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 D... See more...

Aliases for MCM2 Gene

Aliases for MCM2 Gene

  • Minichromosome Maintenance Complex Component 2 2 3 5
  • BM28 2 3 4
  • Minichromosome Maintenance Protein 2 Homolog 3 4
  • DNA Replication Licensing Factor MCM2 3 4
  • Nuclear Protein BM28 3 4
  • KIAA0030 2 4
  • D3S3194 2 3
  • DFNA70 2 3
  • CCNL1 3 4
  • CDCL1 3 4
  • Cdc19 2 3
  • MCM2 Minichromosome Maintenance Deficient 2, Mitotin (S. Cerevisiae) 2
  • Minichromosome Maintenance Deficient (S. Cerevisiae) 2 (Mitotin) 2
  • Minichromosome Maintenance Deficient 2 (Mitotin) 3
  • Cell Devision Cycle-Like 1 3
  • Cyclin-Like 1 3
  • EC 3.6.4.12 4
  • Mitotin 2
  • MITOTIN 3
  • MCM2 5

External Ids for MCM2 Gene

Previous HGNC Symbols for MCM2 Gene

  • CCNL1
  • CDCL1

Previous GeneCards Identifiers for MCM2 Gene

  • GC03P124148
  • GC03P127476
  • GC03P128598
  • GC03P128638
  • GC03P128799
  • GC03P127317
  • GC03P124697

Summaries for MCM2 Gene

Entrez Gene Summary for MCM2 Gene

  • 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]

GeneCards Summary for MCM2 Gene

MCM2 (Minichromosome Maintenance Complex Component 2) is a Protein Coding gene. Diseases associated with MCM2 include Deafness, Autosomal Dominant 70 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Cell Cycle, Mitotic and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include ATPase activity and DNA helicase activity. An important paralog of this gene is MCM4.

UniProtKB/Swiss-Prot Summary for MCM2 Gene

  • Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for the entry in S phase and for cell division. Plays a role in terminally differentiated hair cells development of the cochlea and induces cells apoptosis.

Gene Wiki entry for MCM2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCM2 Gene

Genomics for MCM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCM2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCM2

Top Transcription factor binding sites by QIAGEN in the MCM2 gene promoter:
  • ATF-2
  • c-Jun
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • GR
  • GR-alpha
  • HOXA5
  • N-Myc
  • p53

Genomic Locations for MCM2 Gene

Latest Assembly
chr3:127,598,410-127,622,436
(GRCh38/hg38)
Size:
24,027 bases
Orientation:
Plus strand

Previous Assembly
chr3:127,317,254-127,341,279
(GRCh37/hg19 by Entrez Gene)
Size:
24,026 bases
Orientation:
Plus strand

chr3:127,317,066-127,341,276
(GRCh37/hg19 by Ensembl)
Size:
24,211 bases
Orientation:
Plus strand

Genomic View for MCM2 Gene

Genes around MCM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCM2 Gene

Proteins for MCM2 Gene

  • Protein details for MCM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49736-MCM2_HUMAN
    Recommended name:
    DNA replication licensing factor MCM2
    Protein Accession:
    P49736
    Secondary Accessions:
    • Q14577
    • Q15023
    • Q8N2V1
    • Q969W7
    • Q96AE1
    • Q9BRM7

    Protein attributes for MCM2 Gene

    Size:
    904 amino acids
    Molecular mass:
    101896 Da
    Quaternary structure:
    • Component of the MCM2-7 complex (PubMed:9305914, PubMed:16899510, PubMed:17296731). The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7-MCM3-MCM5 (PubMed:9305914, PubMed:16899510, PubMed:17296731). Interacts with DBF4 (By similarity). Interacts with KAT7 (PubMed:16387653). May interact with MCM10 (PubMed:11095689). Component of the replisome complex composed of at least DONSON, MCM2, MCM7, PCNA and TICRR (PubMed:28191891). Component of the CMG helicase complex, composed of the MCM2-7 complex, the GINS complex and CDC45 (By similarity).
    SequenceCaution:
    • Sequence=BAA04642.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA12177.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA47749.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAA47749.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Early fractionation of eukaryotic MCM proteins yielded a variety of dimeric, trimeric and tetrameric complexes with unclear biological significance. Specifically a MCM467 subcomplex is shown to have in vitro helicase activity which is inhibited by the MCM2 subunit. The MCM2-7 hexamer is the proposed physiological active complex.

    Three dimensional structures from OCA and Proteopedia for MCM2 Gene

neXtProt entry for MCM2 Gene

Post-translational modifications for MCM2 Gene

  • Phosphorylated on Ser-108 by ATR in proliferating cells. Ser-108 proliferation is increased by genotoxic agents. Ser-40 is mediated by the CDC7-DBF4 and CDC7-DBF4B complexes, while Ser-53 phosphorylation is only mediated by the CDC7-DBF4 complex. Phosphorylation by the CDC7-DBF4 complex during G1/S phase is required for the initiation of DNA replication.
  • Ubiquitination at Lys178, Lys469, Lys476, Lys492, Lys613, and Lys722
  • Modification sites at PhosphoSitePlus

Other Protein References for MCM2 Gene

Antibodies for research

  • Abcam antibodies for MCM2

No data available for DME Specific Peptides for MCM2 Gene

Domains & Families for MCM2 Gene

Gene Families for MCM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MCM2 Gene

InterPro:
Blocks:
  • MCM family
  • Mini-chromosome maintenance (MCM) protein 2 signature

Suggested Antigen Peptide Sequences for MCM2 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear protein BM28 (MCM2_HUMAN)
  • MCM2 protein (Q9BWF4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49736

UniProtKB/Swiss-Prot:

MCM2_HUMAN :
  • Belongs to the MCM family.
Family:
  • Belongs to the MCM family.
genes like me logo Genes that share domains with MCM2: view

Function for MCM2 Gene

Molecular function for MCM2 Gene

UniProtKB/Swiss-Prot Function:
Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for the entry in S phase and for cell division. Plays a role in terminally differentiated hair cells development of the cochlea and induces cells apoptosis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;.
GENATLAS Biochemistry:
cell division cycle,early S-phase-like 1,involved in an early step of DNA replication,participating in the cell cycle control of genome duplication

Enzyme Numbers (IUBMB) for MCM2 Gene

Phenotypes From GWAS Catalog for MCM2 Gene

Gene Ontology (GO) - Molecular Function for MCM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA,TAS 8175912
GO:0003678 DNA helicase activity IEA --
GO:0003688 DNA replication origin binding IEA,IBA 21873635
GO:0003697 single-stranded DNA binding IBA 21873635
genes like me logo Genes that share ontologies with MCM2: view
genes like me logo Genes that share phenotypes with MCM2: view

Human Phenotype Ontology for MCM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MCM2 Gene

Localization for MCM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCM2 Gene

Nucleus. Chromosome. Note=Associated with chromatin before the formation of nuclei and detaches from it as DNA replication progresses. {ECO:0000250 UniProtKB:P55861}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCM2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
extracellular 2
mitochondrion 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region HDA 19135898
GO:0000785 chromatin TAS,IDA 16899510
GO:0005634 nucleus IEA,IDA 16899510
GO:0005654 nucleoplasm IDA,TAS --
GO:0005664 nuclear origin of replication recognition complex IEA --
genes like me logo Genes that share ontologies with MCM2: view

Pathways & Interactions for MCM2 Gene

genes like me logo Genes that share pathways with MCM2: view

Pathways by source for MCM2 Gene

2 GeneGo (Thomson Reuters) pathways for MCM2 Gene
  • Cell cycle Start of DNA replication in early S phase
  • Cell cycle Transition and termination of DNA replication
1 Qiagen pathway for MCM2 Gene
  • Cell Cycle Control of Chromosomal Replication
1 Cell Signaling Technology pathway for MCM2 Gene

SIGNOR curated interactions for MCM2 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for MCM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000727 double-strand break repair via break-induced replication IBA 21873635
GO:0006260 DNA replication IEA,TAS --
GO:0006267 pre-replicative complex assembly involved in nuclear cell cycle DNA replication IBA 21873635
GO:0006268 DNA unwinding involved in DNA replication IEA,IBA 21873635
genes like me logo Genes that share ontologies with MCM2: view

Drugs & Compounds for MCM2 Gene

(7) Drugs for MCM2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(2) Additional Compounds for MCM2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with MCM2: view

Transcripts for MCM2 Gene

mRNA/cDNA for MCM2 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCM2

Alternative Splicing Database (ASD) splice patterns (SP) for MCM2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - - - - - -
SP3:
SP4:
SP5:

Relevant External Links for MCM2 Gene

GeneLoc Exon Structure for
MCM2

Expression for MCM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCM2 Gene

This gene is overexpressed in Liver (39.1), Lymph node (7.1), and Fetal ovary (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MCM2 Gene



Protein tissue co-expression partners for MCM2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCM2

SOURCE GeneReport for Unigene cluster for MCM2 Gene:

Hs.477481

Evidence on tissue expression from TISSUES for MCM2 Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Liver(4.6)
  • Muscle(4.6)
  • Blood(4.5)
  • Bone marrow(4.4)
  • Skin(3.6)
  • Intestine(3.4)
  • Eye(2.7)
  • Heart(2.7)
  • Lymph node(2.6)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with MCM2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCM2 Gene

Orthologs for MCM2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCM2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MCM2 29 30
  • 99.56 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MCM2 30
  • 94 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MCM2 30
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MCM2 29 30
  • 89.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mcm2 29 16 30
  • 87.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mcm2 29
  • 86.91 (n)
Cow
(Bos Taurus)
Mammalia MCM2 29 30
  • 85.89 (n)
OneToOne
Chicken
(Gallus gallus)
Aves MCM2 29 30
  • 81.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MCM2 30
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mcm2 29
  • 75.16 (n)
Str.1626 29
African clawed frog
(Xenopus laevis)
Amphibia mcm2-prov 29
Zebrafish
(Danio rerio)
Actinopterygii mcm2 29 30
  • 74.81 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7968 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004275 29
  • 63.58 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Mcm2 29 30 31
  • 62.91 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mcm-2 29 30 31
  • 57.36 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR178W 29
  • 55.48 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12584g 29
  • 52.48 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCM2 29 30 32
  • 51.96 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MCM2 29
  • 54.2 (n)
Soybean
(Glycine max)
eudicotyledons Gma.2371 29
Rice
(Oryza sativa)
Liliopsida Os11g0484300 29
  • 56.54 (n)
Os.12974 29
Barley
(Hordeum vulgare)
Liliopsida Hv.3981 29
Wheat
(Triticum aestivum)
Liliopsida Ta.2860 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 66 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU04327 29
  • 58.69 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mcm2 29
  • 53.37 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.647 29
Species where no ortholog for MCM2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MCM2 Gene

ENSEMBL:
Gene Tree for MCM2 (if available)
TreeFam:
Gene Tree for MCM2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCM2: view image
Alliance of Genome Resources:
Additional Orthologs for MCM2

Paralogs for MCM2 Gene

Paralogs for MCM2 Gene

(6) SIMAP similar genes for MCM2 Gene using alignment to 7 proteins:

  • MCM2_HUMAN
  • C9J013_HUMAN
  • C9JZ21_HUMAN
  • F8WDM3_HUMAN
  • H0Y8E6_HUMAN
  • H7C4N9_HUMAN
  • Q9BWF4_HUMAN
genes like me logo Genes that share paralogs with MCM2: view

Variants for MCM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCM2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1032222 Uncertain Significance: Deafness, autosomal dominant 70 127,608,511(+) G/A
NM_004526.4(MCM2):c.1231G>A (p.Glu411Lys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1032223 Uncertain Significance: Deafness, autosomal dominant 70 127,615,880(+) C/T
NM_004526.4(MCM2):c.1447C>T (p.Pro483Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1032224 Uncertain Significance: Deafness, autosomal dominant 70 127,604,648(+) G/A
NM_004526.4(MCM2):c.277G>A (p.Glu93Lys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
988335 Likely Pathogenic: not provided 127,606,636(+) G/C
NM_004526.4(MCM2):c.920G>C (p.Arg307Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs13087457 Likely Benign: not specified; not provided 127,615,934(+) G/Ap.Gly501Arg
NM_004526.4(MCM2):c.1501G>A (p.Gly501Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MCM2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MCM2 Gene

Variant ID Type Subtype PubMed ID
dgv8563n54 CNV loss 21841781
esv2102273 CNV deletion 18987734
esv2555442 CNV deletion 19546169
esv2653998 CNV deletion 19546169

Variation tolerance for MCM2 Gene

Residual Variation Intolerance Score: 8.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.27; 62.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCM2 Gene

Human Gene Mutation Database (HGMD)
MCM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCM2
Leiden Open Variation Database (LOVD)
MCM2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCM2 Gene

Disorders for MCM2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MCM2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal dominant 70
  • dfna70
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
cervix endometriosis
  • cervical endometriosis
proliferative verrucous leukoplakia
  • proliferative verrucous oral leukoplakia
follicular adenoma
  • follicular adenoma of the thyroid gland
- elite association - COSMIC cancer census association via MalaCards
Search MCM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCM2_HUMAN
  • Deafness, autosomal dominant, 70 (DFNA70) [MIM:616968]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA70 is characterized by slowly progressive, postlingual hearing impairment. {ECO:0000269 PubMed:26196677}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MCM2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MCM2: view

No data available for Genatlas for MCM2 Gene

Publications for MCM2 Gene

  1. Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. (PMID: 26196677) Gao J … Liu Y (PloS one 2015) 2 3 4 72
  2. The human gene for nuclear protein BM28 (CDCL1), a new member of the early S-phase family of proteins, maps to chromosome band 3q21. (PMID: 8258304) Mincheva A … Lichter P (Cytogenetics and cell genetics 1994) 2 3 4 22
  3. Essential role of phosphorylation of MCM2 by Cdc7/Dbf4 in the initiation of DNA replication in mammalian cells. (PMID: 16899510) Tsuji T … Jiang W (Molecular biology of the cell 2006) 3 4 22
  4. The human homolog of Saccharomyces cerevisiae Mcm10 interacts with replication factors and dissociates from nuclease-resistant nuclear structures in G(2) phase. (PMID: 11095689) Izumi M … Hanaoka F (Nucleic acids research 2000) 3 4 22
  5. Nuclear matrix protein mitotin messenger RNA is expressed at constant levels during the cell cycle. (PMID: 1710453) Todorov IT … Bibor-Hardy V (Biochemical and biophysical research communications 1991) 2 3 22

Products for MCM2 Gene

  • Addgene plasmids for MCM2

Sources for MCM2 Gene