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MCM2 minichromosome maintenance complex component 2 [ Homo sapiens (human) ]

Gene ID: 4171, updated on 3-Apr-2024

Summary

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Official Symbol
MCM2provided by HGNC
Official Full Name
minichromosome maintenance complex component 2provided by HGNC
Primary source
HGNC:HGNC:6944
See related
Ensembl:ENSG00000073111 MIM:116945; AllianceGenome:HGNC:6944
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BM28; CCNL1; CDCL1; cdc19; DFNA70; D3S3194; MITOTIN
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]
Expression
Broad expression in bone marrow (RPKM 27.3), lymph node (RPKM 14.9) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
3q21.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (127598411..127622436)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (130333077..130357098)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (127317254..127341279)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127293720-127294299 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127294300-127294878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127298480-127299441 Neighboring gene transmembrane protein adipocyte associated 1 Neighboring gene microRNA 6825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127307841-127308518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127308519-127309195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14690 Neighboring gene microRNA 7976 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:127316932-127317889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127335678-127336178 Neighboring gene uncharacterized LOC107986126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14693 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20458 Neighboring gene podocalyxin like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127357688-127358188 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:127386638-127386819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14696 Neighboring gene ankyrin repeat and BTB domain containing 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. MCM2 in human cancer: functions, mechanisms, and clinical significance. Sun Y, et al. Mol Med, 2022 Oct 27. PMID 36303105, Free PMC Article
  2. MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family. Zeraatpisheh Z, et al. J Genet, 2022. PMID 35652205
  3. Expression of MCM2 as a Proliferative Marker in Actinic Keratosis and Cutaneous Squamous Cell Carcinoma. Rymsza A, et al. In Vivo, 2022 May-Jun. PMID 35478139, Free PMC Article
  4. MCM2 promotes the proliferation, migration and invasion of cholangiocarcinoma cells by reducing the p53 signaling pathway. Wang CL, et al. Yi Chuan, 2022 Mar 20. PMID 35307646
  5. Metallothionein protein and minichromosome maintenance protein-2 expression in adrenocortical tumors. Saiegh L, et al. Ann Endocrinol (Paris), 2019 Nov. PMID 31703800

See all (334) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Regulation of cancer stem cells by CXCL1, a chemokine whose secretion is controlled by MCM2.
    Title: Regulation of cancer stem cells by CXCL1, a chemokine whose secretion is controlled by MCM2.
  2. MCM2 promotes the stemness of endometrial cancer cells via the Akt/beta-catenin pathway.
    Title: MCM2 promotes the stemness of endometrial cancer cells via the Akt/β-catenin pathway.
  3. The importance of nuclear RAGE-Mcm2 axis in diabetes or cancer-associated replication stress.
    Title: The importance of nuclear RAGE-Mcm2 axis in diabetes or cancer-associated replication stress.
  4. Circ_0104700 contributes to acute myeloid leukemia progression by enhancing MCM2 expression through targeting miR-665.
    Title: Circ_0104700 contributes to acute myeloid leukemia progression by enhancing MCM2 expression through targeting miR-665.
  5. ESRG is critical to maintain the cell survival and self-renewal/pluripotency of hPSCs by collaborating with MCM2 to suppress p53 pathway.
    Title: ESRG is critical to maintain the cell survival and self-renewal/pluripotency of hPSCs by collaborating with MCM2 to suppress p53 pathway.
  6. MCM2 in human cancer: functions, mechanisms, and clinical significance.
    Title: MCM2 in human cancer: functions, mechanisms, and clinical significance.
  7. MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family.
    Title: MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family.
  8. Expression of MCM2 as a Proliferative Marker in Actinic Keratosis and Cutaneous Squamous Cell Carcinoma.
    Title: Expression of MCM2 as a Proliferative Marker in Actinic Keratosis and Cutaneous Squamous Cell Carcinoma.
  9. MCMBP promotes the assembly of the MCM2-7 hetero-hexamer to ensure robust DNA replication in human cells.
    Title: MCMBP promotes the assembly of the MCM2-7 hetero-hexamer to ensure robust DNA replication in human cells.
  10. MCM2 promotes the proliferation, migration and invasion of cholangiocarcinoma cells by reducing the p53 signaling pathway.
    Title: MCM2 promotes the proliferation, migration and invasion of cholangiocarcinoma cells by reducing the p53 signaling pathway.
Submit: New GeneRIF Correction See all GeneRIFs (129)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal dominant nonsyndromic hearing loss 70
MedGen: C4310775 OMIM: 616968 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat upregulates the expression of minichromosome maintenance complex component 2 (MCM2) in Jurkat cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0030, MGC10606

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to 3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables DNA replication origin binding IEA
Inferred from Electronic Annotation
more info
  
enables enzyme binding IEA
Inferred from Electronic Annotation
more info
  
enables histone binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to single-stranded DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in DNA replication TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA replication initiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA unwinding involved in DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA unwinding involved in DNA replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to interleukin-4 IEA
Inferred from Electronic Annotation
more info
  
involved_in cochlea development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in double-strand break repair via break-induced replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitotic DNA replication initiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nucleosome assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of DNA-templated DNA replication initiation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of CMG complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of CMG complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of MCM complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of MCM complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of MCM complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromosome, telomeric region HDA PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
part_of nuclear origin of replication recognition complex IEA
Inferred from Electronic Annotation
more info
  
NOT located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
DNA replication licensing factor MCM2
Names
cell devision cycle-like 1
cyclin-like 1
minichromosome maintenance deficient 2 (mitotin)
minichromosome maintenance protein 2 homolog
nuclear protein BM28
NP_004517.2
XP_024309299.1
XP_054202535.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050771.1 RefSeqGene

    Range
    5055..29080
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004526.4 → NP_004517.2  DNA replication licensing factor MCM2

    See identical proteins and their annotated locations for NP_004517.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes a functional protein.
    Source sequence(s)
    BC007938, DB100427
    Consensus CDS
    CCDS3043.1
    UniProtKB/Swiss-Prot
    P49736, Q14577, Q15023, Q8N2V1, Q969W7, Q96AE1, Q9BRM7
    UniProtKB/TrEMBL
    B7Z8Z6
    Related
    ENSP00000265056.7, ENST00000265056.12
    Conserved Domains (3) summary
    smart00350
    Location:291 → 803
    MCM; minichromosome maintenance proteins
    pfam12619
    Location:73 → 182
    MCM2_N; Mini-chromosome maintenance protein 2
    pfam14551
    Location:197 → 286
    MCM_N; MCM N-terminal domain

RNA

  1. NR_073375.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional segment in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK299934, BC000300
    Related
    ENST00000474964.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    127598411..127622436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453531.2 → XP_024309299.1  DNA replication licensing factor MCM2 isoform X1

    UniProtKB/TrEMBL
    B7Z8Z6
    Conserved Domains (3) summary
    smart00350
    Location:282 → 794
    MCM; minichromosome maintenance proteins
    pfam12619
    Location:64 → 173
    MCM2_N; Mini-chromosome maintenance protein 2
    pfam14551
    Location:190 → 278
    MCM_N; MCM N-terminal domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    130333077..130357098
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346560.1 → XP_054202535.1  DNA replication licensing factor MCM2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49736.4 GenPept UniProtKB/Swiss-Prot:P49736

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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