CDC6 Cell Division Cycle 6
A key regulator of DNA replication initiation and cell cycle progression
Gene Information Card
| Symbol | CDC6 |
|---|---|
| Full Name | Cell Division Cycle 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 990 ncbi.nlm.nih.gov/gene/990 |
| Ensembl ID | ENSG00000111640 |
| UniProt ID | Q99741 |
| OMIM ID | 602627 |
| HGNC ID | 1744 |
| Aliases | CDC18L, HsCDC6, HsCDC18 |
Description
The CDC6 gene encodes a protein essential for the initiation of DNA replication. It is a component of the pre-replication complex (pre-RC) that loads the minichromosome maintenance (MCM) complex onto chromatin during G1 phase. CDC6 is tightly regulated by cell cycle-dependent phosphorylation and ubiquitin-mediated degradation. Overexpression or dysregulation of CDC6 is associated with genomic instability and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meier-Gorlin syndrome 5 | Impaired pre-RC assembly due to CDC6 loss-of-function mutations | OMIM #617564 |
| Breast cancer | CDC6 overexpression leads to replication stress and genomic instability | COSMIC; PMID: 23431137 |
| Colorectal cancer | CDC6 amplification promotes tumorigenesis via aberrant replication initiation | COSMIC; PMID: 25686104 |
| Lung cancer | CDC6 upregulation correlates with poor prognosis and increased proliferation | COSMIC; PMID: 27149842 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Lymph node | 8.1 | Low |
| Brain | 3.4 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| A549 | 11.8 | Lung carcinoma cell line |
| MCF7 | 9.7 | Breast cancer cell line |
| HEK293 | 7.2 | Embryonic kidney cell line |
| K562 | 6.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.442C>T (p.Arg148Trp) | Missense | <0.01% | Impaired MCM loading; associated with Meier-Gorlin syndrome |
| c.1135C>T (p.Arg379Cys) | Missense | <0.01% | Reduced protein stability; reported in cancer |
| c.1462G>A (p.Glu488Lys) | Missense | <0.01% | Unknown functional effect; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the ATPase domain (e.g., p.Arg148Trp) impair MCM loading and replication initiation, leading to Meier-Gorlin syndrome.
Gain of Function (GOF)
Overexpression or amplification of wild-type CDC6 is observed in cancers, promoting replication origin firing and genomic instability.
Dominant Negative (DN)
Certain mutations (e.g., p.Arg148Trp) can act in a dominant-negative manner by forming inactive complexes with wild-type CDC6.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication initiation (GO:0006270) | • Pre-replicative complex assembly (GO:0006267) |
| • Cell cycle G1/S phase transition (GO:0044843) | • ATP binding (GO:0005524) |
| • Chromatin binding (GO:0003682) |
Pathways
• Cell Cycle (KEGG hsa04110)
• DNA Replication (KEGG hsa03030)
• G1/S Checkpoint (Reactome R-HSA-69278)
Protein Summary
CDC6 is a 560-amino acid protein with an N-terminal ATPase domain and a C-terminal domain involved in MCM loading. It localizes to the nucleus during G1 and is exported to the cytoplasm upon S phase entry. CDC6 is phosphorylated by CDK2 and cyclin A, leading to its ubiquitination and degradation. The protein is essential for once-per-cell-cycle DNA replication and is frequently overexpressed in cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC6 Knockout HEK293 Cell Line | EDJ-KQ3074 | Human | 8030 | Details Get a Quote |
| CCDC69 Knockout HEK293 Cell Line | EDJ-KQ8416 | Human | 26112 | Details Get a Quote |
| CCDC68 Knockout HEK293 Cell Line | EDJ-KQ9524 | Human | 80323 | Details Get a Quote |
| CCDC62 Knockout HEK293 Cell Line | EDJ-KQ10155 | Human | 84660 | Details Get a Quote |
| CCDC60 Knockout HEK293 Cell Line | EDJ-KQ12016 | Human | 160777 | Details Get a Quote |
| CCDC61 Knockout HEK293 Cell Line | EDJ-KQ12758 | Human | 729440 | Details Get a Quote |
| CCDC63 Knockout HEK293 Cell Line | EDJ-KQ12759 | Human | 160762 | Details Get a Quote |
| CCDC66 Knockout HEK293 Cell Line | EDJ-KQ12760 | Human | 285331 | Details Get a Quote |
| CCDC6 Knockout HCT 116 Cell Line | EDJ-KQ22981 | Human | 8030 | Details Get a Quote |
| CCDC69 Knockout HeLa Cell Line | EDJ-KQ33168 | Human | 26112 | Details Get a Quote |
| CCDC6 Knockout A-549 Cell Line | EDJ-KQ24357 | Human | 8030 | Details Get a Quote |
| CCDC6 Knockout HeLa Cell Line | EDJ-KQ24359 | Human | 8030 | Details Get a Quote |
| CCDC69 Knockout A-549 Cell Line | EDJ-KQ34500 | Human | 26112 | Details Get a Quote |
| CCDC69 Knockout HCT 116 Cell Line | EDJ-KQ34501 | Human | 26112 | Details Get a Quote |
| CCDC68 Knockout A-549 Cell Line | EDJ-KQ36289 | Human | 80323 | Details Get a Quote |
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