MCM2 minichromosome maintenance complex component 2
Gene ID: 4171, updated on 5-Jan-2025Gene type: protein coding
Also known as: BM28; CCNL1; CDCL1; cdc19; DFNA70; D3S3194; MITOTIN
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- Go to complete Gene record for MCM2
- Go to Variation Viewer for MCM2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant nonsyndromic hearing loss 70 | See labs |
Genomic context
- Location:
- 3q21.3
- Sequence:
- Chromosome: 3; NC_000003.12 (127598411..127622436)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MCM2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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