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MCM6 Gene

protein-coding   GIFtS: 69
GCID: GC02M136597

Minichromosome Maintenance Complex Component 6

(Previous names: minichromosome maintenance deficient (mis5, S. pombe) 6,...)
  See MCM6-related diseases
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 61 2     Mis52
Minichromosome Maintenance Deficient (Mis5, S. Pombe) 61 2     P105MCM2
MCM6 Minichromosome Maintenance Deficient 6 (MIS5 Homolog, S. Pombe) (S.
Cerevisiae)1
     DNA Replication Licensing Factor MCM62
Minichromosome Maintenance Deficient 6 Homolog (S. Cerevisiae)1     MCM6 Minichromosome Maintenance Deficient 6 (MIS5 Homolog, S. Pombe)2
MIS5 Homolog (S.Pombe)1     EC 3.6.4.123
MCG403082     p105MCM3

External Ids:    HGNC: 69491   Entrez Gene: 41752   Ensembl: ENSG000000760037   OMIM: 6018065   UniProtKB: Q145663   

Export aliases for MCM6 gene to outside databases

Previous GC identifers: GC02M134252 GC02M134894 GC02M136619 GC02M136807 GC02M136430 GC02M136313 GC02M128590


(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 MCM6 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 the
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, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme.
The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the
regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated
with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby,
influence lactose intolerance in early adulthood. (provided by RefSeq, May 2012)

GeneCards Summary for MCM6 Gene:
MCM6 (minichromosome maintenance complex component 6) is a protein-coding gene. Diseases associated with MCM6 include lactose intolerance, adult type, and lactase persistance/nonpersistance. GO annotations related to this gene include ATP-dependent DNA helicase activity and identical protein binding.

UniProtKB/Swiss-Prot: MCM6_HUMAN, Q14566
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 MCM6 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_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCM6 gene promoter:
         HTF   Pax-2   Pax-2a   Tal-1beta   C/EBPalpha   Max   FAC1   ITF-2   ATF6   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCM6 promoter sequence
   Search Chromatin IP Primers for MCM6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCM6


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

Entrez Gene cytogenetic band: 2q21   Ensembl cytogenetic band:  2q21.3   HGNC cytogenetic band: 2q14-q21

MCM6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCM6 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M136597:  view genomic region     (about GC identifiers)

Start:
136,597,196 bp from pter      End:
136,634,011 bp from pter
Size:
36,816 bases      Orientation:
minus 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MCM6_HUMAN, Q14566 (See protein sequence)
Recommended Name: DNA replication licensing factor MCM6  
Size: 821 amino acids; 92889 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). May interact with MCM10. Interacts with TIPIN. Interacts
with CDT1. 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
2 PDB 3D structures from and Proteopedia for MCM6:
2KLQ (3D)        2LE8 (3D)    
Secondary accessions: B2R6H2 Q13504 Q99859

Explore the universe of human proteins at neXtProt for MCM6: NX_Q14566

Explore proteomics data for MCM6 at MOPED

Post-translational modifications: 

  • O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner1
  • Ubiquitination2 at Lys108, Lys197, Lys205, Lys332, Lys407, Lys422, Lys486, Lys490, Lys517, Lys588,
                                 Lys599, Lys611, Lys643, Lys654, Lys744, Lys775
  • Modification sites at PhosphoSitePlus

  • See MCM6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005906.2  
    ENSEMBL proteins: 
     ENSP00000264156  
    Reactome Protein details: Q14566

    MCM6 Human Recombinant Protein Products:

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    Novus Biologicals MCM6 Lysates
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    Cloud-Clone Corp. Proteins for MCM6

     
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    antibodies-online proteins for MCM6 (4 products) 

     
    antibodies-online peptides for MCM6

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    antibodies-online antibodies for MCM6 (41 products) 

    MCM6 Assay Products:

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    antibodies-online kits for MCM6 (8 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 7):
     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 Q14566

    ProtoNet protein and cluster: Q14566

    2 Blocks protein domains:
    IPB001208 MCM family
    IPB008049 Mini-chromosome maintenance (MCM) protein 6 signature


    UniProtKB/Swiss-Prot: MCM6_HUMAN, Q14566
    Similarity: Belongs to the MCM family
    Similarity: Contains 1 MCM domain


    Find genes that share domains with MCM6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: MCM6_HUMAN, Q14566
    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 MCM6:
    cell division cycle,early S-phase-like-6,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 IPI11095689
         
    Find genes that share ontologies with MCM6           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for MCM6:
     Decreased viability of wild-ty  Increased cell death in HCT116  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mcm6):
     cellular  growth/size/body  hematopoietic system  mortality/aging  tumorigenesis 

    Find genes that share phenotypes with MCM6           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MCM6
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    miRNA
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    miRTarBase miRNAs that target MCM6:
    hsa-mir-215-5p (MIRT024879), hsa-mir-34a-5p (MIRT025545), hsa-mir-193b-3p (MIRT016611), hsa-mir-1 (MIRT024027), hsa-mir-1180-3p (MIRT035931), hsa-mir-192-5p (MIRT026808)

    Block miRNA regulation of human, mouse, rat MCM6 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MCM6:
    hsa-miR-4282 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidMCM6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MCM6

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    (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
    MCM6_HUMAN, Q14566: Nucleus. Note=Binds to chromatin during G1 and detach from it during S phase
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS9286856
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0042555MCM complex IDA17296731

    Find genes that share ontologies with MCM6           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 MCM6 About   (see all 10)  
    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 MCM6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for MCM6
        Cell Cycle Control of Chromosomal Replication

    1 GeneGo (Thomson Reuters) Pathway for MCM6
        Cell cycle Start of DNA replication in early S phase

    4 BioSystems Pathways for MCM6
        Cell cycle
    G1 to S cell cycle control
    DNA Replication
    RB in Cancer


    Selected Reactome Pathways for MCM6 (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 MCM6):
        DNA replication
    Cell cycle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MCM6: 
              Nephrotoxicity in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MCM6

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

    Selected Interacting proteins for MCM6 (Q145661, 2, 3 ENSP000002641564) via UniProtKB, MINT, STRING, and/or I2D (see all 269)
    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 MCM6           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 MCM6

    1 HMDB Compound for MCM6    About this table
    CompoundSynonyms CAS #PubMed Ids
    AtorvastatinAtorvastatin acid (see all 4)134523-00-5--

    1 Novoseek inferred chemical compound relationship for MCM6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 4.68 2 11854416 (1), 16369567 (1)



    Find genes that share compounds with MCM6           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 MCM6 gene: 
    NM_005915.5  

    Unigene Cluster for MCM6:

    Minichromosome maintenance complex component 6
    Hs.444118  [show with all ESTs]
    Unigene Representative Sequence: NM_005915
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264156(uc002tuw.3) ENST00000492091 ENST00000483902
    miRNA
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    hsa-miR-4282 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidMCM6 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK299236.1 AK303455.1 AK312575.1 BC008774.1 BC020268.1 BC032374.1 D84557.1 U46838.1 

    14 DOTS entries:

    DT.101981070  DT.317585  DT.121025165  DT.92448645  DT.100671764  DT.102712  DT.121025168  DT.317584 
    DT.40216061  DT.92029959  DT.95162135  DT.95162137  DT.95338893  DT.95162140 

    Selected AceView cDNA sequences (see all 309):

    BQ673937 BM461535 AU125495 BM013848 AW518072 CB126015 BC008774 BM835338 
    BQ302962 BG114203 CA419174 AA716638 BU180371 AI744803 BM694541 AA132164 
    BQ424418 BE385730 CB126777 BU181929 BU146898 W57982 AA173308 AA577398 

    GeneLoc Exon Structure


    (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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    MCM6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MCM6 Expression
    About this image


    MCM6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
    MCM6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MCM6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444118
        Pathway & Disease-focused RT2 Profiler PCR Arrays including MCM6: 
              Nephrotoxicity in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCM6

    (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)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MCM6 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcm61 , 5 minichromosome maintenance deficient 6 (MIS5 homolog, more1, 5 88.31(n)1
    95.86(a)1
      1 (55.80 cM)5
    172191  NM_008567.11  NP_032593.11 
     1283315915 
    chicken
    (Gallus gallus)
    Aves MCM61 minichromosome maintenance complex component 6 79.52(n)
    88.21(a)
      424295  NM_001006527.1  NP_001006527.1 
    lizard
    (Anolis carolinensis)
    Reptilia MCM66
    minichromosome maintenance complex component 6
    85(a)
    1 ↔ 1
    1(96763400-96784612)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF031139.12   -- 76.18(n)    AF031139.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CA975689.12   -- 74.21(n)    CA975689.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mcm61 , 3 oogenesis chromatin binding3
    Minichromosome maintenance 61
    62(a)3
    60.94(n)1
    64.62(a)1
      316031  NM_078510.21  NP_511065.11 
    worm
    (Caenorhabditis elegans)
    Secernentea mcm-66
    Protein MCM-6, isoform a
    56(a)
    1 ↔ 1
    III(9794367-9798645) WBGene00003158
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MCM6(YGL201C)4 Protein involved in DNA replication; component of the more   --   7(120907-117854) 852673  NP_011314.2 
    rice
    (Oryza sativa)
    Liliopsida AK065677.12   -- 72.94(n)    AK065677.1 


    ENSEMBL Gene Tree for MCM6 (if available)
    TreeFam Gene Tree for MCM6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MCM6 gene
    4 SIMAP similar genes for MCM6 using alignment to 3 protein entries:     MCM6_HUMAN (see all proteins):
    MCM7    FLJ00323    MCM2    MCM5

    Find genes that share paralogs with MCM6           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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    MCM6_HUMAN, Q14566: Intronic variations in MCM6 upstream from the LCT gene are associated with adult-type hypolactasia
    [MIM:223100] leading to lactose intolerance, or with lactase persistance. Lactose intolerance is a normal
    physiological phenomenon caused by developmental down-regulation of lactase activity during childhood or early
    adulthood. A non-coding variation in MCM6 affects the transcriptional regulation of the LCT gene resulting in
    down-regulation of lactase activity. However, the majority of Northern Europeans and some African populations
    have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence)


    Selected SNPs for MCM6 (see all 926)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1912624231,2
    --128590018(+) TTGCCA/GCCCAA 1 -- int10--------
    rs1131987051,2
    C,F--128590073(+) TCTTGA/GGTTCA 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs67422831,2
    C--128590104(+) CTCCTG/AAGTAG 1 -- int12Minor allele frequency- A:0.25NA WA 4
    rs1493191511,2
    C--128590258(+) CAGGC-/GTGTGAG 1 -- int10--------
    rs1831232991,2
    --128590341(+) TACTAC/TGTCAG 1 -- int10--------
    rs1869087041,2
    --128590342(+) ACTACA/GTCAGC 1 -- int10--------
    rs49882891,2
    C,F--128590388(-) TAAGAAGA/-CTGGT 1 -- int11Minor allele frequency- -:0.07NS 164
    rs49882881,2
    C,F,H--128590445(-) GGCAAA/GCATTA 1 -- ut316Minor allele frequency- G:0.05NS WA 1062
    rs49882871,2
    C,F,A,H--128590460(-) ATTTTA/TAAAAT 1 -- ut314Minor allele frequency- T:0.09NS NA WA 276
    rs1917395841,2
    --128590492(+) GAGTAC/GATTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MCM6 (136597196 - 136634011 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MCM6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2032582CNV Deletion18987734
    esv2720865CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MCM6
    DNA2.0 Custom Variant and Variant Library Synthesis for MCM6

    (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: 601806   
    OMIM disorders: 223100  
    4 diseases for MCM6:    
    About MalaCards
    lactose intolerance, adult type    lactase persistance/nonpersistance    lactose intolerance    enchondroma

    2 diseases from the University of Copenhagen DISEASES database for MCM6:
    Craniopharyngioma     Lactose intolerance

    Find genes that share disorders with MCM6           About GenesLikeMe

    3 Novoseek inferred disease relationships for MCM6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    craniopharyngioma 58.8 8 17294730 (4), 17410335 (1)
    retinoblastoma 24.4 1 12677008 (1)
    tumors 7.2 11 17410335 (4), 15539383 (2), 17294730 (1)

    Genetic Association Database (GAD): MCM6
    Human Genome Epidemiology (HuGE) Navigator: MCM6 (7 documents)

    Export disorders for MCM6 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 MCM6 gene, integrated from 10 sources (see all 137):
    (articles sorted by number of sources associating them with MCM6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human protein MCM6 on HeLa cell chromatin. (PubMed id 9516426)1, 2, 9 Holthoff H.P.... Knippers R. (J. Biol. Chem. 1998)
    2. Characterisation of a human homologue of a yeast cell division cycle gene, MCM6, located adjacent to the 5' end of the lactase gene on chromosome 2q21. (PubMed id 8977093)1, 2, 9 Harvey C.B....Swallow D.M. (FEBS Lett. 1996)
    3. Multiple rare variants as a cause of a common phenotype: several different lactase persistence associated alleles in a single ethnic group. (PubMed id 19937006)1, 4, 9 Ingram C.J....Swallow D.M. (J. Mol. Evol. 2009)
    4. 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)
    5. Can lactase persistence genotype be used to reassess the relationship between renal cell carcinoma and milk drinking? Potentials and problems in the application of Mendelian randomization. (PubMed id 20447925)1, 4 Timpson N.J....Smith G.D. (amp 2010)
    6. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)
    7. Characterization and structure determination of the Cdt1 binding domain of human minichromosome maintenance (Mcm) 6. (PubMed id 20202939)1, 2 Wei Z.... Zhu G. (J. Biol. Chem. 2010)
    8. Lactase persistence-related genetic variant: population substructure and health outcomes. (PubMed id 18797476)1, 4 Smith G.D....Ebrahim S. (Eur. J. Hum. Genet. 2009)
    9. Identification and characterization of a novel component of the human minichromosome maintenance complex. (PubMed id 17296731)1, 2 Sakwe A.M.... Frappier L. (Mol. Cell. Biol. 2007)
    10. Convergent adaptation of human lactase persistence in Africa and Europe. (PubMed id 17159977)1, 2 Tishkoff S.A.... Deloukas P. (Nat. Genet. 2007)

    (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: 4175 HGNC: 6949 AceView: MCM6 Ensembl:ENSG00000076003 euGenes: HUgn4175
    ECgene: MCM6 Kegg: 4175 H-InvDB: MCM6

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for MCM6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MCM6 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mcm6/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MCM6 gene:
    Search GeneIP for patents involving MCM6

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



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