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

MAMSTR Gene

protein-coding   GIFtS: 43
GCID: GC19M049216

MEF2 Activating Motif And SAP Domain Containing Transcriptional...

  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
MEF2 Activating Motif And SAP Domain Containing Transcriptional
Regulator1 2
MEF2-Activating SAP Transcriptional Regulator1 2
MASTR2 3
MEF2-Activating SAP Transcriptional Regulatory Protein2 3
Likely Ortholog Of MEF2-Activating SAP Transcriptional Regulator2
MEF2-Activating Motif And SAP Domain-Containing Transcriptional Regulator2

External Ids:    HGNC: 266891   Entrez Gene: 2843582   Ensembl: ENSG000001769097   OMIM: 6103495   UniProtKB: Q6ZN013   

Export aliases for MAMSTR gene to outside databases

Previous GC identifers: GC19M053909 GC19M045595


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

GeneCards Summary for MAMSTR Gene: 
MAMSTR (MEF2 activating motif and SAP domain containing transcriptional regulator) is a protein-coding gene. Diseases associated with MAMSTR include substance abuse, and multiple sclerosis. GO annotations related to this gene include RNA polymerase II transcription factor binding transcription factor activity and nucleic acid binding.

UniProtKB/Swiss-Prot: MASTR_HUMAN, Q6ZN01
Function: Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity
in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity)




(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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MAMSTR
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MAMSTR

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


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M049216:  view genomic region     (about GC identifiers)

Start:
49,215,999 bp from pter      End:
49,222,978 bp from pter
Size:
6,980 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: MASTR_HUMAN, Q6ZN01 (See protein sequence)
Recommended Name: MEF2-activating motif and SAP domain-containing transcriptional regulator  
Size: 415 amino acids; 44632 Da
Subunit: Interacts with MEF2C (By similarity)
Subcellular location: Nucleus (By similarity)
Secondary accessions: B7ZKX4 Q3KQU9 Q8N9Y3
Alternative splicing: 3 isoforms:  Q6ZN01-1   Q6ZN01-2   Q6ZN01-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MAMSTR: NX_Q6ZN01

Explore proteomics data for MAMSTR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6ZN01

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

    MAMSTR Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001124387.1  NP_872380.1  

    ENSEMBL proteins: 
     ENSP00000324175   ENSP00000349192   ENSP00000471590   ENSP00000469544   ENSP00000469127  
     ENSP00000393801   ENSP00000366584  

    Human Recombinant Protein Products for MAMSTR: 
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    Cloud-Clone Corp. Proteins for MAMSTR 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    MAMSTR for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003034 SAP_dom

    Graphical View of Domain Structure for InterPro Entry Q6ZN01

    ProtoNet protein and cluster: Q6ZN01

    1 Blocks protein domain: IPB003034 DNA-binding SAP

    UniProtKB/Swiss-Prot: MASTR_HUMAN, Q6ZN01
    Similarity: Contains 1 SAP domain


    MAMSTR 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: MASTR_HUMAN, Q6ZN01
    Function: Transcriptional coactivator. Stimulates the transcriptional activity of MEF2C. Stimulates MYOD1 activity
    in part via MEF2, resulting in an enhancement of skeletal muscle differentiation (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001076RNA polymerase II transcription factor binding transcription factor activity IEA--
    GO:0003676nucleic acid binding IEA--
    GO:0005515protein binding ----
         
    MAMSTR for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mamstr):
     cellular  growth/size  mortality/aging  muscle 

    MAMSTR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mamstrtm1.2Eno for MAMSTR

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAMSTR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MAMSTR

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

    miRNA
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    hsa-miR-424 hsa-miR-15a hsa-miR-195 hsa-miR-497 hsa-miR-16 hsa-miR-15b
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAMSTR


    (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



    Interactions:

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

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for MAMSTR (Q6ZN013 ENSP000003241754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYOCDQ8IZQ83, ENSP000003418354I2D: score=1 STRING: ENSP00000341835
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006366transcription from RNA polymerase II promoter ----
    GO:0010831positive regulation of myotube differentiation IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--

    MAMSTR 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 MAMSTR (MASTR)

    Search CenterWatch for drugs/clinical trials and news about MAMSTR / MASTR

    (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 MAMSTR gene (2 alternative transcripts): 
    NM_001130915.1  NM_182574.2  

    Unigene Cluster for MAMSTR:

    MEF2 activating motif and SAP domain containing transcriptional regulator
    Hs.191815  [show with all ESTs]
    Unigene Representative Sequence: AK093389
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000318083(uc002pkg.2) ENST00000356751(uc002pkf.2) ENST00000594582
    ENST00000599703 ENST00000595591 ENST00000419611 ENST00000377367
    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate MAMSTR:
    hsa-miR-424 hsa-miR-15a hsa-miR-195 hsa-miR-497 hsa-miR-16 hsa-miR-15b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    OriGene qPCR primer pairs and template standards for MAMSTR
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAMSTR
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    Additional mRNA sequence: 

    AK093389.1 AK131427.1 BC105056.1 BC105058.1 BC106047.1 BC143443.1 

    6 DOTS entries:

    DT.99939957  DT.302669  DT.95179369  DT.100836677  DT.97824546  DT.40211898 

    24/26 AceView cDNA sequences (see all 26):

    BX280379 BQ082086 AA323136 BI761224 BF306260 BQ081916 AX748093 NM_182574 
    AK093389 BQ773031 BM475027 BM973739 CA417466 AK131427 BX460086 AA610125 
    AA679911 BI830703 BG748885 BF792875 BU536747 BF872007 BX431575 BX431574 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MAMSTR    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9
    SP1:                                                                                          
    SP2:              -     -           -     -                                                   
    SP3:                                -                                                         


    ECgene alternative splicing isoforms for MAMSTR

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.191815

    UniProtKB/Swiss-Prot: MASTR_HUMAN, Q6ZN01
    Tissue specificity: Expressed in skeletal muscle, brain, placenta and spleen

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAMSTR

    (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 chordates.

    Orthologs for MAMSTR gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mamstr1 , 5 MEF2 activating motif and SAP domain containing transcriptional more1, 5 78.92(n)1
    78.19(a)1
      7 (29.40 cM)5
    744901  NM_172418.21  NP_766006.21 
     456399775 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5737411 uncharacterized LOC573741 47.75(n)
    38.73(a)
      573741  XM_692938.5  XP_698030.5 


    ENSEMBL Gene Tree for MAMSTR (if available)
    TreeFam Gene Tree for MAMSTR (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, 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

    10/160 SNPs in MAMSTR are shown (see all 160)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1894769801,2
    --49215851(+) TTTTTG/TTTTGT 2 -- ds50010--------
    rs1170627441,2
    C,F--49215853(+) TTTTTT/GTGTGT 2 -- ds50011Minor allele frequency- G:0.05EA 120
    rs1819559161,2
    --49215865(+) TGTGTG/TTTTGG 2 -- ds50010--------
    rs1856611341,2
    --49215959(+) GCTGGA/GATCGC 2 -- ds50010--------
    rs1453698361,2
    C--49216033(+) TCTCAC/GGCTCT 2 -- ds50010--------
    rs2042481,2
    C,F,A--49216224(+) GGGTCG/CGGGGC 2 -- ds50016Minor allele frequency- C:0.46NA WA EA 364
    rs1896264871,2
    --49216313(+) CAACCA/GTACCA 2 -- ut310--------
    rs1488473621,2
    --49216323(+) ACGCCA/GGAGGG 2 -- ut310--------
    rs1815249991,2
    --49216330(+) AGGGGA/GATCAT 2 -- ut310--------
    rs1862209361,2
    C--49216472(+) ACAAGA/GAGCTT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for MAMSTR (49215999 - 49222978 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MAMSTR:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3967n71CNV Loss21882294
    dgv3968n71CNV Loss21882294
    nsv912237CNV Loss21882294
    nsv912239CNV Loss21882294
    nsv912242CNV Loss21882294
    nsv912236CNV Gain21882294
    nsv912238CNV Gain21882294
    nsv9739CNV Gain+Loss18304495

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    (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: 610349    OMIM disorders: --

    2 diseases for MAMSTR:    About MalaCards
    substance abuse    multiple sclerosis


    MAMSTR for disorders           About GeneDecksing


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

    1. Coactivation of MEF2 by the SAP domain proteins myocardin and MASTR. (PubMed id 16818234)1, 2, 3 Creemers E.E.... Olson E.N. (2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Genome-wide association and longitudinal analyses reve al genetic loci linking pubertal height growth, pubertal timing and childhood ad iposity. (PubMed id 23449627)1 Cousminer D.L....Widen E. (2013)
    4. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1  ....Compston A. (2011)
    5. Large-scale genome-wide association analysis of bipol ar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 Sklar P....Purcell S.M. (2011)
    6. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influe nce the microcirculation in vivo. (PubMed id 21060863)1 Ikram M.K....Wong T.Y. (2010)
    7. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (2010)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 284358 HGNC: 26689 AceView: FLJ36070 Ensembl:ENSG00000176909 euGenes: HUgn284358
    ECgene: MAMSTR H-InvDB: MAMSTR

    (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 MAMSTR Pharmacogenomics, SNPs, Pathways

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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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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