KCNJ10

potassium inwardly rectifying channel subfamily J member 10

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000177807
UniProt:
P78508
OMIM:
602208
Synonyms:
KIR1.2, KIR4.1

Cilia effects upon perturbation of KCNJ10

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.80) 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:
tremors, increased startle reflex, decreased mean platelet volume, preweaning lethality, complete penetrance, decreased basophil cell number, decreased exploration in new environment
Human ciliopathy phenotype:
autosomal recessive nonsyndromic hearing loss 4; hearing loss, autosomal recessive

Ciliopathy associations

  • Spinocerebellar Ataxia

References: PMID:37905444

Subcellular localization

cilia

References: PMID:26546361

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Ion channel gene that exhibits a significant negative effect on ciliogenesis but not on cell number (26546361). Knockdown of Kcnj10 resulted in a lower percentage of ciliated cells. KCNJ10 localizes to the base of primary cilia. KCNJ10–GFP localized to primary cilia and rescued ciliogenesis after knockdown. Ion channel function of KCNJ10 is independent of its effect on ciliogenesis. (26546361)