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MCM4 Gene

protein-coding   GIFtS: 68
GCID: GC08P048873

Minichromosome Maintenance Complex Component 4

(Previous name: MCM4 minichromosome maintenance deficient 4 (S. cerevisiae))
(Previous symbol: CDC21)
  See MCM4-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Minichromosome Maintenance Complex Component 41 2     CDC542
CDC211 2 3     DNA Replication Licensing Factor MCM42
P1-CDC212 3     hCdc212
CDC21 Homolog2 3     Homolog Of S. Pombe Cell Devision Cycle 212
NKCD2 5     Minichromosome Maintenance Deficient 42
NKGCD2 5     EC 3.6.4.123
MCM4 Minichromosome Maintenance Deficient 4 (S. Cerevisiae)1     

External Ids:    HGNC: 69471   Entrez Gene: 41732   Ensembl: ENSG000001047387   OMIM: 6026385   UniProtKB: P339913   

Export aliases for MCM4 gene to outside databases

Previous GC identifers: GC08P047965 GC08P048877 GC08P048596 GC08P048923 GC08P049036 GC08P044336


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MCM4 Gene:
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that
are essential for 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. The MCM complex consisting of
this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme.
The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the
MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a
DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript
variants encoding the same protein have been reported. (provided by RefSeq, Jul 2008)

GeneCards Summary for MCM4 Gene:
MCM4 (minichromosome maintenance complex component 4) is a protein-coding gene. Diseases associated with MCM4 include natural killer cell and glucocorticoid deficiency with dna repair defect. GO annotations related to this gene include ATP-dependent DNA helicase activity and single-stranded DNA binding. An important paralog of this gene is MCM8.

UniProtKB/Swiss-Prot: MCM4_HUMAN, P33991
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

Gene Wiki entry for MCM4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_008183.20  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCM4 gene promoter:
         Nkx3-1   C/EBPbeta   Nkx3-1 v4   p53   POU3F2 (N-Oct-5b)   Nkx3-1 v1   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCM4 promoter sequence
   Search Chromatin IP Primers for MCM4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCM4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q11.2   Ensembl cytogenetic band:  8q11.21   HGNC cytogenetic band: 8q12-q13

MCM4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCM4 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P048873:  view genomic region     (about GC identifiers)

Start:
48,872,745 bp from pter      End:
48,890,720 bp from pter
Size:
17,976 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MCM4_HUMAN, P33991 (See protein sequence)
Recommended Name: DNA replication licensing factor MCM4  
Size: 863 amino acids; 96558 Da
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 MCMBP
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
Secondary accessions: Q8NEH1 Q99658

Explore the universe of human proteins at neXtProt for MCM4: NX_P33991

Explore proteomics data for MCM4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys123, Lys163, Lys179, Lys216, Lys220, Lys349, Lys381, Lys439, Lys444, Lys450,
                                 Lys536, Lys600, Lys628, Lys752, Lys762, Lys770, Lys814, Lys819, Lys858
  • Modification sites at PhosphoSitePlus

  • See MCM4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005905.2  NP_877423.1  

    ENSEMBL proteins: 
     ENSP00000430329   ENSP00000430194   ENSP00000262105   ENSP00000427829   ENSP00000428833  
     ENSP00000427875   ENSP00000430864  
    Reactome Protein details: P33991

    MCM4 Human Recombinant Protein Products:

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    Novus Biologicals MCM4 Proteins
    Novus Biologicals MCM4 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MCM4

     
    Search eBioscience for Proteins for MCM4 

     
    antibodies-online proteins for MCM4 (4 products) 

     
    antibodies-online peptides for MCM4

    MCM4 Antibody Products:

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    antibodies-online antibodies for MCM4 (76 products) 

    MCM4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MCM4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MCM4
    Cloud-Clone Corp. CLIAs for MCM4
    Search eBioscience for ELISAs for MCM4 
    antibodies-online kits for MCM4 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR018525 MCM_CS
     IPR027925 MCM_N
     IPR012340 NA-bd_OB-fold
     IPR004039 Rubredoxin-type_fold
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P33991

    ProtoNet protein and cluster: P33991

    2 Blocks protein domains:
    IPB001208 MCM family
    IPB008047 Mini-chromosome maintenance (MCM) protein 4 signature


    UniProtKB/Swiss-Prot: MCM4_HUMAN, P33991
    Similarity: Belongs to the MCM family
    Similarity: Contains 1 MCM domain


    Find genes that share domains with MCM4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MCM4_HUMAN, P33991
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for MCM4:
    cell division cycle 21(CDC21) homolog,involved in an early step of DNA replication,participating in the cell cycle
    control of genome duplication

         Enzyme Number (IUBMB): EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003678DNA helicase activity ----
    GO:0003697single-stranded DNA binding IEA--
    GO:0004003contributes to ATP-dependent DNA helicase activity IDA9305914
    GO:0005515protein binding IPI12364596
         
    Find genes that share ontologies with MCM4           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mcm4):
     cellular  digestive/alimentary  embryogenesis  growth/size/body  hematopoietic system 
     immune system  mortality/aging  normal  tumorigenesis 

    Find genes that share phenotypes with MCM4           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MCM4

    miRNA
    Products:
        
    miRTarBase miRNAs that target MCM4:
    hsa-mir-34a-5p (MIRT025322), hsa-mir-1 (MIRT023946), hsa-mir-183-5p (MIRT047147), hsa-let-7b-5p (MIRT052176), hsa-mir-501-3p (MIRT037991), hsa-mir-31-3p (MIRT038934), hsa-mir-320a (MIRT044489), hsa-mir-193b-3p (MIRT016612), hsa-mir-24-3p (MIRT030629), hsa-mir-324-3p (MIRT042917)

    Block miRNA regulation of human, mouse, rat MCM4 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MCM4:
    hsa-miR-651 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidMCM4 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat MCM4

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): MCM4 (NM_005914)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCM4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCM4

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MCM4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCM4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MCM4_HUMAN, P33991: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS8265339
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0042555MCM complex IDA17296731

    Find genes that share ontologies with MCM4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MCM4 About   (see all 13)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Activation of the pre-replicative complex
    Activation of the pre-replicative complex0.66
    Cell cycle Start of DNA replication in early S phase0.53
    DNA Replication0.66
    2DNA strand elongation
    DNA strand elongation0.63
    Unwinding of DNA0.00
    DNA replication0.63
    3E2F mediated regulation of DNA replication
    Mitotic G1-G1/S phases0.81
    G1 to S cell cycle control0.35
    G1/S Transition0.81
    4Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    5CDK-mediated phosphorylation and removal of Cdc6
    Switching of origins to a post-replicative state0.93
    Removal of licensing factors from origins0.86
    Orc1 removal from chromatin0.93
    M/G1 Transition0.81
    Regulation of DNA replication0.93
    DNA Replication Pre-Initiation0.81
    Synthesis of DNA0.92
    S Phase0.78


    Find genes that share SuperPaths with MCM4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for MCM4
        Cell Cycle Control of Chromosomal Replication

    1 Cell Signaling Technology (CST) Pathway for MCM4
        Cell Cycle / Checkpoint Control

    1 GeneGo (Thomson Reuters) Pathway for MCM4
        Cell cycle Start of DNA replication in early S phase

    Selected BioSystems Pathways for MCM4 (see all 6)
        Cell cycle
    G1 to S cell cycle control
    Gastric cancer network 1
    DNA Replication
    RB in Cancer

    Selected Reactome Pathways for MCM4 (see all 7)
        Assembly of the pre-replicative complex
    Unwinding of DNA
    Switching of origins to a post-replicative state
    Activation of ATR in response to replication stress
    Activation of the pre-replicative complex


    2 Kegg Pathways  (Kegg details for MCM4):
        DNA replication
    Cell cycle

        Pathway & Disease-focused RT2 Profiler PCR Array including MCM4: 
              Cell Cycle in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MCM4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MCM4 (P339911, 2, 3 ENSP000002621054) via UniProtKB, MINT, STRING, and/or I2D (see all 398)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=3 STRING: ENSP00000352980
    HIST1H4HP628053, ENSP000002893524I2D: score=3 STRING: ENSP00000289352
    HIST1H4LP628053, ENSP000003482584I2D: score=3 STRING: ENSP00000348258
    HIST1H4FP628053, ENSP000003669744I2D: score=3 STRING: ENSP00000366974
    HIST1H4BP628053I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006260DNA replication TAS--
    GO:0006268DNA unwinding involved in DNA replication IEA--
    GO:0006270DNA replication initiation IEA--

    Find genes that share ontologies with MCM4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MCM4

    1 Novoseek inferred chemical compound relationship for MCM4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxyurea 52.1 4 15037254 (2), 17062569 (1)



    Find genes that share compounds with MCM4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MCM4 gene (2 alternative transcripts): 
    NM_005914.3  NM_182746.2  

    Unigene Cluster for MCM4:

    Minichromosome maintenance complex component 4
    Hs.460184  [show with all ESTs]
    Unigene Representative Sequence: NM_005914
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000518221 ENST00000523944(uc010lxw.2 uc003xqk.2 uc011ldi.2)
    ENST00000262105(uc003xql.2) ENST00000520994 ENST00000520934 ENST00000524086
    ENST00000519170 ENST00000519138 ENST00000520637 ENST00000518680 ENST00000517709
    ENST00000519470 ENST00000523853 ENST00000518382 ENST00000521261 ENST00000521151

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate MCM4:
    hsa-miR-651 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidMCM4 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): MCM4 (NM_005914)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MCM4
      QuantiTect SYBR Green Assays in human, mouse, rat MCM4
      QuantiFast Probe-based Assays in human, mouse, rat MCM4

    Additional mRNA sequence: 

    AK022899.1 AK296913.1 AK309812.1 AM493756.1 BC031061.1 X74794.1 

    Selected DOTS entries (see all 31):

    DT.101985052  DT.101985053  DT.101969207  DT.92452784  DT.418116  DT.91831407  DT.101964477  DT.92452786 
    DT.100793310  DT.100793311  DT.100793307  DT.101978428  DT.408996  DT.120635156  DT.120635241  DT.65286115 
    DT.97855210  DT.100793312  DT.102831993  DT.102831995  DT.95267949  DT.97855208  DT.100648381  DT.100793314 

    Selected AceView cDNA sequences (see all 494):

    AW236412 NM_005914 AU131979 BQ962733 AI392703 AU129473 BE256197 AI274297 
    AI936566 BE796484 BE740475 BG761812 NM_182746 AU131348 BQ683007 AU131502 
    BM909380 BQ878671 BQ687458 BQ680471 BQ058022 AW295770 BU149764 BG029854 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MCM4 (see all 13)    About this scheme

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

    ExUns: 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b
    SP1:        -                 -                                       
    SP2:        -                 -                                       
    SP3:                                                                  
    SP4:                                                                  
    SP5:        -     -           -                                       


    ECgene alternative splicing isoforms for MCM4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MCM4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTGGCTGC
    MCM4 Expression
    About this image


    MCM4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    MCM4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MCM4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460184
        Pathway & Disease-focused RT2 Profiler PCR Array including MCM4: 
              Cell Cycle in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MCM4 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcm41 , 5 minichromosome maintenance deficient 4 homolog (S. more1, 5 88.09(n)1
    95.01(a)1
      16 (10.09 cM)5
    172171  NM_008565.31  NP_032591.31 
     156238975 
    chicken
    (Gallus gallus)
    Aves MCM41 minichromosome maintenance complex component 4 77.3(n)
    86.73(a)
      426764  XM_424376.4  XP_424376.2 
    lizard
    (Anolis carolinensis)
    Reptilia MCM46
    minichromosome maintenance complex component 4
    84(a)
    1 ↔ 1
    GL343207.1(1525837-1549259)
    African clawed frog
    (Xenopus laevis)
    Amphibia mcm4-A2 minichromosome maintenance deficient 4 77.61(n)    U44049.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mcm42 MCM4 minichromosome maintenance deficient 4, mitotin more 74.85(n)   337598  BC056514.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dpa1 , 3 pre-replicative complex formation and
    maintenance more3
    disc proliferation abnormal1
    61(a)3
    60.1(n)1
    64.61(a)1
      356791  NM_057837.51  NP_477185.11 
    worm
    (Caenorhabditis elegans)
    Secernentea mcm-41 , 3 mcm-41 53(a)3
    55.53(n)1
    56.65(a)1
      I(2318428-2321811)3
    1717931  NM_058561.51  NP_490962.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MCM4(YPR019W)4
    MCM41
    Essential helicase component of heterohexameric MCM2-7 more4
    MCM41
    52.31(n)1
    50.14(a)1
      16(596750-599551)4
    8561301, 4  NP_015344.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MCM41 MCM4 53.31(n)
    47.11(a)
      816142  NM_127197.4  NP_179236.3 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.32742 Transcribed sequence with weak similarity to protein more 75.11(n)    BQ459696.1 


    ENSEMBL Gene Tree for MCM4 (if available)
    TreeFam Gene Tree for MCM4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MCM4 gene
    MCM82  
    4 SIMAP similar genes for MCM4 using alignment to 7 protein entries:     MCM4_HUMAN (see all proteins):
    MCM3    MCM7    MCM5    MCM2

    Find genes that share paralogs with MCM4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MCM4 (see all 464)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1818307621,2
    C--48874810(+) TATGGC/TGGGTA 2 -- int11Minor allele frequency- T:0.00EU 1309
    rs119933621,2
    C,F,H--48874811(+) ATGGCG/CGGTAT 2 -- int120Minor allele frequency- C:0.05NA NS EA CSA WA 1962
    rs1860302871,2
    --48874846(+) ATTCTA/GTCATG 2 -- int10--------
    rs342060691,2
    C,F--48874952(+) CATGCA/GAAGAA 4 K E mis13Minor allele frequency- G:0.00NA EU 5949
    rs1915723141,2
    C--48875061(+) TAGAAC/GGGCCA 2 -- int10--------
    rs1490014051,2
    --48875214(+) AAAATA/GTTATT 2 -- int10--------
    rs172875551,2
    C--48875291(+) ATGCTA/GTATGC 2 -- int11Minor allele frequency- G:0.01NS 180
    rs1878410201,2
    C--48875348(+) TTGACC/TCTCTG 4 P S mis10--------
    rs1454173361,2
    F--48875387(+) ATATTA/CCTGAA 4 T P mis11Minor allele frequency- C:0.00NA 4508
    rs2017546091,2
    --48875449(+) AGTTAC/TGTGTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for MCM4 (48872745 - 48890720 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MCM4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831309CNV Loss17160897
    dgv2234e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): MCM4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MCM4
    DNA2.0 Custom Variant and Variant Library Synthesis for MCM4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602638   
    OMIM disorders: 609981  
    UniProtKB/Swiss-Prot: MCM4_HUMAN, P33991
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect (NKGCD) [MIM:609981]: An
    autosomal recessive disorder characterized by severe intra- and extrauterine growth retardation, microcephaly,
    decreased numbers of natural killer cells, and recurrent viral infections, most often affecting the respiratory
    tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring
    corticosteroid replacement therapy and may have an increased susceptibility to cancer. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 1 disease for MCM4:    
    About MalaCards
    natural killer cell and glucocorticoid deficiency with dna repair defect


    Find genes that share disorders with MCM4           About GenesLikeMe

    2 Novoseek inferred disease relationships for MCM4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastasis 0 1 17222376 (1)
    tumors 0 5 16595783 (1), 16051427 (1), 20398247 (1)

    Genetic Association Database (GAD): MCM4
    Human Genome Epidemiology (HuGE) Navigator: MCM4 (4 documents)

    Export disorders for MCM4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MCM4 gene, integrated from 10 sources (see all 137):
    (articles sorted by number of sources associating them with MCM4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homologue of the yeast replication protein Cdc21. Interactions with other Mcm proteins. (PubMed id 7601140)1, 2, 3, 9 Musahl C.... Knippers R. (Eur. J. Biochem. 1995)
    2. The promoters for human DNA-PKcs (PRKDC) and MCM4: divergently transcribed genes located at chromosome 8 band q11. (PubMed id 9465298)1, 2, 9 Connelly M.A.... Anderson C.W. (Genomics 1998)
    3. MCM4 and PRKDC, human genes encoding proteins MCM4 and DNA-PKcs, are close neighbours located on chromosome 8q12-->q13. (PubMed id 9284934)1, 2, 9 Ladenburger E.M.... Knippers R. (Cytogenet. Cell Genet. 1997)
    4. Identification and characterization of a novel component of the human minichromosome maintenance complex. (PubMed id 17296731)1, 2, 9 Sakwe A.M.... Frappier L. (Mol. Cell. Biol. 2007)
    5. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. (PubMed id 22354170)1, 2 Hughes C.R.... Metherell L.A. (J. Clin. Invest. 2012)
    6. Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. (PubMed id 22354167)1, 2 Gineau L.... Jouanguy E. (J. Clin. Invest. 2012)
    7. Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair. (PubMed id 22499342)1, 2 Casey J.P.... Ennis S. (J. Med. Genet. 2012)
    8. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (Breast Cancer Res. Treat. 2011)
    9. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    10. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4173 HGNC: 6947 AceView: MCM4 Ensembl:ENSG00000104738 euGenes: HUgn4173
    ECgene: MCM4 Kegg: 4173 H-InvDB: MCM4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MCM4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MCM4 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mcm4/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MCM4 gene:
    Search GeneIP for patents involving MCM4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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