MCM6 Gene - Minichromosome Maintenance Complex Component 6
Essential regulator of DNA replication initiation and cell cycle progression
Gene Information Card
| Symbol | MCM6 |
|---|---|
| Full Name | Minichromosome Maintenance Complex Component 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q21.3 |
| NCBI Gene ID | 4175 ncbi.nlm.nih.gov/gene/4175 |
| Ensembl ID | ENSG00000176022 |
| UniProt ID | Q14566 |
| OMIM ID | 601806 |
| HGNC ID | 6949 |
| Aliases | Mis5, p105MCM, MCM6_HUMAN |
Description
MCM6 encodes a component of the minichromosome maintenance (MCM) complex, a hexameric helicase essential for DNA replication initiation and elongation. MCM6 interacts with other MCM subunits (MCM2-7) and is regulated by cell cycle-dependent phosphorylation. It also plays a role in chromatin remodeling and genome stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary persistence of fetal hemoglobin (HPFH) | MCM6 variants in regulatory regions affect BCL11A binding, altering fetal hemoglobin expression | OMIM #601806; ClinVar |
| Colorectal cancer | Overexpression or amplification of MCM6 contributes to uncontrolled DNA replication and proliferation | COSMIC; NCBI Gene |
| Breast cancer | Elevated MCM6 expression correlates with poor prognosis and increased replication licensing | COSMIC; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 22.3 | High |
| Lymph node | 18.7 | High |
| Brain | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line; high proliferation |
| HEK293 | 25.4 | Embryonic kidney; moderate expression |
| MCF7 | 29.8 | Breast cancer; elevated |
| HCT116 | 35.2 | Colorectal cancer; high replication activity |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1721A>G (p.Asn574Ser) | Missense | 0.01% (gnomAD) | Unknown functional impact; rare population variant |
| c.2446C>T (p.Arg816Trp) | Missense | 0.003% | Potential loss of helicase activity; reported in ClinVar |
| Amplification (2q21.3) | Copy number gain | ~5% in colorectal cancer (COSMIC) | Increased MCM6 expression; oncogenic |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg816Trp) may impair helicase activity or complex assembly, leading to replication stress.
Gain of Function (GOF)
Gene amplification or overexpression enhances replication licensing, promoting uncontrolled cell proliferation in cancers.
Dominant Negative (DN)
Not well documented; mutations disrupting MCM complex integrity could exert dominant-negative effects by sequestering other subunits.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity (GO:0003678) | • DNA replication initiation (GO:0006270) |
| • MCM complex (GO:0042555) | • chromatin binding (GO:0003682) |
| • cell cycle (GO:0007049) |
Pathways
• Cell Cycle (KEGG hsa04110)
• DNA Replication (KEGG hsa03030)
• MCM Pathway (Reactome R-HSA-68962)
Protein Summary
MCM6 is a 821-amino acid protein (UniProt Q14566) that forms part of the MCM2-7 hexameric helicase complex. It contains an AAA+ ATPase domain essential for DNA unwinding during replication. MCM6 also interacts with chromatin licensing factors and is regulated by CDK phosphorylation. Its expression is tightly linked to cell proliferation and is frequently dysregulated in cancer.
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