KCNC3

potassium voltage-gated channel subfamily C member 3

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000131398
UniProt:: Q14003
OMIM:: 176264
Synonyms:: KV3.3, SCA13

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

References: PMID:33688626

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 neuronal compartments, based on strong homology and functional parallels with C. elegans EGL-36, which localizes to the periciliary region of ciliated sensory neurons (33688626).

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