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GenoLensGenoLens

CDCA7

Chr 2q31.1

cell division cycle associated 7

Aliases:
FLJ14736, JPO1
MANE:
ENST00000306721.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • ICF syndrome

    0.61
  • prostate carcinoma

    0.51
  • Recurrent respiratory infections

    0.46
  • Abnormal intestine morphology

    0.46
  • immunodeficiency-centromeric instability-facial anomalies syndrome

    0.46
  • breast carcinoma

    0.42
  • breast cancer

    0.42
  • androgenetic alopecia

    0.42
  • alopecia

    0.36
  • ovarian carcinoma

    0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cell division cycle-associated protein 7

Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis (PubMed:11598121, PubMed:15994934, PubMed:23166294). Also functions as a critical cofactor for the chromatin remodeler HELLS, facilitating its recruitment to specific genomic regions to maintain DNA methylation patterns and heterochromatin integrity. Recognizes hemimethylated CpG within nucleosomes where it recruits HELLS to remodel chromatin and facilitate access of de novo DNA methyltransferases to heterochromatic regions, enabling proper establishment of DNA methylation patterns (PubMed:30307408, PubMed:39178260). May play a role as transcriptional regulator (PubMed:16580749)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.