HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CDCA7
cell division cycle associated 7
Chromosome 2 Β· 2q31.1
NCBI Gene: 83879Ensembl: ENSG00000144354.16HGNC: HGNC:14628UniProt: Q9BWT1
50PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of cell population proliferationprotein bindinghemi-methylated DNA-bindingnucleusICF syndromeprostate carcinomaimmunodeficiency-centromeric instability-facial anomalies syndromeAbnormal intestine morphology
✦AI Summary

CDCA7 (cell division cycle associated 7) functions as a critical cofactor for chr2 remodeling and DNA methylation maintenance. Its primary function involves recognizing hemimethylated CpG sites within nucleosomes through its unique zinc-finger domain, termed the hemimethylation-sensing zinc finger (HMZF) domain 1. CDCA7 recruits the chr2 remodeler HELLS to specific genomic regions, facilitating chr2 remodeling and enabling access of DNA methyltransferases to heterochromatic regions for proper DNA methylation establishment 1. The protein also recognizes CpG dyads in non-B DNA structures formed by specific sequence motifs, with preferential binding to strand-specific hemi-methylated sites 2. Beyond epigenetic regulation, CDCA7 participates in cancer progression across multiple tumor types. In pancreatic cancer, it enhances STAT3 transcriptional activity to regulate aerobic glycolysis and promote gemcitabine resistance 3. High CDCA7 expression correlates with poor prognosis in colorectal cancer, associating with invasion depth, lymph node metastasis, and distant metastasis 4. Clinically, CDCA7 mutations cause immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome, characterized by DNA hypomethylation at heterochromatin and immune deficiencies 5. The protein's dysfunction leads to aberrant DNA hypomethylation across multiple tissues, resulting in localized, tissue-specific transcriptional dysregulation affecting large gene clusters 6.

Sources cited
1
CDCA7 functions as a hemimethylated DNA sensor with unique zinc-finger domain that recognizes hemimethylated CpG within nucleosomes and recruits HELLS for chromatin remodeling
PMID: 39178260
2
CDCA7 harbors a unique DNA binding domain that recognizes CpG dyads in non-B DNA structures with preferential binding to hemi-methylated sites
PMID: 39178265
3
CDCA7 enhances STAT3 transcriptional activity to regulate aerobic glycolysis and promote pancreatic cancer progression and gemcitabine resistance
PMID: 39905019
4
High CDCA7 expression correlates with poor prognosis in colorectal cancer and associates with invasion depth, lymph node metastasis, and distant metastasis
PMID: 32319649
5
CDCA7 mutations cause ICF syndrome characterized by immune deficiencies and altered helper T cell transcription factor expression
PMID: 39320531
6
CDCA7 disruption leads to global DNA hypomethylation and localized, tissue-specific transcriptional dysregulation affecting large gene clusters
PMID: 38335290
Disease Associationsβ“˜21
ICF syndromeOpen Targets
0.64Moderate
prostate carcinomaOpen Targets
0.52Moderate
Abnormal intestine morphologyOpen Targets
0.46Moderate
immunodeficiency-centromeric instability-facial anomalies syndromeOpen Targets
0.46Moderate
Recurrent respiratory infectionsOpen Targets
0.46Moderate
androgenetic alopeciaOpen Targets
0.44Moderate
breast cancerOpen Targets
0.43Moderate
breast carcinomaOpen Targets
0.42Moderate
alopeciaOpen Targets
0.37Weak
ovarian carcinomaOpen Targets
0.33Weak
lung cancerOpen Targets
0.33Weak
mathematical abilityOpen Targets
0.33Weak
monoclonal gammopathyOpen Targets
0.32Weak
multiple myelomaOpen Targets
0.32Weak
Graves diseaseOpen Targets
0.30Weak
nicotine dependenceOpen Targets
0.30Weak
cardiovascular diseaseOpen Targets
0.28Weak
eye diseaseOpen Targets
0.24Weak
auditory system diseaseOpen Targets
0.23Weak
drug allergyOpen Targets
0.23Weak
Immunodeficiency-centromeric instability-facial anomalies syndrome 3UniProt
Pathogenic Variants3
NM_031942.5(CDCA7):c.1058G>A (p.Arg353His)Likely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 3|not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 353
NM_031942.5(CDCA7):c.1057C>T (p.Arg353Cys)Likely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 3|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 353
NM_031942.5(CDCA7):c.1223G>A (p.Cys408Tyr)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 408
View on ClinVar β†—
Related Genes
TFAP2DShared pathway100%TFAP2EShared pathway100%BRICD5Shared pathway100%GKN2Shared pathway100%HELLSProtein interaction73%ZBTB24Protein interaction73%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
48%
Lung
4%
Heart
3%
Ovary
3%
Liver
1%
Gene Interaction Network
Click a node to explore
CDCA7TFAP2DTFAP2EBRICD5GKN2HELLSZBTB24
PROTEIN STRUCTURE
Preparing viewer…
PDB8TLK Β· 2.99 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.49 [0.36–0.68]
RankingsWhere CDCA7 stands among ~20K protein-coding genes
  • #8,784of 20,598
    Most Researched50
  • #4,057of 5,498
    Most Pathogenic Variants3
  • #5,006of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedCDCA7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Research into the characteristic molecules significantly affecting liver cancer immunotherapy.
PMID: 36860864
Front Immunol Β· 2023
1.00
2
CDCA7 is an evolutionarily conserved hemimethylated DNA sensor in eukaryotes.
PMID: 39178260
Sci Adv Β· 2024
0.90
3
Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndrome.
PMID: 39320531
J Clin Immunol Β· 2024
0.80
4
CDCA7-associated global aberrant DNA hypomethylation translates to localized, tissue-specific transcriptional responses.
PMID: 38335290
Sci Adv Β· 2024
0.70
5
High expression of CDCA7 predicts tumor progression and poor prognosis in human colorectal cancer.
PMID: 32319649
Mol Med Rep Β· 2020
0.60