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

MASTL Gene

protein-coding   GIFtS: 56
GCID: GC10P027484

microtubule associated serine/threonine kinase-like

 Explore 4 diseases affiliated with
MASTL via our new
 Human Malady Compendium 
Biological research products
for MASTL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Microtubule Associated Serine/Threonine Kinase-Like1 2     FLJ148131 5
THC21 2 3 5     GREATWALL2
Microtubule-Associated Serine/Threonine-Protein Kinase-Like2 3     RP11-85G18.22
GW2 3     Greatwall Protein Kinase2
GWL2 3     Serine/Threonine-Protein Kinase Greatwall2
MAST-L2 3     EC 2.7.11.13
HGWL1     

External Ids:    HGNC: 190421   Entrez Gene: 849302   Ensembl: ENSG000001205397   OMIM: 6082215   UniProtKB: Q96GX53   

Export aliases for MASTL gene to outside databases

Previous GC identifers: GC10P027448 GC10P027112


(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 MASTL:
This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with
autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have
been described for this locus. (provided by RefSeq, Feb 2010)

UniProtKB/Swiss-Prot: GWL_HUMAN, Q96GX5
Function: Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and
maintenance. Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly
inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser-62' and
'Ser-67', respectively. ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta)
subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity high. Following DNA
damage, it is also involved in checkpoint recovery by being inhibited. Phosphorylates histone protein in vitro;
however such activity is unsure in vivo. May be involved in megakaryocyte differentiation

Gene Wiki entry for MASTL


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MASTL gene promoter:
         ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMASTL promoter sequence
   Search SABiosciences Chromatin IP Primers for MASTL

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


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

Entrez Gene cytogenetic band: 10p12.1   Ensembl cytogenetic band:  10p12.1   HGNC cytogenetic band: 10p12.1

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P027484:  view genomic region     (about GC identifiers)

Start:
27,443,753 bp from pter      End:
27,475,848 bp from pter
Size:
32,096 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: GWL_HUMAN, Q96GX5 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase greatwall  
Size: 879 amino acids; 97319 Da
Subcellular location: Cytoplasm, cytoskeleton, centrosome. Nucleus. Cleavage furrow. Note=During interphase is mainly
nuclear, upon nuclear envelope breakdown localizes at the cytoplasm and during mitosis at the centrosomes. Upon
mitotic exit moves to the cleavage furrow
Miscellaneous: Reduced levels of MASTL by RNAi causes mitotic abnormalities that consist of delay in G(2) phase and
slow chromosome condensation. Cells that enter and progress through mitosis often fail to completely separate their
sister chromatids in anaphase leading to the formation of 4N G(1) cells subsequent to failure of cytokinesis
(PubMed:20818157 and PubMed:20538976)
Secondary accessions: Q5T8D5 Q5T8D7 Q8NCD6 Q96SJ5
Alternative splicing: 3 isoforms:  Q96GX5-1   Q96GX5-2   Q96GX5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MASTL: NX_Q96GX5

Post-translational modifications:

  • Phosphorylation at Thr-741 by CDK1 during M phase activates its kinase activity (By similarity). Maximum
  • phosphorylation occurs in prometaphase1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96GX5

  • MASTL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001165774.1  NP_001165775.1  NP_116233.2  

    ENSEMBL proteins: 
     ENSP00000365113   ENSP00000343446   ENSP00000365107  
    Reactome Protein details: Q96GX5
    Human Recombinant Protein Products: 
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    Novus Biologicals MASTL Proteins
    Novus Biologicals MASTL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MASTL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA--
    GO:0032154cleavage furrow IDA--


    MASTL for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MASTL for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom
     IPR000961 AGC-kinase_C

    Graphical View of Domain Structure for InterPro Entry Q96GX5

    ProtoNet protein and cluster: Q96GX5

    1 Blocks protein family: IPB000961 Protein kinase C-terminal domain

    UniProtKB/Swiss-Prot: GWL_HUMAN, Q96GX5
    Similarity: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family
    Similarity: Contains 1 AGC-kinase C-terminal domain
    Similarity: Contains 1 protein kinase domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: GWL_HUMAN, Q96GX5
    Function: Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and
    maintenance. Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly
    inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser-62' and
    'Ser-67', respectively. ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta)
    subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity high. Following DNA
    damage, it is also involved in checkpoint recovery by being inhibited. Phosphorylates histone protein in vitro;
    however such activity is unsure in vivo. May be involved in megakaryocyte differentiation
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

    Enzyme Number (IUBMB): EC 2.7.11.11

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MASTL
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate MASTL (see all 12):
    hsa-miR-142-5p hsa-miR-519d hsa-miR-20a hsa-miR-106a hsa-miR-106b hsa-miR-519c-3p hsa-miR-519a hsa-miR-519b-3p
    SwitchGear 3'UTR luciferase reporter plasmidMASTL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MASTL (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MASTL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IDA--
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity IDA--
    GO:0051721protein phosphatase 2A binding ISS--


    MASTL for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for MASTL:
     Increased TP53 protein express  Increased cell death HMECs cel  Paclitaxel antagonistic effect  Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1M Phase
    M Phase1.00
    Mitotic M-M/G1 phases0.88
    2Cell Cycle
    Cell Cycle1.00
    Cell Cycle, Mitotic0.84
    3Clearance of Nuclear Envelope Membranes from Chromatin
    Mitotic Prophase0.26
    4ERK/MAPK targets
    MASTL Facilitates Mitotic Progression0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6        Reactome Pathways for MASTL (see all 6)
        Mitotic Prophase
    Cell Cycle
    M Phase
    MASTL Facilitates Mitotic Progression
    Mitotic M-M/G1 phases



    MASTL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MASTL

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for MASTL (ENSP000003651134) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUMO2ENSP000004059654STRING: ENSP00000405965
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle IMP--
    GO:0006974response to DNA damage stimulus ISS--
    GO:0007067mitosis IMP--
    GO:0016310phosphorylation ----
    GO:0034048negative regulation of protein phosphatase type 2A activity IMP--


    MASTL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 MASTL

    2 HMDB Compounds for MASTL    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Search CenterWatch for drugs/clinical trials and news about MASTL / GWL 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MASTL gene (3 alternative transcripts): 
    NM_001172303.1  NM_001172304.1  NM_032844.3  

    Unigene Cluster for MASTL:

    Microtubule associated serine/threonine kinase-like
    Hs.276905  [show with all ESTs]
    Unigene Representative Sequence: AK123004
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375946(uc001itl.3 uc001itm.3 uc009xkw.2 uc009xkx.2)
    ENST00000342386 ENST00000375940 ENST00000477034

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MASTL
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate MASTL (see all 12):
    hsa-miR-142-5p hsa-miR-519d hsa-miR-20a hsa-miR-106a hsa-miR-106b hsa-miR-519c-3p hsa-miR-519a hsa-miR-519b-3p
    SwitchGear 3'UTR luciferase reporter plasmidMASTL 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MASTL (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MASTL
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MASTL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MASTL

    Additional cDNA sequence: 

    AK027719.1 AK074804.1 AK123004.1 AK225319.1 BC009107.1 BC013704.1 

    14 DOTS entries:

    DT.109365  DT.101980847  DT.91659769  DT.121215863  DT.100673576  DT.121215847  DT.416839  DT.75111939 
    DT.99939762  DT.425443  DT.100833006  DT.91929548  DT.102843323  DT.100840954 

    24/83 AceView cDNA sequences (see all 83):

    BM679574 CB131307 BU629060 CR592673 BU620318 BU430288 CA944973 BM721150 
    BU521118 AW675108 CA777146 BF062066 BX338380 CA429284 NM_032844 BG114230 
    BP339470 BM550518 AI368025 BQ441178 CB215683 BQ224736 BU507765 BU167799 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for MASTL (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for MASTL

    (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

    MASTL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCCTGCGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MASTL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MASTL

    SOURCE GeneReport for Unigene cluster: Hs.276905
        SABiosciences Custom PCR Arrays for MASTL
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MASTL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MASTL

    (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 eukaryotes.

    Orthologs for MASTL gene from 7/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MASTL1 microtubule associated serine/threonine kinase-like 66.63(n)
    61.88(a)
      420487  XM_418589.3  XP_418589.2 
    lizard
    (Anolis carolinensis)
    Reptilia MASTL6
    --
    57(a)
    1 ↔ 1
    6(14493010-14510928)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480603222   -- 71.7(n)    48060322 
    zebrafish
    (Danio rerio)
    Actinopterygii BI886460.12   -- 75.07(n)   334737  BI886460.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta gwl6
    greatwall
    33(a)
    1 ↔ 1
    3R(14572092-14576082)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G451606
    IRE6
    (see all 4)
    protein kinase-like protein
    AGC (cAMP-dependent, cGMP-dependent and protein ki...
    (see all 4)
    15(a)
    15(a)
    (see all 4)
    1 ↔ many
    1 ↔ many
    (see all 4)
    1(17083546-17090545)
    5(25023355-25028414)
    rice
    (Oryza sativa)
    Liliopsida Os.319062 Oryza sativa (japonica cultivar-group) cDNA clone0 more 68.31(n)    AK122108.1 


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

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/557 NCBI SNPs in MASTL are shown (see all 557    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1389410681,2
    C,--27445439(+) AATAA-/TTTTTT 3 -- int10--------
    rs715235601,2
    C--27445440(+) TTTTTT/-AAGAC 3 -- int11Minor allele frequency- -:0.50NA 2
    rs1434729701,2
    C,--27445460(+) GTCTT-/TCTC  
            
    TGTCG
    3 -- int10--------
    rs665627561,2
    C--27445461(+) TCTTTCTCT/-  
            
    GTCGC
    3 -- int11Minor allele frequency- -:0.50NA 2
    rs1848935951,2
    --27445553(+) CCTCCC/GGAGTA 3 -- int10--------
    rs110155751,2
    C,F,A,--27445574(+) CAGGCC/GCGCGC 3 -- int15Minor allele frequency- G:0.40NA WA 10
    rs1180927401,2
    F,--27445598(+) TGATTT/CGTGTA 3 -- int11Minor allele frequency- C:0.03NA 120
    rs70974421,2
    C,F,H,--27445609(+) gttttT/Cttttt 3 -- int1 trp35Minor allele frequency- C:0.01NS EA CSA 422
    rs12530451,2
    C,F,A,H,--27445726(+) ttacaG/Agtgtg 3 -- int15Minor allele frequency- A:0.50NA 10
    rs64825991,2
    C,A,--27445944(+) gcaggC/Ttggtc 3 -- int11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for MASTL (27443753 - 27475848 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MASTL
         2 CNVs: 5589 5416
    Human Gene Mutation Database (HGMD): MASTL

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MASTL for disorders           About GeneDecksing

    OMIM gene information: 608221   
    OMIM disorders: 188000  
    UniProtKB/Swiss-Prot: GWL_HUMAN, Q96GX5
  • Defects in MASTL are the cause of thrombocytopenia type 2 (THC2) [MIM:188000]. Thrombocytopenia is defined by
  • a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and
    decreased ability for clotting

    4 diseases for MASTL:    About MalaCards
    thrombocytopenia 2    thrombocytopenia    gray platelet syndrome    alzheimer's disease

    Human Genome Epidemiology (HuGE) Navigator: MASTL (1 document)

    Export disorders for MASTL 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 MASTL gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with MASTL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MASTL is the human orthologue of Greatwall kinase that facilitates mitotic entry, anaphase and cytokinesis. (PubMed id 20818157)1, 2 Voets E. and Wolthuis R.M.F. (2010)
    2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    6. FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. (PubMed id 12890928)1, 2 Gandhi M.J.... Drachman J.G. (2003)
    7. Thrombocytopenias due to gray platelet syndrome or TH C2 mutations. (PubMed id 22102272)1 Di Paola J. and Johnson J. (2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Characterization of the mechanisms controlling Greatw all activity. (PubMed id 21444715)1 Vigneron S....Castro A. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 84930 HGNC: 19042 AceView: MASTL Ensembl:ENSG00000120539 euGenes: HUgn84930
    ECgene: MASTL H-InvDB: MASTL

    (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 MASTL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MASTL

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

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



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     Regulatory tfbs in MASTL promoter
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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