IFT52

Cilia effects upon perturbation of IFT52

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

No effect

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.82) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.06) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=157, lfc=-4.27) PMID:30270045

Phenotypes

Mouse phenotype:

embryonic lethality prior to tooth bud stage, preweaning lethality, complete penetrance, edema, hemorrhage, pale yolk sac, abnormal forebrain development, abnormal heart looping, embryonic growth retardation, abnormal embryo size, abnormal visceral yolk sac morphology

Mouse ciliopathy phenotype:

abnormal midbrain development, abnormal embryo turning, abnormal heart morphology

Human ciliopathy phenotype:

short rib-polydactyly syndrome; short-rib thoracic dysplasia 16 with or without polydactyly

Ciliopathy associations

• Cranioectodermal Dysplasia (Sensenbrenner)
• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy
• Leber Congenital Amaurosis

Subcellular localization

basal body, centrosome, cilia

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone
• Cilia length regulation

Function

Component of IFT complex B. Essential for anterograde complex integrity, biosynthesis and mainte nce of cilia. Regulation of ciliogenesis and cilia length, it also plays a role as a docking site for complex B proteins attaching to the transition fibres of the basal bodies and is required for localization of the IFT-B complex proteins (27466190). Recruits and interacts with IFT46 to assembly a subcomplex which is a prerequisite for the assembly of IFT-B1, it is also required to localise IFT46 to the basal body (28302912).

Model organism evidence