KCNC3
potassium voltage-gated channel subfamily C member 3
- Ensembl:
- ENSG00000131398
- UniProt:
- Q14003
- OMIM:
- 176264
- Synonyms:
- KV3.3, SCA13
Cilia effects upon perturbation of KCNC3
Ciliogenesis screen results (4 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.81) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- hyperactivity, increased vertical activity, increased grip strength, decreased bone mineral content, decreased bone mineral density, decreased grip strength, abnormal sleep behavior
- Human ciliopathy phenotype:
- spinocerebellar ataxia type 13
Subcellular localization
basal body
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Signaling (Hedgehog, GPCRs, ion channels)
Function
KCNC family members (KCNC1, KCNC2, KCNC3, KCNC4) may be involved in ciliated neuro l compartments, based on strong homology and functio l parallels with C. elegans EGL-36, which localizes to the periciliary region of ciliated sensory neurons (33688626).