Human Gene MCM2 (ENST00000265056.12_5) from GENCODE V47lift37
  Description: minichromosome maintenance complex component 2, transcript variant 2 (from RefSeq NR_073375.2)
Gencode Transcript: ENST00000265056.12_5
Gencode Gene: ENSG00000073111.15_9
Transcript (Including UTRs)
   Position: hg19 chr3:127,317,254-127,341,279 Size: 24,026 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr3:127,317,310-127,340,616 Size: 23,307 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:127,317,254-127,341,279)mRNA (may differ from genome)Protein (904 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MCM2_HUMAN
DESCRIPTION: RecName: Full=DNA replication licensing factor MCM2; EC=3.6.4.12; AltName: Full=Minichromosome maintenance protein 2 homolog; AltName: Full=Nuclear protein BM28;
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.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6- MCM4-MCM7-MCM3-MCM5 (By simililarity). Interacts with DBF4 (By similarity). Interacts with KAT7. May interact with MCM10.
INTERACTION: P62805:HIST2H4B; NbExp=3; IntAct=EBI-374819, EBI-302023; P25205:MCM3; NbExp=4; IntAct=EBI-374819, EBI-355153; P33992:MCM5; NbExp=4; IntAct=EBI-374819, EBI-359410; Q14566:MCM6; NbExp=6; IntAct=EBI-374819, EBI-374900; P33993:MCM7; NbExp=5; IntAct=EBI-374819, EBI-355924;
SUBCELLULAR LOCATION: Nucleus.
PTM: 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.
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.
SIMILARITY: Belongs to the MCM family.
SIMILARITY: Contains 1 MCM domain.
SEQUENCE CAUTION: Sequence=BAA04642.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA12177.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA47749.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA47749.1; Type=Frameshift; Positions=115, 124, 127, 129, 154, 158, 773, 811;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mcm2/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MCM2
Diseases sorted by gene-association score: deafness, autosomal dominant 70* (1279), autosomal dominant non-syndromic sensorineural deafness type dfna* (82), cervix endometriosis (15), autosomal dominant nonsyndromic deafness (12), follicular adenoma (10), melanoacanthoma (8), actinic keratosis (7), barrett esophagus/esophageal adenocarcinoma (5), adenocarcinoma in situ (5), breast cancer (2), nonsyndromic deafness (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 57.47 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 187.50 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.5056-0.259 Picture PostScript Text
3' UTR -235.30663-0.355 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008045 - MCM_2
IPR018525 - MCM_CS
IPR001208 - MCM_DNA-dep_ATPase
IPR012340 - NA-bd_OB-fold
IPR016027 - NA-bd_OB-fold-like

Pfam Domains:
PF00493 - MCM P-loop domain
PF01078 - Magnesium chelatase, subunit ChlI
PF07726 - ATPase family associated with various cellular activities (AAA)
PF07728 - AAA domain (dynein-related subfamily)
PF12619 - Mini-chromosome maintenance protein 2
PF14551 - MCM N-terminal domain
PF17207 - MCM OB domain
PF17855 - MCM AAA-lid domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
50249 - Nucleic acid-binding proteins
52540 - P-loop containing nucleoside triphosphate hydrolases
57802 - Rubredoxin-like
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on P49736
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003677 DNA binding
GO:0003688 DNA replication origin binding
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0019899 enzyme binding
GO:0042393 histone binding
GO:0046872 metal ion binding

Biological Process:
GO:0000082 G1/S transition of mitotic cell cycle
GO:0006260 DNA replication
GO:0006268 DNA unwinding involved in DNA replication
GO:0006270 DNA replication initiation
GO:0006334 nucleosome assembly
GO:0006915 apoptotic process
GO:0007049 cell cycle
GO:0071353 cellular response to interleukin-4
GO:0090102 cochlea development
GO:1905775 negative regulation of DNA helicase activity

Cellular Component:
GO:0000784 nuclear chromosome, telomeric region
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005664 nuclear origin of replication recognition complex
GO:0005737 cytoplasm
GO:0015630 microtubule cytoskeleton
GO:0042555 MCM complex
GO:0005730 nucleolus


-  Descriptions from all associated GenBank mRNAs
  AK299934 - Homo sapiens cDNA FLJ55651 complete cds, highly similar to DNA replication licensing factor MCM2.
AK309335 - Homo sapiens cDNA, FLJ99376.
AK128291 - Homo sapiens cDNA FLJ46429 fis, clone THYMU3014372, highly similar to DNA replication licensing factor MCM2.
BC014272 - Homo sapiens minichromosome maintenance complex component 2, mRNA (cDNA clone MGC:10606 IMAGE:3938252), complete cds.
BC007670 - Homo sapiens minichromosome maintenance complex component 2, mRNA (cDNA clone MGC:2123 IMAGE:3143264), complete cds.
AK304204 - Homo sapiens cDNA FLJ53276 complete cds, moderately similar to DNA replication licensing factor MCM2.
BC017258 - Homo sapiens minichromosome maintenance complex component 2, mRNA (cDNA clone MGC:29681 IMAGE:3509667), complete cds.
D21063 - Homo sapiens KIAA0030 mRNA.
BC006165 - Homo sapiens minichromosome maintenance complex component 2, mRNA (cDNA clone MGC:13220 IMAGE:3959276), complete cds.
BC007938 - Homo sapiens minichromosome maintenance complex component 2, mRNA (cDNA clone MGC:14281 IMAGE:4131943), complete cds.
BC017490 - Homo sapiens minichromosome maintenance complex component 2, mRNA (cDNA clone MGC:16023 IMAGE:3607416), complete cds.
CU675751 - Synthetic construct Homo sapiens gateway clone IMAGE:100017834 5' read MCM2 mRNA.
CU677887 - Synthetic construct Homo sapiens gateway clone IMAGE:100023263 5' read MCM2 mRNA.
CU675871 - Synthetic construct Homo sapiens gateway clone IMAGE:100023265 5' read MCM2 mRNA.
AB463120 - Synthetic construct DNA, clone: pF1KA0030, Homo sapiens MCM2 gene for minichromosome maintenance complex component 2, without stop codon, in Flexi system.
KJ905827 - Synthetic construct Homo sapiens clone ccsbBroadEn_15497 MCM2 gene, encodes complete protein.
KJ891592 - Synthetic construct Homo sapiens clone ccsbBroadEn_00986 MCM2 gene, encodes complete protein.
KJ897174 - Synthetic construct Homo sapiens clone ccsbBroadEn_06568 MCM2 gene, encodes complete protein.
D83987 - Homo sapiens mRNA for DNA replication licensing factor (huMCM2), complete cds.
X67334 - H.sapiens BM28 mRNA.
BT009734 - Homo sapiens MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae) mRNA, complete cds.
BC012756 - Homo sapiens cDNA clone IMAGE:3629543, **** WARNING: chimeric clone ****.
BC030131 - Homo sapiens minichromosome maintenance complex component 2, mRNA (cDNA clone IMAGE:4125273), partial cds.
BC000300 - Homo sapiens minichromosome maintenance complex component 2, mRNA (cDNA clone IMAGE:2820211), partial cds.
JD088636 - Sequence 69660 from Patent EP1572962.
JD294687 - Sequence 275711 from Patent EP1572962.
JD183049 - Sequence 164073 from Patent EP1572962.
JD526870 - Sequence 507894 from Patent EP1572962.
JD562352 - Sequence 543376 from Patent EP1572962.
JD498373 - Sequence 479397 from Patent EP1572962.
JD429345 - Sequence 410369 from Patent EP1572962.
JD065315 - Sequence 46339 from Patent EP1572962.
JD490125 - Sequence 471149 from Patent EP1572962.
JD528360 - Sequence 509384 from Patent EP1572962.
JD375376 - Sequence 356400 from Patent EP1572962.
JD255045 - Sequence 236069 from Patent EP1572962.
JD269867 - Sequence 250891 from Patent EP1572962.
JD227524 - Sequence 208548 from Patent EP1572962.
JD051869 - Sequence 32893 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_mcmPathway - CDK Regulation of DNA Replication

Reactome (by CSHL, EBI, and GO)

Protein P49736 (Reactome details) participates in the following event(s):

R-HSA-69019 Mcm4,6,7 trimer forms and associates with the replication fork
R-HSA-68849 Mcm2-7 associates with the Cdt1:CDC6:ORC:origin complex, forming the pre-replicative complex (preRC)
R-HSA-68954 Mcm2-7 is phosphorylated by DDK
R-HSA-176942 Multiple proteins are localized at replication fork
R-HSA-68919 Mcm10 associates with the pre-replicative complex, stabilizing Mcm2-7
R-HSA-68944 Orc1 is phosphorylated by cyclin A/CDK2
R-HSA-169468 MCM2-7 mediated fork unwinding
R-HSA-68940 Cdt1 is displaced from the pre-replicative complex.
R-HSA-68918 CDK and DDK associate with the Mcm10:pre-replicative complex
R-HSA-68917 Cdc45 associates with the pre-replicative complex at the origin
R-HSA-68916 DNA Replication Factor A (RPA) associates with the pre-replicative complex at the origin
R-HSA-176318 Loading of claspin onto DNA during replication origin firing
R-HSA-176298 Activation of claspin
R-HSA-69052 Switching of origins to a post-replicative state
R-HSA-68867 Assembly of the pre-replicative complex
R-HSA-68962 Activation of the pre-replicative complex
R-HSA-176974 Unwinding of DNA
R-HSA-69239 Synthesis of DNA
R-HSA-68949 Orc1 removal from chromatin
R-HSA-69002 DNA Replication Pre-Initiation
R-HSA-69206 G1/S Transition
R-HSA-69190 DNA strand elongation
R-HSA-69242 S Phase
R-HSA-69306 DNA Replication
R-HSA-68874 M/G1 Transition
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle
R-HSA-176187 Activation of ATR in response to replication stress
R-HSA-69481 G2/M Checkpoints
R-HSA-69620 Cell Cycle Checkpoints

-  Other Names for This Gene
  Alternate Gene Symbols: BM28, CCNL1, CDCL1, ENST00000265056.1, ENST00000265056.10, ENST00000265056.11, ENST00000265056.2, ENST00000265056.3, ENST00000265056.4, ENST00000265056.5, ENST00000265056.6, ENST00000265056.7, ENST00000265056.8, ENST00000265056.9, KIAA0030, MCM2 , MCM2_HUMAN, NR_073375, P49736, Q14577, Q15023, Q8N2V1, Q969W7, Q96AE1, Q9BRM7, uc317hxz.1, uc317hxz.2
UCSC ID: ENST00000265056.12_5
RefSeq Accession: NM_004526.4
Protein: P49736 (aka MCM2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.