CHD4

chromodomain helicase DNA binding protein 4

Ensembl:
ENSG00000111642
UniProt:
Q14839
OMIM:
603277
Synonyms:
MI-2B, MI2-BETA

Cilia effects upon perturbation of CHD4

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-12.53) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=1.37) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
embryonic lethality prior to organogenesis, preweaning lethality, complete penetrance

Subcellular localization

centrosome, cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • Viral interactions
  • Transcription regulation

Function

In vitro pooled CRISPR interference screen to identify CHD genes disrupting NPC biology and identified 45 CHD genes. A cluster of ASD and CHD genes are enriched for ciliary biology, and perturbing any one of seven such genes (CEP290, CHD4, KMT2E, NSD1, OFD1, RFX3 and TAOK1) impairs primary cilia formation in vitro(PMID: 40552535).