CDCA7 Gene - Cell Division Cycle Associated 7: Function, Mutations, and Disease

CDCA7 (Cell Division Cycle Associated 7) is a protein-coding gene that encodes a nuclear protein involved in cell cycle regulation and transcriptional control. It is a direct target of the MYC oncogene and plays a role in cell proliferation, DNA replication, and chromatin remodeling. Mutations in CDCA7 are associated with immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome type 3. The gene is also implicated in various cancers, particularly hematological malignancies.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• MYC transcriptional activation of cell cycle genes

• DNA methylation and chromatin remodeling (ICF pathway)

The CDCA7 protein is a nuclear factor of 371 amino acids (UniProt Q9BWT1) that contains a conserved C-terminal domain involved in chromatin binding. It is a direct transcriptional target of MYC and participates in cell cycle progression and DNA replication. CDCA7 interacts with the chromatin remodeling complex HELLS, which is essential for DNA methylation maintenance. Loss of CDCA7 function leads to hypomethylation of pericentromeric repeats and immune dysfunction characteristic of ICF syndrome.