KCND3

potassium voltage-gated channel subfamily D member 3

Ensembl:
ENSG00000171385
UniProt:
Q9UK17
OMIM:
605411
Synonyms:
KSHIVB, KV4.3, SCA19, SCA22

Cilia effects upon perturbation of KCND3

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.95) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Joubert Candidate / Ciliogenesis Defect (robust z=-3.05, ciliated=14.3%) PMID:26595381

Phenotypes

Mouse phenotype:
hyperactivity, decreased blood urea nitrogen level, increased bone mineral content, increased vertical activity, decreased thigmotaxis, decreased locomotor activity, abnormal startle reflex, decreased exploration in new environment
Human ciliopathy phenotype:
spinocerebellar ataxia type 19/22

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Muscle contraction & physiology

Function

Mutations in the KCND3 gene cause Spinocerebellar Ataxia (PMID: 23280838).