MCM2 Chromosome 3
Minichromosome maintenance complex component 2
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What This Gene Does
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]
Gene Info
Gene Group
"MCM family|minichromosome maintenance 2-7 complex"
Locus Type
gene with protein product
Location
3q21.3
Ensembl
ENSG00000073111
Key Variants
RS139163788
Conflicting classifications of pathogenicity
Health Risk
RS139336906
Conflicting classifications of pathogenicity
Health Risk
RS140905579
Conflicting classifications of pathogenicity
Health Risk
RS140928153
Conflicting classifications of pathogenicity
Health Risk
RS200244254
Conflicting classifications of pathogenicity
Health Risk
RS200752349
Conflicting classifications of pathogenicity
Health Risk
RS543054543
Conflicting classifications of pathogenicity
Health Risk
RS749079722
Conflicting classifications of pathogenicity
Health Risk
RS756785735
Conflicting classifications of pathogenicity
Health Risk
RS1553743140
Likely pathogenic
Health Risk
RS2074353310
Likely pathogenic
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139163788 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139336906 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140905579 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140928153 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200244254 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200752349 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS543054543 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749079722 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756785735 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1553743140 | Health Risk | Likely pathogenic | — |
| RS2074353310 | Health Risk | Likely pathogenic | — |