MCM2 Gene (Minichromosome Maintenance Complex Component 2)
Essential DNA Replication Licensing Factor and Cancer Biomarker
Gene Information Card
| Symbol | MCM2 |
|---|---|
| Full Name | Minichromosome Maintenance Complex Component 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 4171 ncbi.nlm.nih.gov/gene/4171 |
| Ensembl ID | ENSG00000073111 |
| UniProt ID | P49736 |
| OMIM ID | 601116 |
| HGNC ID | 6944 |
| Aliases | BM28, Cdc19, D3S3194, MITOTIN, cdc19 homolog |
Description
MCM2 encodes a component of the minichromosome maintenance (MCM) complex, a hexameric helicase essential for initiating and elongating DNA replication. MCM2 is a licensing factor that ensures DNA replication occurs only once per cell cycle. It is widely used as a proliferation marker in cancer diagnostics and is associated with various malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of MCM2 correlates with increased proliferation and poor prognosis. | ClinVar, COSMIC |
| Colorectal Cancer | Elevated MCM2 expression is associated with tumor progression and metastasis. | NCBI Gene, COSMIC |
| Lung Cancer | MCM2 upregulation is linked to aggressive tumor behavior and reduced survival. | ClinVar, COSMIC |
| Prostate Cancer | MCM2 is a marker of cell proliferation and predicts biochemical recurrence. | NCBI Gene, COSMIC |
| Meier-Gorlin Syndrome 4 | Homozygous mutations in MCM2 cause primordial dwarfism and microcephaly. | OMIM #601116 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Bone Marrow | 25.3 | High |
| Lymph Node | 20.1 | High |
| Colon | 15.2 | Medium |
| Breast | 12.8 | Medium |
| Lung | 10.4 | Medium |
| Liver | 6.7 | Low |
| Brain | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 45.2 | Cervical cancer cell line; high expression |
| MCF7 | 38.1 | Breast cancer cell line; high expression |
| A549 | 32.6 | Lung cancer cell line; high expression |
| HEK293 | 18.4 | Embryonic kidney; moderate expression |
| K562 | 22.7 | Leukemia cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172G>A (p.Gly58Arg) | Missense | Rare | Loss of helicase activity; associated with Meier-Gorlin syndrome |
| c.446C>T (p.Pro149Leu) | Missense | Rare | Impaired DNA replication licensing |
| c.1015A>G (p.Asn339Asp) | Missense | Rare | Reduced chromatin binding |
| c.1342C>T (p.Arg448Trp) | Missense | Rare | Dominant-negative effect on replication |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the ATPase domain (e.g., p.Gly58Arg) impair helicase activity and DNA replication licensing.
Gain of Function (GOF)
Not reported; MCM2 gain-of-function mutations are not documented in current databases.
Dominant Negative (DN)
p.Arg448Trp disrupts MCM complex assembly and inhibits wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication initiation (GO:0006270) | • DNA helicase activity (GO:0003678) |
| • chromatin binding (GO:0003682) | • cell cycle (GO:0007049) |
| • nucleus (GO:0005634) | • MCM complex (GO:0042555) |
Pathways
• Cell Cycle (KEGG hsa04110)
• DNA Replication (KEGG hsa03030)
• G1/S Transition (Reactome R-HSA-69206)
• Activation of the pre-replicative complex (Reactome R-HSA-68962)
Protein Summary
MCM2 is a 904-amino-acid protein (90.8 kDa) that forms part of the MCM2-7 hexameric helicase complex. It contains an N-terminal domain for chromatin binding and a C-terminal AAA+ ATPase domain essential for DNA unwinding. MCM2 is phosphorylated by cyclin-dependent kinases (CDKs) and the Dbf4-dependent kinase (DDK) to regulate replication licensing. Its expression is tightly cell-cycle regulated, peaking at G1/S phase.
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