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

MASTL Gene

protein-coding   GIFtS: 61
GCID: GC10P027484

Microtubule Associated Serine/Threonine Kinase-Like

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(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
Microtubule Associated Serine/Threonine Kinase-Like1 2     GREATWALL2
THC22 3 5     RP11-85G18.22
Microtubule-Associated Serine/Threonine-Protein Kinase-Like2 3     Greatwall Protein Kinase2
GW2 3     Serine/Threonine-Protein Kinase Greatwall2
GWL2 3     EC 2.7.11.13
MAST-L2 3     FLJ148135
hGWL2 3     

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 Gene:
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)

GeneCards Summary for MASTL Gene: 
MASTL (microtubule associated serine/threonine kinase-like) is a protein-coding gene. Diseases associated with MASTL include thrombocytopenia 2, and thrombocytopenia, and among its related super-pathways are Mitotic M-M/G1 phases and Cell Cycle, Mitotic. GO annotations related to this gene include protein serine/threonine kinase activity and protein phosphatase 2A binding. An important paralog of this gene is CDC42BPG.

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 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_000010.10  NT_008705.16  NC_018921.2  
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:
27,475,853 bp from pter
Size:
32,101 bases      Orientation:
plus 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: GWL_HUMAN, Q96GX5 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase greatwall  
Size: 879 amino acids; 97319 Da
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, 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

Explore proteomics data for MASTL at MOPED 

Post-translational modifications:

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

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

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

    ENSEMBL proteins: 
     ENSP00000365113   ENSP00000365107   ENSP00000343446  
    Reactome Protein details: Q96GX5
    Human Recombinant Protein Products for MASTL: 
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    Novus Biologicals MASTL Proteins
    Novus Biologicals MASTL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MASTL 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA--
    GO:0032154cleavage furrow IDA--

    MASTL for ontologies           About GeneDecksing



    MASTL Antibody Products: 
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    Assay Products for MASTL: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Microtubule associated serine/threonine kinase-like 
    MAST family
    Other AGC kinases

    4 InterPro protein domains:
     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 domain: 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


    MASTL 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: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity IDA--
         
    MASTL for ontologies           About GeneDecksing


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

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

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

    miRNA
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    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
    Products:
        
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    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for MASTL
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    (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 MASTL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1M Phase
    M Phase0.88
    Mitotic M-M/G1 phases0.88
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    3Regulation of Glucokinase by Glucokinase Regulatory Protein
    Mitotic Prophase0.70
    4DNA Damage
    Cell Cycle / Checkpoint Control0.32
    5ERK/MAPK targets
    MASTL Facilitates Mitotic Progression0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle IMP--
    GO:0000278mitotic cell cycle TAS--
    GO:0006468protein phosphorylation ----
    GO:0006974response to DNA damage stimulus ISS--
    GO:0007067mitosis IMP--

    MASTL 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 MASTL (GWL)

    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 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 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)
    ENST00000375940 ENST00000342386 ENST00000477034

    miRNA
    Products:
         
    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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MASTL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MASTL
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MASTL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MASTL
    Sirion Biotech Customized lentivirus for stable overexpression of MASTL 
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    Additional mRNA 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.416839  DT.121215847  DT.99939762 
    DT.425443  DT.75111939  DT.100833006  DT.91929548  DT.102843323  DT.100840954 

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

    BF062066 BM679574 CB131307 BU620318 CR592673 BU521118 BM721150 CA944973 
    BU430288 AW675108 CA777146 BU629060 AA305176 BU619962 BX509681 AL520252 
    AW074511 AL541215 AU252638 BU167799 NM_032844 CB215683 BC009107 BG114230 

    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)      MASTL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCCTGCGGT
    MASTL Expression
    About this image


    MASTL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             oocyte   
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow

    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
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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 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mastl1 , 5 microtubule associated serine/threonine kinase-like1, 5 82.25(n)1
    75.99(a)1
      2 (15.23 cM)5
    671211  NM_025979.41  NP_080255.31 
     231156065 
    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
    Uncharacterized protein
    58(a)
    1 ↔ 1
    6(14492716-14512293)
    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
    18(a)
    1 ↔ 1
    3R(14572092-14576082)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RIM156
    Glucose-repressible protein kinase involved in sig...
    7(a)
    1 ↔ 1
    VI(69115-74427)
    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
    Paralogs for MASTL gene
    CDC42BPG2  DMPK2  LATS12  CDC42BPB2  STK38L2  STK382  CIT2  ROCK12  
    CDC42BPA2  LATS22  ROCK22  
    1 SIMAP similar gene for MASTL using alignment to 1 protein entry:     GWL_HUMAN:
    PRKAA1

    MASTL 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

    10/778 SNPs in MASTL are shown (see all 778)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs7882221,2
    C,F,A,H--27348520(+) CCATAT/CAGCAA 3 -- us2k18Minor allele frequency- C:0.02NS EA NA WA 660
    rs559554601,2
    C,F--27348533(+) GCCAGT/ACATCT 3 -- us2k19Minor allele frequency- A:0.29NA WA CSA EA 369
    rs1491391391,2
    --27348639(+) TGATCA/TGCCTC 3 -- us2k10--------
    rs17753501,2
    C,F,A,H--27348688(+) AACTAC/TTATGT 3 -- us2k118Minor allele frequency- T:0.14NS EA NA WA 2174
    rs122511551,2
    C,F,H--27348691(+) tactaT/Cgttct 3 -- us2k16Minor allele frequency- C:0.04NS EA WA NA 656
    rs590896511,2
    C,F--27348803(+) TCACCT/ATGCTA 3 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1874753181,2
    --27348822(+) TCATAC/TTTACT 3 -- us2k10--------
    rs576717721,2
    C,F--27348836(+) TATCAA/GTATTA 3 -- us2k14Minor allele frequency- G:0.12WA NA EA EU 811
    rs1904475081,2
    --27348850(+) GAAGAC/TTCCAC 3 -- us2k10--------
    rs47475861,2
    C,F,H--27348883(+) ATAACT/GGATGC 3 -- us2k111Minor allele frequency- G:0.13NS EA NA 1150

    HapMap Linkage Disequilibrium report for MASTL (27443753 - 27475853 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MASTL:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422253CNV Deletion17116639
    esv2664616CNV Deletion23128226
    nsv25396CNV Loss16902084


    Human Gene Mutation Database (HGMD): MASTL
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MASTL
    DNA2.0 Custom Variant and Variant Library Synthesis for MASTL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608221   
    OMIM disorders: 188000  
    UniProtKB/Swiss-Prot: GWL_HUMAN, Q96GX5
  • Thrombocytopenia 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. Note=The disease is caused by mutations affecting the gene represented in this entry

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

    1 disease from the University of Copenhagen DISEASES database for MASTL:
    Thrombocytopenia

    MASTL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): MASTL
    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 37):
    (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. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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)
    6. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    7. 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)
    8. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    9. A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells. (PubMed id 22412018)1 Roux K.J.... Burke B. (2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)

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

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