KCNQ2

potassium voltage-gated channel subfamily Q member 2

Ensembl:
ENSG00000075043
UniProt:
O43526
OMIM:
602235
Synonyms:
BFNC, EBN, EBN1, ENB1, HNSPC

Cilia effects upon perturbation of KCNQ2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.41) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
Benign familial neonatal seizures

Ciliopathy associations

  • Juvenile Myoclonic Epilepsy

Subcellular localization

endoplasmic reticulum

Functional category

  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in KCNQ2 cause Juvenile Myoclonic Epilepsy (PMID: 39616287).

Model organism evidence

Drosophila (1 reference)

Individualization in Drosophila begins as a membrane-cytoskeletal complex known as the individualization complex (IC) assembles around the sperm heads and proceeds down the flagella, removing cytoplasm from between the sperm tails and shrink-wrapping each spermatid into its own plasma membrane a

PMIDs: 22885996