CDCA4: Cell Division Cycle Associated 4

A regulator of cell cycle progression and transcription, implicated in cancer and developmental processes.

Gene Information Card

Symbol CDCA4
Full Name Cell Division Cycle Associated 4
Gene Type Protein coding
Chromosomal Location 14q32.33
NCBI Gene ID 55038 ncbi.nlm.nih.gov/gene/55038
Ensembl ID ENSG00000100823
UniProt ID Q9BRT8
OMIM ID 609977
HGNC ID 14623
Aliases SEP3, HEPP

Description

CDCA4 (Cell Division Cycle Associated 4) is a protein-coding gene located on chromosome 14q32.33. It encodes a transcription factor involved in cell cycle regulation, particularly during G1/S transition. CDCA4 interacts with E2F transcription factors and is implicated in cellular proliferation, differentiation, and apoptosis. Overexpression has been observed in various cancers, suggesting a role in oncogenesis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Overexpression of CDCA4 promotes cell proliferation and tumor growth; may act as an oncogene via E2F pathway activation. PMID: 23455423; COSMIC
Lung cancer Upregulation in non-small cell lung cancer correlates with poor prognosis; CDCA4 silencing reduces cell viability. PMID: 29187742; COSMIC
Colorectal cancer CDCA4 is overexpressed and associated with advanced tumor stage; knockdown induces cell cycle arrest. PMID: 30131756; COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 15.2 Medium
Bone marrow 10.8 Medium
Lymph node 8.5 Low
Breast 4.3 Low
Lung 3.1 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 12.5 Cervical cancer cell line
A549 9.8 Lung cancer cell line
MCF7 7.2 Breast cancer cell line
HCT116 6.5 Colorectal cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.287A>G (p.Asn96Ser) Missense <0.1% Unknown functional impact; reported in COSMIC
c.412C>T (p.Arg138Trp) Missense <0.1% Located in DNA-binding domain; potential loss of function
c.523_524insA Frameshift <0.1% Predicted to cause protein truncation; likely loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations in CDCA4 are predicted to result in truncated protein lacking functional domains, leading to loss of transcriptional regulatory activity.

Gain of Function (GOF)

Missense mutations in the DNA-binding domain may alter target gene specificity, potentially enhancing oncogenic activity.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for CDCA4.

Gene Ontology (GO)

• DNA-binding transcription factor activity • cell cycle
• G1/S transition of mitotic cell cycle • regulation of transcription by RNA polymerase II
• nucleus • protein binding

Pathways

E2F transcription factor network
Cell cycle (G1/S phase)
p53 signaling pathway (indirect)

Protein Summary

CDCA4 encodes a 241-amino acid protein containing a DNA-binding domain and a transactivation domain. It functions as a transcription factor that regulates genes involved in cell cycle progression, particularly at the G1/S checkpoint. The protein interacts with E2F1 and RB1, modulating transcriptional activity. CDCA4 is localized to the nucleus and is expressed in proliferating tissues. Its overexpression in multiple cancer types suggests a role in tumorigenesis.

Related Products

Product name Cat.No. Species Gene ID
CDCA4 Knockout HEK293 Cell Line EDJ-KQ3636 Human 55038 Details Get a Quote
CDCA4 Knockout A-549 Cell Line EDJ-KQ24209 Human 55038 Details Get a Quote
CDCA4 Knockout HCT 116 Cell Line EDJ-KQ25583 Human 55038 Details Get a Quote
CDCA4 Knockout HeLa Cell Line EDJ-KQ25584 Human 55038 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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