EFCAB7

EF-hand calcium binding domain 7

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000203965
UniProt:
A8K855
Synonyms:
KIAA1799, RP4-534K7.1

Cilia effects upon perturbation of EFCAB7

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.34) PMID:29459680

Phenotypes

Mouse phenotype:
decreased circulating total protein level

Ciliopathy associations

  • Nonsyndromic Tetralogy of Fallot
  • Postaxial Polydactyly
  • Weyers Acrofacial Dysostosis

References: PMID:37576597, PMID:39894222, PMID:37684519

Subcellular localization

cilia

References: PMID:41410385, PMID:41005307, PMID:24582806

Functional category

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

Function

Positive regulation of Hedgehog pathway. Adaptor to link the EVC-EVC2 complex to IQCE (24582806). We found a reduced proportion of ciliogenesis and shortened primary cilia of Efcab7mut/mut MEFs.