IFT20

intraflagellar transport 20

Ensembl:
ENSG00000109083
UniProt:
Q8IY31
OMIM:
614394

Cilia effects upon perturbation of IFT20

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
Can cause accumulation of ciliary proteins at Golgi

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.76) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=581, lfc=-1.20) PMID:30270045

Phenotypes

Mouse phenotype:
increased circulating chloride level, increased circulating phosphate level, preweaning lethality, complete penetrance, abnormal glucose homeostasis

Subcellular localization

basal body, centrosome, cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Transition zone

Function

Component of IFT complex B that functions as a link between IFT complex and kinesin II, binding to both IFT57 and KIF3B, making it essential for anterograde transport in cilia and flagella (12821668). Required for ciliary assembly and localisation of polycystin-2 and opsin to cilia (16775004). Essential for spermiogenesis and male fertility (27682589).

Model organism evidence

Mus musculus (1 reference)

Specifically, TULP2 interacts with several intraflagellar transport (IFT) components, and quantitative analyses revealed significant dysregulation of some IFT-related molecules including IFT20, IFT80, IFT70A, BBS7, DYNLT2B, and HDAC6 in Tulp2-/- mice.

PMIDs: 40613306