MEGF8

multiple EGF like domains 8

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000105429
UniProt:
Q7Z7M0
OMIM:
604267
Synonyms:
C19ORF49, EGFL4, FLJ22365, SBP1

Ciliogenesis screen results (2 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=3, lfc=2.17) PMID:30270045

Ciliopathy associations

  • Carpenter Syndrome

References: PMID:38760421, PMID:35944997, PMID:29884872, PMID:23063620

Subcellular localization

nucleus

Functional category

  • Ciliary assembly/disassembly
  • Neurogenesis & migration
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Axon guidance & growth

Function

Mutations in the MEGF8 gene cause Carpenter Syndrome (PMID: 23063620).