TSC2

Cilia effects upon perturbation of TSC2

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.07) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.43) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

• Autosomal Dominant Polycystic Kidney Disease
• Autosomal Recessive Polycystic Kidney Disease

References: PMID:11336705, PMID:8541874, PMID:7894481, PMID:19692352

Subcellular localization

basal body, cytosol, flagella, nucleus

References: PMID:19008302, PMID:18845692, PMID:29396625, PMID:19321600, PMID:20169078

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Form a complex with TSC1 that negatively regulates the TOR pathway and, in turn, cell growth, proliferation and survival (19008302).Mutations have been associated with Tuberous sclerosis complex and polycystic kidney disease. Loss of Tsc1 or Tsc2 enhances ciliary formation and elongation (18845692). Regulates Smoothened (SMO)- dependent HH signaling in cilia (29396625). Role in maintaining cell polarity. Associates with the GSK3/axin complex to inhibit canonical Wnt-signalling (19321600). Required for the normal trafficking of PC-1 from the Golgi to the membrane (20169078).