SLC12A2

solute carrier family 12 member 2

Ensembl:
ENSG00000064651
UniProt:
P55011
OMIM:
600840
Synonyms:
BSC-2, BSC2, CCC1, NKCC1, PPP1R141

Cilia effects upon perturbation of SLC12A2

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-11.24) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=3.02, ciliated=60.8%) PMID:26595381

Phenotypes

Human ciliopathy phenotype:
hearing loss, autosomal dominant 78

Subcellular localization

basal body, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Protein processing & maturation
  • Cell migration & adhesion
  • Transition zone

Function

SLC12A2 has localized in basal body, transition zone.