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

Subcellular localization

cilia

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), reti l dystrophies and Caroli desease (23559409). Mutations can also cause disorganization of in sperm flagella and nonsyndromic asthenoteratospermia (32323121)