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