EFCAB6

EF-hand calcium binding domain 6

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000186976
UniProt:
Q5THR3
OMIM:
619664
Synonyms:
DJ185D5.1, DJBP, FLJ23588, HSCBCIP1, KIAA1672

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.45) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
decreased grip strength

Subcellular localization

cilia, nucleus

References: PMID:32616903

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Cell migration & adhesion

Function

Positive staining for motile ciliated cells was observed in the mouse brain, however, ISH staining of ependymal cells lining the choroid plexus in the chickens was only observed in the cases of EFCAB6, FAM183A and MYCBPAP (32616903).