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MAD2L2 Gene

protein-coding   GIFtS: 64
GCID: GC01M011734

MAD2 Mitotic Arrest Deficient-Like 2 (Yeast)

(Previous names: MAD2 (mitotic arrest deficient, yeast, homolog)-like 2)
  Search for MAD2L2
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
MAD2 Mitotic Arrest Deficient-Like 2 (Yeast)1 2     REV7 Homolog2 3
MAD2B2 3 5     Accessory Subunit1
MAD2 (Mitotic Arrest Deficient, Yeast, Homolog)-Like 21 2     Polymerase (DNA-Directed)1
Mitotic Arrest Deficient Homolog-Like 21 2     Zeta 21
Mitotic Arrest Deficient 2-Like Protein 22 3     POLZ22
REV72 3     Mitotic Spindle Assembly Checkpoint Protein MAD2B2
hREV72 3     Polymerase (DNA-Directed), Zeta 2, Accessory Subunit2
MAD2-Like Protein 22 3     

External Ids:    HGNC: 67641   Entrez Gene: 104592   Ensembl: ENSG000001166707   OMIM: 6040945   UniProtKB: Q9UI953   

Export aliases for MAD2L2 gene to outside databases

Previous GC identifers: GC01M011695 GC01M011578 GC01M011343 GC01M011444 GC01M011668 GC01M010888


(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 MAD2L2 Gene:
The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset
of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is
similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. (provided by RefSeq,
Jul 2008)

GeneCards Summary for MAD2L2 Gene:
MAD2L2 (MAD2 mitotic arrest deficient-like 2 (yeast)) is a protein-coding gene. GO annotations related to this gene include JUN kinase binding and RNA polymerase II activating transcription factor binding.

UniProtKB/Swiss-Prot: MD2L2_HUMAN, Q9UI95
Function: Adapter protein able to interact with different proteins and involved in different biological processes.
Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter
polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis. Translesion DNA
synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. May
also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated
phosphorylation and activation of the transcriptional activator ELK1. Inhibits the FZR1- and probably
CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell
cycle. Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal
transdifferentiation

Gene Wiki entry for MAD2L2 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_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAD2L2 gene promoter:
         Bach1   AP-1   ATF-2   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MAD2L2 promoter sequence
   Search Chromatin IP Primers for MAD2L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAD2L2


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

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36

MAD2L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAD2L2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M011734:  view genomic region     (about GC identifiers)

Start:
11,734,537 bp from pter      End:
11,751,707 bp from pter
Size:
17,171 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MD2L2_HUMAN, Q9UI95 (See protein sequence)
Recommended Name: Mitotic spindle assembly checkpoint protein MAD2B  
Size: 211 amino acids; 24334 Da
Subunit: Homooligomer (Probable). Interacts with REV1. Interacts with ADAM9. Interacts with CHAMP1. Interacts with
REV3L. Interacts with FZR1 (in complex with the anaphase promoting complex APC). Interacts with CDC20;
PubMed:11459825 could not detect the interaction. Interacts with RAN. Interacts with ELK1; the interaction is
direct and recruits MAD2L2 to ELK1-specific promoters. May interact with the JNK kinases MAPK8 and/or MAPK9 to
stimulate ELK1 phosphorylation and transcriptional activity upon DNA damage. Interacts with TCF7L2; prevents its
binding to promoters and negatively modulates its transcriptional activity. Interacts with YY1AP1. Interacts with
S.flexneri protein ipaB; prevents the interaction of MAD2L2 with FZR1 and CDC20 resulting in an activation of the
anaphase-promoting complex APC and a cell cycle arrest. Interacts with PRCC; the interaction is direct. Interacts
with POGZ
6 PDB 3D structures from and Proteopedia for MAD2L2:
3ABD (3D)        3ABE (3D)        3VU7 (3D)        4EXT (3D)        4GK0 (3D)        4GK5 (3D)    
Secondary accessions: B3KNE3 Q5TGW7 Q9UNA7 Q9Y6I6

Explore the universe of human proteins at neXtProt for MAD2L2: NX_Q9UI95

Explore proteomics data for MAD2L2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys90, Lys190
  • Modification sites at PhosphoSitePlus

  • See MAD2L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001120797.1  NP_006332.3  

    ENSEMBL proteins: 
     ENSP00000235310   ENSP00000365860   ENSP00000365857   ENSP00000365855   ENSP00000411807  
     ENSP00000400982   ENSP00000365882  
    Reactome Protein details: Q9UI95

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    POL: DNA polymerases

    1 InterPro protein domain:
     IPR003511 HORMA_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q9UI95

    ProtoNet protein and cluster: Q9UI95

    1 Blocks protein domain: IPB003511 DNA-binding HORMA

    UniProtKB/Swiss-Prot: MD2L2_HUMAN, Q9UI95
    Similarity: Contains 1 HORMA domain


    Find genes that share domains with MAD2L2           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: MD2L2_HUMAN, Q9UI95
    Function: Adapter protein able to interact with different proteins and involved in different biological processes.
    Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter
    polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis. Translesion DNA
    synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. May
    also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated
    phosphorylation and activation of the transcriptional activator ELK1. Inhibits the FZR1- and probably
    CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell
    cycle. Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal
    transdifferentiation

         Genatlas biochemistry entry for MAD2L2:
    mitotic arrest deficient protein 2-like 2,yeast homolog,component of the mitotic spindle assembly
    checkpoint,preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001102RNA polymerase II activating transcription factor binding IPI19443654
    GO:0005515protein binding IPI10527948
    GO:0008432JUN kinase binding IDA17296730
         
    Find genes that share ontologies with MAD2L2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MAD2L2:
     Decreased viability with cispl 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mad2l2):
     behavior/neurological  cellular  embryogenesis  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  integument  mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with MAD2L2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mad2l2tm1Ymu for MAD2L2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAD2L2
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    miRNA
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    miRTarBase miRNAs that target MAD2L2:
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    Block miRNA regulation of human, mouse, rat MAD2L2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MAD2L2:
    hsa-miR-890 hsa-miR-4290
    SwitchGear 3'UTR luciferase reporter plasmidMAD2L2 3' UTR sequence
    Inhib. RNA
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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
    MD2L2_HUMAN, Q9UI95: Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17541814
    GO:0005654nucleoplasm TAS--
    GO:0005680colocalizes with anaphase-promoting complex IDA11459825
    GO:0005737cytoplasm IEA--
    GO:0005819spindle IDA--

    Find genes that share ontologies with MAD2L2           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 MAD2L2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2DNA Damage Bypass
    DNA Damage Bypass
    Translesion synthesis by Pol zeta0.00
    Translesion synthesis by DNA polymerases bypassing lesion on DNA template0.00
    3Oocyte meiosis
    Oocyte meiosis0.35
    Progesterone-mediated oocyte maturation0.35
    4DNA Repair
    DNA Repair0.45
    5Salmonella infection (KEGG)
    Shigellosis0.30


    Find genes that share SuperPaths with MAD2L2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for MAD2L2
        Cell cycle Role of APC in cell cycle regulation

    1 BioSystems Pathway for MAD2L2
        Cell cycle


    1 Reactome Pathway for MAD2L2
        Translesion synthesis by Pol zeta


    5 Kegg Pathways  (Kegg details for MAD2L2):
        Cell cycle
    Oocyte meiosis
    Progesterone-mediated oocyte maturation
    Bacterial invasion of epithelial cells
    Shigellosis

        Pathway & Disease-focused RT2 Profiler PCR Array including MAD2L2: 
              Cell Cycle in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MAD2L2

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

    Selected Interacting proteins for MAD2L2 (Q9UI951, 2, 3 ENSP000002353104) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000225748P486342, 3, ENSP000003874774MINT-62729 MINT-62805 MINT-62631 I2D: score=5 STRING: ENSP00000387477
    ENSG00000231825P486342, 3, ENSP000004153634MINT-62729 MINT-62805 MINT-62631 I2D: score=5 STRING: ENSP00000415363
    PRRC2AP486342, 3, ENSP000003651754MINT-62729 MINT-62805 MINT-62631 I2D: score=5 STRING: ENSP00000365175
    ENSG00000206427P486342, 3MINT-62729 MINT-62805 MINT-62631 I2D: score=5 
    ENSG00000225164P486342, 3MINT-62729 MINT-62805 MINT-62631 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA19443654
    GO:0001558regulation of cell growth IGI15988022
    GO:0006281DNA repair TAS--
    GO:0006302double-strand break repair IGI15988022
    GO:0006351transcription, DNA-templated IEA--

    Find genes that share ontologies with MAD2L2           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
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    Browse Tocris compounds for MAD2L2 (MD2L2)



    (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 MAD2L2 gene (2 alternative transcripts): 
    NM_001127325.1  NM_006341.3  

    Unigene Cluster for MAD2L2:

    MAD2 mitotic arrest deficient-like 2 (yeast)
    Hs.19400  [show with all ESTs]
    Unigene Representative Sequence: AK094316
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000235310(uc001asp.3 uc009vnc.3 uc001asq.4) ENST00000376672
    ENST00000376669 ENST00000376667 ENST00000445656 ENST00000456915 ENST00000376664
    ENST00000376655 ENST00000376692
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    Additional mRNA sequence: 

    AF072933.1 AF080398.1 AF139365.1 AF157482.1 AK027327.1 AK094316.1 BC015244.1 

    8 DOTS entries:

    DT.443868  DT.86847012  DT.97839435  DT.97845161  DT.97845160  DT.121397208  DT.121397233  DT.91765968 

    Selected AceView cDNA sequences (see all 198):

    BQ219144 BQ933191 BU175468 BX283956 BG060101 AI202349 BM913330 BQ943074 
    BG746845 CR604773 BU179548 BP374847 BG575420 BG475237 AK027327 AI346937 
    BE268098 CR626073 CB106803 BM760440 CR612866 BM559475 BQ645664 AU102348 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MAD2L2 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for MAD2L2

    (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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    MAD2L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCCCTGA
    MAD2L2 Expression
    About this image


    MAD2L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Lymph (Hematopoietic System)
    MAD2L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAD2L2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.19400

    UniProtKB/Swiss-Prot: MD2L2_HUMAN, Q9UI95
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including MAD2L2: 
              Cell Cycle in human mouse rat

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    In Situ
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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 MAD2L2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mad2l21 , 5 MAD2 mitotic arrest deficient-like 2 (yeast)5
    MAD2 mitotic arrest deficient-like 21
    89.26(n)1
    98.58(a)1
      4 (78.67 cM)5
    718901  NM_027985.21  NP_082261.21 
     1481303845 
    chicken
    (Gallus gallus)
    Aves MAD2L21 MAD2 mitotic arrest deficient-like 2 (yeast) 82.31(n)
    96.68(a)
      419493  NM_001025578.1  NP_001020749.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia mad2l2-A2 MAD2 mitotic arrest deficient-like 2 (yeast) 77.83(n)    AJ318530.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.177062 Transcribed sequence with moderate similarity to protein more 76.85(n)    57052403 
    fruit fly
    (Drosophila melanogaster)
    Insecta rev76
    rev7
    30(a)
    1 ↔ 1
    3R(1414595-1415425)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons REV71 REV7 43.99(n)
    34.54(a)
      838228  NM_101522.3  NP_564002.1 


    ENSEMBL Gene Tree for MAD2L2 (if available)
    TreeFam Gene Tree for MAD2L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 MAD2L2 (see all 361)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289241151,2
    C,F--11735080(-) AGGCCC/TGGTGC 2 -- int16Minor allele frequency- T:0.03NS WA 306
    rs1860151041,2
    --11735136(+) AAGCTC/TACCTT 2 -- int10--------
    rs1416371841,2
    C,F--11735151(+) ATGTCC/TGACGT 4 S syn11Minor allele frequency- T:0.00NA 4552
    rs289241141,2
    C,F,H--11735154(-) ATGACG/ATCGGA 4 /T syn1 ese310Minor allele frequency- A:0.00NS NA 5146
    rs8787781,2
    C,F,A,H--11735245(+) GAGACA/CAAGGT 2 -- int120Minor allele frequency- C:0.20NS EA NA 2116
    rs2020010591,2
    C--11735246(+) AGACAA/CAGGTC 2 -- int10--------
    rs22330271,2
    C,F--11735262(-) GCCCCG/ATCACC 2 -- int111Minor allele frequency- A:0.13NS NA CSA WA EA 555
    rs22330261,2
    C,F,H--11735269(-) GGGCCC/TAGCCC 2 -- int110Minor allele frequency- T:0.09NS NA WA 430
    rs1826566451,2
    --11735337(+) CCTCAA/GAATCA 2 -- int10--------
    rs22729821,2
    C,F,A,H--11735377(-) GGGGGC/GGGTCC 2 -- int118Minor allele frequency- G:0.48EA NS NA WA CSA 2234

    HapMap Linkage Disequilibrium report for MAD2L2 (11734537 - 11751707 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MAD2L2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832758CNV Loss17160897
    nsv871014CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAD2L2
    DNA2.0 Custom Variant and Variant Library Synthesis for MAD2L2

    (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: 604094    OMIM disorders: --


    Find genes that share disorders with MAD2L2           About GenesLikeMe

    4 Novoseek inferred disease relationships for MAD2L2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colorectal tumors 49.1 1 17044027 (1)
    carcinoma renal cell 34.1 2 17333263 (1)
    cancer 11.5 1 17044027 (1)
    tumors 3.84 17 17044027 (3), 17333263 (2), 10660610 (1)

    Genetic Association Database (GAD): MAD2L2
    Human Genome Epidemiology (HuGE) Navigator: MAD2L2 (2 documents)

    Export disorders for MAD2L2 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 MAD2L2 gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with MAD2L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of MAD2B and other mitotic spindle checkpoint genes. (PubMed id 10366450)1, 2, 3, 9 Cahill D.P.... Lengauer C. (Genomics 1999)
    2. Interactions in the error-prone postreplication repair proteins hREV1, hREV3, and hREV7. (PubMed id 11485998)1, 2, 9 Murakumo Y.... Takahashi M. (J. Biol. Chem. 2001)
    3. Crystal structure of human REV7 in complex with a human REV3 fragment and structural implication of the interaction between DNA polymerase zeta and REV1. (PubMed id 20164194)1, 2, 9 Hara K.... Sato M. (J. Biol. Chem. 2010)
    4. A human REV7 homolog that interacts with the polymerase zeta catalytic subunit hREV3 and the spindle assembly checkpoint protein hMAD2. (PubMed id 10660610)1, 2, 9 Murakumo Y....Fishel R. (J. Biol. Chem. 2000)
    5. Hepatocellular carcinoma-associated gene 2 interacts with MAD2L2. (PubMed id 17541814)1, 2, 9 Li L.... Huo K. (Mol. Cell. Biochem. 2007)
    6. Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk. (PubMed id 17268814)1, 4, 9 Vaclavicek A....FAPrsti A. (Breast Cancer Res. Treat. 2007)
    7. Impairment of MAD2B-PRCC interaction in mitotic checkpoint defective t(X;1)-positive renal cell carcinomas. (PubMed id 11717438)1, 2, 9 Weterman M.A.... van Kessel A.G. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    8. MAD2B, a novel TCF4-binding protein, modulates TCF4-mediated epithelial-mesenchymal transdifferentiation. (PubMed id 19443654)1, 2 Hong C.F.... Wu C.W. (J. Biol. Chem. 2009)
    9. The mitotic arrest deficient protein MAD2B interacts with the small GTPase RAN throughout the cell cycle. (PubMed id 19753112)1, 2 Medendorp K.... van Kessel A.G. (PLoS ONE 2009)
    10. A bacterial effector targets Mad2L2, an APC inhibitor, to modulate host cell cycling. (PubMed id 17719540)1, 2 Iwai H.... Sasakawa C. (Cell 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: 10459 HGNC: 6764 AceView: MAD2L2 Ensembl:ENSG00000116670 euGenes: HUgn10459
    ECgene: MAD2L2 Kegg: 10459 H-InvDB: MAD2L2

    (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 MAD2L2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAD2L2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mad2l2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAD2L2 gene:
    Search GeneIP for patents involving MAD2L2

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



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