ANKS6
ankyrin repeat and sterile alpha motif domain containing 6
- Ensembl:
- ENSG00000165138
- UniProt:
- Q68DC2
- OMIM:
- 615370
- Synonyms:
- ANKRD14, FLJ36928, NPHP16, SAMD6
Cilia effects upon perturbation of ANKS6
- Loss-of-function effect:
- Shorter cilia
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=761, lfc=-0.52) PMID:30270045
Phenotypes
- Mouse phenotype:
- preweaning lethality, complete penetrance
- Human ciliopathy phenotype:
- nephronophthisis 16
Ciliopathy associations
- Nephronophthisis
- Polycystic Kidney Disease
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
Function
Ciliopathy gene NPHP16. Found in Inv compartment of cilia, where it undergoes phosphorylation (29395339).