CDCA7 encodes cell division cycle associated 7 (371 aa). Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Highest expression in Cells EBV-transformed lymphocytes (54.1 TPM) and Small Intestine Terminal Ileum (20.8 TPM).

Immunodeficiency-centromeric instability-facial anomalies syndrome 3 has limited evidence linking it to mutations in the CDCA7 gene on chromosome 2.

CDCA7 is classified as a druggable target with score 0.0.

Genetic testing for CDCA7 is available. Testing is considered research-grade for diagnosis.

Phenotype severity distribution: 1 always present feature, 1 very common feature, 2 common features.

No clinical trials have been registered for immunodeficiency-centromeric instability-facial anomalies syndrome 3.

13 publications have been identified in PubMed for immunodeficiency-centromeric instability-facial anomalies syndrome 3. Research spans Basic Science / Preclinical (54%), Case Report / Case Series (23%), and Review / Meta-Analysis (15%).

Recent Publications

• Givol O (2026). [PMID: 41359419](https://pubmed.ncbi.nlm.nih.gov/41359419/). *Hum Mol Genet*. [Case Report / Case Series]

• Gao J (2026). [PMID: 41859080](https://pubmed.ncbi.nlm.nih.gov/41859080/). *Front Immunol*. [Case Report / Case Series]

• Chen F (2026). [PMID: 42234582](https://pubmed.ncbi.nlm.nih.gov/42234582/). *Nucleic Acids Res*. [Basic Science / Preclinical]

• Wang S (2025). [PMID: 41370347](https://pubmed.ncbi.nlm.nih.gov/41370347/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

• Unoki M (2025). [PMID: 40500184](https://pubmed.ncbi.nlm.nih.gov/40500184/). *Genes Genet Syst*. [Review / Meta-Analysis]

• Roark CM (2025). [PMID: 40103177](https://pubmed.ncbi.nlm.nih.gov/40103177/). *Clin Exp Immunol*. [Case Report / Case Series]

• Grillo G (2025). [PMID: 39562305](https://pubmed.ncbi.nlm.nih.gov/39562305/). *Hum Mol Genet*. [Basic Science / Preclinical]

• Shinkai A (2024). [PMID: 39142653](https://pubmed.ncbi.nlm.nih.gov/39142653/). *Nucleic Acids Res*. [Basic Science / Preclinical]

• Lullo V (2024). [PMID: 39040103](https://pubmed.ncbi.nlm.nih.gov/39040103/). *Front Immunol*. [Basic Science / Preclinical]

• Cho CC (2024). [PMID: 39290110](https://pubmed.ncbi.nlm.nih.gov/39290110/). *Protein Sci*. [Basic Science / Preclinical]