MCM7 Gene
Minichromosome Maintenance Complex Component 7
Gene Information Card
| Symbol | MCM7 |
|---|---|
| Full Name | Minichromosome Maintenance Complex Component 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 4176 ncbi.nlm.nih.gov/gene/4176 |
| Ensembl ID | ENSG00000166508 |
| UniProt ID | P33993 |
| OMIM ID | 600592 |
| HGNC ID | 6950 |
| Aliases | CDC47, MCM2, P1.1-MCM3 |
Description
MCM7 encodes a component of the minichromosome maintenance (MCM) complex, which is essential for DNA replication initiation and elongation. The MCM complex is a hexamer of MCM2-7 proteins that functions as a replicative helicase. MCM7 is involved in cell cycle regulation and is frequently overexpressed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of MCM7 promotes uncontrolled cell proliferation | PMID: 23454719 |
| Cervical cancer | MCM7 amplification and overexpression linked to HPV integration | PMID: 16959974 |
| Prostate cancer | MCM7 upregulation correlates with tumor progression and poor prognosis | PMID: 18316794 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Lung | 10.8 | Medium |
| Liver | 9.3 | Medium |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| HepG2 | 28.7 | Hepatocellular carcinoma cell line |
| A549 | 22.4 | Lung adenocarcinoma cell line |
| MCF7 | 18.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Unknown functional impact |
| c.1546C>T (p.Arg516Trp) | Missense | <0.1% | Unknown functional impact |
| c.1789_1790insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1789_1790insA) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • DNA replication initiation | • DNA helicase activity |
| • chromatin binding | • cell cycle |
| • nucleus | • MCM complex |
Pathways
• Cell Cycle
• DNA Replication
• E2F transcription factor network
Protein Summary
MCM7 is a 719-amino acid protein that forms part of the MCM2-7 helicase complex. It contains an AAA+ ATPase domain essential for DNA unwinding during replication. The protein is localized to the nucleus and is regulated by cyclin-dependent kinases. Overexpression is observed in multiple cancers, making it a potential biomarker and therapeutic target.
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