CHD8

chromodomain helicase DNA binding protein 8

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000100888
UniProt:
Q9HCK8
OMIM:
610528
Synonyms:
DUPLIN, HELSNF1, KIAA1564

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=542, lfc=1.12) PMID:30270045

Phenotypes

Mouse phenotype:
abnormal spleen morphology, preweaning lethality, complete penetrance, hyperplasia, enlarged lymph nodes, decreased locomotor activity, lymphoid hyperplasia, increased lymphocyte cell number, embryonic lethality prior to organogenesis
Human ciliopathy phenotype:
Intellectual disability

Subcellular localization

cilia, nucleus, ciliary tip, motile cilia

References: PMID:41005307, PMID:39677731

Functional category

  • Ciliary assembly/disassembly
  • Metabolism

Function

CHD8 has localized in cilia. GFP-tagged CHD8, an autism-associated chromatin regulator, localizes to motile cilia (Kostyanovskaya et al., 2025, bioRxiv, PMID 39677731).