CHD2

chromodomain helicase DNA binding protein 2

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000173575
OMIM:: 602119
Synonyms:: DKFZP547I1315, DKFZP686E01200, DKFZP781D1727, FLJ38614

Phenotypes

Mouse phenotype:: short tibia, increased circulating aspartate transaminase level

Subcellular localization

cilia, Nucleoplasm, Nucleoli, Golgi apparatus, Vesicles, motile cilia

References: PMID:39677731

Function

We observed that chromatin regulators CHD8, CHD2, and POGZ, as well as synaptic protein SYNGAP1, not only localized to cilia, but were required for their formation. Human GFP-tagged constructs for autism-associated transcription factors SATB2 and RFX3 (green) localize to the nucleus (inset, deeper z-plane) and do not localize to motile cilia, while GFP-tagged constructs for autism-associated chromatin regulators ADNP, CHD8, CHD2, and POGZ do localize to motile cilia (labeled by acetylated alpha-Tubulin, magenta, basal bodies labeled by Centrin-CFP, cyan) when expressed in the X. laevis embryonic epidermis(39677731). GFP-tagged CHD2, an autism-associated chromatin regulator, localizes to motile cilia (Kostyanovskaya et al., 2025, bioRxiv, PMID 39677731).

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.