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

Summary

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: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (127598411..127622436)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (130333077..130357098)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (127317254..127341279)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KNTC1 knockdown inhibits the proliferation and migration of osteosarcoma cells by MCM2.
Title: KNTC1 knockdown inhibits the proliferation and migration of osteosarcoma cells by MCM2.
MCM2 is involved in subtyping and tamoxifen resistance of ERalpha-positive breast cancer by acting as the downstream factor of ERalpha.
Title: MCM2 is involved in subtyping and tamoxifen resistance of ERα-positive breast cancer by acting as the downstream factor of ERα.
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.
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.
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.
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.
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.
MCM2 in human cancer: functions, mechanisms, and clinical significance.
Title: MCM2 in human cancer: functions, mechanisms, and clinical significance.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (131)

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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-30693 (e-PCR)
- UniSTS:16655

GDB:568593 (e-PCR)
- UniSTS:157727

csnpmcm2-pcr1-1 (e-PCR)
- UniSTS:243040

csnpmcm2-pcr6-1 (e-PCR)
- UniSTS:243041

D3S3345 (e-PCR)
- UniSTS:67443

RH25268 (e-PCR)
- UniSTS:91813

STS-X67334 (e-PCR)
- UniSTS:55752

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 ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables DNA replication origin binding	IEA Inferred from Electronic Annotation more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables histone binding	EXP Inferred from Experiment more info	PubMed
enables histone binding	IPI Inferred from Physical Interaction more info	PubMed
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 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info
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 chromatin looping	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
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	HDA more info	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

EC 3.6.4.12

XP_024309299.1

EC 3.6.4.12

XP_054202535.1

EC 3.6.4.12

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

NG_050771.1 RefSeqGene

Range

5055..29080

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

127598411..127622436

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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