144. Retrograde IFT-A protein. Ortholog of C.elegans DYF-2 (16957054). Mutations are associated with a broad spectrum of ciliopathies (24504730) including nephronophthisis, Jeune syndrome (22019273), Sensenbrenner syndrome (29134781), asphyxiating thoracic dysplasia (23339108), retinal dystrophies and Caroli desease (23559409). Mutations can also cause disorganization of in sperm flagella and nonsyndromic asthenoteratospermia (32323121)