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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MCC Gene

protein-coding   GIFtS: 62
GCID: GC05M112388

Mutated In Colorectal Cancers

  See 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)
About This Section

Aliases
Mutated In Colorectal Cancers1 2
MCC12
Colorectal Mutant Cancer Protein2
Protein MCC3

External Ids:    HGNC: 69351   Entrez Gene: 41632   Ensembl: ENSG000001714447   OMIM: 1593505   UniProtKB: P235083   

Export aliases for MCC gene to outside databases

Previous GC identifers: GC05M111957 GC05M112808 GC05M112392 GC05M112437 GC05M112434 GC05M107537


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MCC Gene:
This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle
progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and
membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for MCC Gene: 
MCC (mutated in colorectal cancers) is a protein-coding gene. Diseases associated with MCC include nonpapillary renal cell carcinoma, and pleuropneumonia. GO annotations related to this gene include protein binding and receptor activity. An important paralog of this gene is USHBP1.

UniProtKB/Swiss-Prot: CRCM_HUMAN, P23508
Function: Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell
proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF
transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK)
activation

Gene Wiki entry for MCC 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MCC gene promoter:
         RP58   Sp1   Pax-5   HOXA3   AML1a   MEF-2A   aMEF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): MCC promoter sequence
   Search SABiosciences Chromatin IP Primers for MCC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCC


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

Entrez Gene cytogenetic band: 5q21   Ensembl cytogenetic band:  5q22.2   HGNC cytogenetic band: 5q21-q22

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M112388:  view genomic region     (about GC identifiers)

Start:
112,357,796 bp from pter      End:
112,824,527 bp from pter
Size:
466,732 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CRCM_HUMAN, P23508 (See protein sequence)
Recommended Name: Colorectal mutant cancer protein  
Size: 829 amino acids; 93027 Da
Subunit: Interacts with SCRIB, EZR, SNX27, SLC9A3R1 and SLC9A3R2. Interacts with CTNNB1; the interaction is
enhanced upon Wnt stimulation
Subcellular location: Cell membrane. Nucleus. Cytoplasm
Secondary accessions: D3DT05 Q6ZR04
Alternative splicing: 2 isoforms:  P23508-1   P23508-2   (Ref.5 (BAC87521) sequence is in conflict in position: 25:S->GSSSG)

Explore the universe of human proteins at neXtProt for MCC: NX_P23508

Explore proteomics data for MCC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P23508

  • MCC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MCC Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001078846.1  NP_002378.1  

    ENSEMBL proteins: 
     ENSP00000305617   ENSP00000421615   ENSP00000386227  

    Human Recombinant Protein Products for MCC: 
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    OriGene Purified Protein for MCC
    Browse OriGene Protein Over-expression Lysates
    OriGene MassSpec for MCC 
    OriGene Custom Protein Services for MCC
    GenScript Custom Purified and Recombinant Proteins Services for MCC
    Novus Biologicals MCC Proteins
    Novus Biologicals MCC Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MCC 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18591935
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA19555689

    MCC for ontologies           About GeneDecksing



    MCC Antibody Products: 
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    Novus Biologicals MCC Antibodies
    Abcam antibodies for MCC
    Cloud-Clone Corp. Antibodies for MCC 
    ThermoFisher Antibodies for MCC
    LSBio Antibodies in human, mouse, rat for MCC 

    Assay Products for MCC: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MCC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MCC 
    Cloud-Clone Corp. CLIAs for MCC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    1 InterPro protein domain:
     IPR019536 USH1C-bd_PDZ_domain

    Graphical View of Domain Structure for InterPro Entry P23508

    ProtoNet protein and cluster: P23508

    UniProtKB/Swiss-Prot: CRCM_HUMAN, P23508
    Similarity: Belongs to the MCC family


    MCC for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRCM_HUMAN, P23508
    Function: Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell
    proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF
    transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK)
    activation

         Genatlas biochemistry entry for MCC:
    mutated in colorectal cancer (see TSG5A)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004872receptor activity TAS1848370
    GO:0005509calcium ion binding ----
    GO:0005515protein binding IPI18591935
         
    MCC for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MCC:
     Upregulation of Wnt/beta-caten 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Mcc):
     normal 

    MCC for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MCC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MCC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MCC 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MCC 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MCC
    8/74 QIAGEN miScript miRNA Assays for microRNAs that regulate MCC (see all 74):
    hsa-miR-548j hsa-miR-300 hsa-miR-106a hsa-miR-3074-3p hsa-miR-519a hsa-miR-93 hsa-miR-548a-5p hsa-miR-200b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MCC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MCC

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MCC
    Sirion Biotech Customized adenovirus for overexpression of MCC

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MCC (see all 12)
    OriGene ORF clones in mouse, rat for MCC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MCC (NM_002387)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCC
    Sirion Biotech Customized lentivirus for stable overexpression of MCC 
                         Customized lentivirus expression plasmids for stable overexpression of MCC 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MCC
    Search LifeMap BioReagents cell lines for MCC
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCC


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MCC About                                                                                                See pathways by source

    SuperPathContained pathways About
    1TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway


    1 BioSystems Pathway for MCC
        TNF-alpha/NF-kB Signaling Pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MCC

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

    5/258 Interacting proteins for MCC (P235081, 2, 3 ENSP000003862274) via UniProtKB, MINT, STRING, and/or I2D (see all 258)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCRIBQ141602, 3, ENSP000003494864MINT-7210634 MINT-7210690 MINT-7210609 MINT-7210820 MINT-7211237 MINT-7211022 MINT-7210883 MINT-7210731 I2D: score=1 STRING: ENSP00000349486
    CSNK1EP496742, 3, ENSP000003529294MINT-8252780 I2D: score=3 STRING: ENSP00000352929
    EZRP153112, 3, ENSP000003389344MINT-7211237 I2D: score=2 STRING: ENSP00000338934
    NFKBIBQ156532, 3MINT-47859 I2D: score=4 
    DYNC1I1O145762, 3MINT-8254888 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS1848370
    GO:0010633negative regulation of epithelial cell migration IMP19555689
    GO:0016055Wnt receptor signaling pathway IEA--
    GO:0050680negative regulation of epithelial cell proliferation IDA18591935
    GO:0090090negative regulation of canonical Wnt receptor signaling pathway IDA18591935

    MCC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MCC (CRCM)

    Search CenterWatch for drugs/clinical trials and news about MCC / CRCM

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MCC gene (2 alternative transcripts): 
    NM_001085377.1  NM_002387.2  

    Unigene Cluster for MCC:

    Mutated in colorectal cancers
    Hs.593171  [show with all ESTs]
    Unigene Representative Sequence: NM_001085377
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302475(uc003kqj.4 uc003kqk.4 uc003kql.4) ENST00000514701(uc011cwb.1 uc010jcd.1)
    ENST00000515367 ENST00000408903 ENST00000502648 ENST00000505604 ENST00000506605
    ENST00000511847 ENST00000511242
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MCC
    8/74 QIAGEN miScript miRNA Assays for microRNAs that regulate MCC (see all 74):
    hsa-miR-548j hsa-miR-300 hsa-miR-106a hsa-miR-3074-3p hsa-miR-519a hsa-miR-93 hsa-miR-548a-5p hsa-miR-200b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MCC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MCC
    Clone
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    OriGene clones in human, mouse for MCC (see all 12)
    OriGene ORF clones in mouse, rat for MCC
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    GenScript: all cDNA clones in your preferred vector (see all 2): MCC (NM_002387)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCC
    Sirion Biotech Customized lentivirus for stable overexpression of MCC 
                         Customized lentivirus expression plasmids for stable overexpression of MCC 
    Primer
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    OriGene qPCR primer pairs and template standards for MCC
    OriGene qSTAR qPCR primer pairs in human, mouse for MCC
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat MCC
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCC
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCC

    Additional mRNA sequence: 

    AK096212.1 AK128596.1 AK300259.1 AL359558.1 BC009279.2 BC018919.2 BC043431.2 BX537952.1 
    CR749713.1 M62397.1 

    12 DOTS entries:

    DT.441438  DT.439205  DT.206787  DT.99936084  DT.101982227  DT.120847212  DT.40210745  DT.92419764 
    DT.437378  DT.120847111  DT.92426124  DT.100800143 

    24/155 AceView cDNA sequences (see all 155):

    BM665160 CF890841 CD515997 AW169982 AV661084 AA018666 CA337225 BM313537 
    CB305455 AV645527 AI073842 BM666451 BF061365 N20672 BE782863 BE251521 
    BX503916 BQ423407 CB051013 AA053715 N85260 AV645467 BX109864 BM560726 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MCC    About this scheme

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


    ECgene alternative splicing isoforms for MCC

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    MCC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Line H9 (WA09)
     
     Primitive Streak (Early Embryonic Tissues)
             Primitive streak-like cells ( Generation of endoderm cells and pancreatic progenitor...
     
     Ovary (Reproductive System)

    See MCC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MCC

    SOURCE GeneReport for Unigene cluster: Hs.593171

    UniProtKB/Swiss-Prot: CRCM_HUMAN, P23508
    Tissue specificity: Expressed in a variety of tissues

        SABiosciences Custom PCR Arrays for MCC
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCC
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCC

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for MCC gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcc1 , 5 mutated in colorectal cancers1, 5 88.02(n)1
    95.31(a)1
      18 (23.74 cM)5
    3289491  NM_001085373.11  NP_001078842.11 
     444250615 
    chicken
    (Gallus gallus)
    Aves MCC1 mutated in colorectal cancers 79.59(n)
    93.22(a)
      415603  XM_413971.3  XP_413971.3 
    lizard
    (Anolis carolinensis)
    Reptilia MCC6
    mutated in colorectal cancers
    79(a)
    1 ↔ 1
    GL343193.1(7084892-7333915)
    zebrafish
    (Danio rerio)
    Actinopterygii mcc1 mutated in colorectal cancers 76.36(n)
    85.01(a)
      100537329  XM_003198564.1  XP_003198612.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG344041 CG34404 44.27(n)
    31.49(a)
      41873  NM_142200.3  NP_650457.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MCC gene
    USHBP12  
    1 SIMAP similar gene for MCC using alignment to 2 protein entries:     CRCM_HUMAN (see all proteins):
    DKFZp686J1286

    MCC for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/11035 SNPs in MCC are shown (see all 11035)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0051454
    Colorectal cancer samples4--see VAR_0051452 A V mis40--------
    VAR_0051414
    A colorectal cancer sample4--see VAR_0051412 R L mis40--------
    VAR_0051434
    A colorectal cancer sample4--see VAR_0051432 S L mis40--------
    VAR_0051444
    Colorectal cancer samples4--see VAR_0051442 R Q mis40--------
    rs352690151,2,4
    C,FA colorectal cancer sample4 --112684714(-) CTCCCC/TTGGTA 4 P L mis13Minor allele frequency- T:0.01NA EU 5345
    VAR_0509054
    ----see VAR_0509052 K R mis40--------
    rs2010142051,2
    C--107539477(+) ACTTTC/TTTTAC 2 -- ut310--------
    rs24163001,2
    C,F,H--107543814(+) GCCATT/GTTTTT 2 -- int1 trp37Minor allele frequency- G:0.49NS EA NA 388
    rs751059051,2
    C--107543815(+) CCATTG/TTTTTT 2 -- int10--------
    rs1159534161,2
    C--107555128(+) CCGCGA/CCCCCC 2 -- int10--------

    HapMap Linkage Disequilibrium report for MCC (112357796 - 112607796 bp, first 250kb of MCC)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for MCC (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2666148CNV Deletion23128226
    esv2669481CNV Deletion23128226
    esv2730602CNV Deletion23290073
    esv2730603CNV Deletion23290073
    esv2660679CNV Deletion23128226
    esv2671074CNV Deletion23128226
    esv1419638CNV Insertion17803354
    esv1010186CNV Insertion20482838
    esv1680514CNV Insertion17803354
    esv1715529CNV Insertion17803354

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 159350    OMIM disorders: --

    17 diseases for MCC:    About MalaCards
    nonpapillary renal cell carcinoma    pleuropneumonia    colorectal cancer    merkel cell carcinoma
    familial adenomatous polyposis    pandas    renal cell carcinoma    atopic dermatitis
    esophageal cancer    dermatitis    esophagitis    pancreatic cancer
    colon cancer    gastric cancer    pancreatitis    lung cancer
    breast cancer

    1 disease from the University of Copenhagen DISEASES database for MCC:
    Merkel cell carcinoma

    MCC for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for MCC gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial adenomatous polyposis 76.4 4 1565631 (2), 1325652 (2)
    colorectal tumors 75.3 7 1848370 (2), 8626604 (2), 1651562 (1), 1682292 (1)
    colorectal carcinoma 52.5 3 1682292 (2), 1325652 (1)
    colorectal cancer 52.1 5 1848370 (1), 1668888 (1), 1682292 (1), 1339098 (1) (see all 5)
    nsclc 44.1 2 7812947 (1)
    colon cancer 33.3 4 1565631 (2), 1314630 (1), 11311560 (1)
    tumors 25.9 10 11311560 (2), 7796415 (1), 8226275 (1), 7812947 (1) (see all 8)
    cancer lung 21.9 2 1565631 (1), 1348017 (1)
    cancer 3.24 2 1565631 (2)

    Genetic Association Database (GAD): MCC
    Human Genome Epidemiology (HuGE) Navigator: MCC (9 documents)
    Tumor Gene Database (TGDB): MCC

    Export disorders for MCC 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)
    About This Section

    PubMed articles for MCC gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with MCC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. (PubMed id 1848370)1, 2, 3, 9 Kinzler K.W.... Nakamura Y. (1991)
    2. Genome-wide association study identifies genetic vari ants influencing F-cell levels in sickle-cell patients. (PubMed id 21326311)1, 4 Bhatnagar P....Keefer J.R. (2011)
    3. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    4. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. MCC, a new interacting protein for Scrib, is required for cell migration in epithelial cells. (PubMed id 19555689)1, 2 Arnaud C....Lecine P. (2009)
    7. Mutated in colorectal cancer, a putative tumor suppressor for serrated colorectal cancer, selectively represses beta-catenin- dependent transcription. (PubMed id 18591935)1, 2 Fukuyama R.... Sizemore N. (2008)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. (PubMed id 1651563)1, 2 Nishisho I....Hedge P. (1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4163 HGNC: 6935 AceView: MCC Ensembl:ENSG00000171444 euGenes: HUgn4163
    ECgene: MCC H-InvDB: MCC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MCC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MCC Genetics and Cytogenetics in Oncology and Haematology

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

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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