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Aliases for MAMSTR Gene

Aliases for MAMSTR Gene

  • MEF2 Activating Motif And SAP Domain Containing Transcriptional Regulator 2 3
  • MEF2-Activating SAP Transcriptional Regulatory Protein 3 4
  • MASTR 3 4
  • Likely Ortholog Of MEF2-Activating SAP Transcriptional Regulator 3
  • MEF2-Activating SAP Transcriptional Regulator 2

External Ids for MAMSTR Gene

Previous GeneCards Identifiers for MAMSTR Gene

  • GC19M053909
  • GC19M049216
  • GC19M045595

Summaries for MAMSTR Gene

GeneCards Summary for MAMSTR Gene

MAMSTR (MEF2 Activating Motif And SAP Domain Containing Transcriptional Regulator) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding and transcription factor activity, RNA polymerase II transcription factor binding.

UniProtKB/Swiss-Prot for MAMSTR Gene

  • 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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAMSTR Gene

Genomics for MAMSTR Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MAMSTR Gene

Chromosome:
19
Start:
48,712,722 bp from pter
End:
48,719,778 bp from pter
Size:
7,057 bases
Orientation:
Minus strand

Genomic View for MAMSTR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAMSTR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAMSTR Gene

No data available for Regulatory Elements for MAMSTR Gene

Proteins for MAMSTR Gene

  • Protein details for MAMSTR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZN01-MASTR_HUMAN
    Recommended name:
    MEF2-activating motif and SAP domain-containing transcriptional regulator
    Protein Accession:
    Q6ZN01
    Secondary Accessions:
    • B7ZKX4
    • Q3KQU9
    • Q8N9Y3

    Protein attributes for MAMSTR Gene

    Size:
    415 amino acids
    Molecular mass:
    44632 Da
    Quaternary structure:
    • Interacts with MEF2C.

    Alternative splice isoforms for MAMSTR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAMSTR Gene

Proteomics data for MAMSTR Gene at MOPED

Post-translational modifications for MAMSTR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAMSTR Gene

Antibody Products

No data available for DME Specific Peptides for MAMSTR Gene

Domains & Families for MAMSTR Gene

Protein Domains for MAMSTR Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MAMSTR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZN01

UniProtKB/Swiss-Prot:

MASTR_HUMAN :
  • Contains 1 SAP domain.
Domain:
  • Contains 1 SAP domain.
genes like me logo Genes that share domains with MAMSTR: view

No data available for Gene Families for MAMSTR Gene

Function for MAMSTR Gene

Molecular function for MAMSTR Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for MAMSTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001076 transcription factor activity, RNA polymerase II transcription factor binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with MAMSTR: view

Phenotypes for MAMSTR Gene

MGI mutant phenotypes for MAMSTR:
inferred from 2 alleles
GenomeRNAi human phenotypes for MAMSTR:
genes like me logo Genes that share phenotypes with MAMSTR: view

Animal Models for MAMSTR Gene

MGI Knock Outs for MAMSTR:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAMSTR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for MAMSTR Gene

Localization for MAMSTR Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAMSTR Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAMSTR Gene COMPARTMENTS Subcellular localization image for MAMSTR gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for MAMSTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with MAMSTR: view

Pathways & Interactions for MAMSTR Gene

SuperPathways for MAMSTR Gene

No Data Available

Interacting Proteins for MAMSTR Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000324175%0d%0a9606.ENSP00000401678%0d%0a
Selected Interacting proteins: Q6ZN01-MASTR_HUMAN ENSP00000324175 for MAMSTR Gene via I2D STRING

Gene Ontology (GO) - Biological Process for MAMSTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0010831 positive regulation of myotube differentiation IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with MAMSTR: view

No data available for Pathways by source and SIGNOR curated interactions for MAMSTR Gene

Drugs & Compounds for MAMSTR Gene

No Compound Related Data Available

Transcripts for MAMSTR Gene

Unigene Clusters for MAMSTR Gene

MEF2 activating motif and SAP domain containing transcriptional regulator:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAMSTR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAMSTR Gene

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

Relevant External Links for MAMSTR Gene

GeneLoc Exon Structure for
MAMSTR
ECgene alternative splicing isoforms for
MAMSTR

Expression for MAMSTR Gene

mRNA expression in normal human tissues for MAMSTR Gene

mRNA differential expression in normal tissues according to GTEx for MAMSTR Gene

This gene is overexpressed in Muscle - Skeletal (x11.3) and Adrenal Gland (x6.9).

Protein differential expression in normal tissues from HIPED for MAMSTR Gene

This gene is overexpressed in Neutrophil (68.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAMSTR Gene



SOURCE GeneReport for Unigene cluster for MAMSTR Gene Hs.191815

mRNA Expression by UniProt/SwissProt for MAMSTR Gene

Q6ZN01-MASTR_HUMAN
Tissue specificity: Expressed in skeletal muscle, brain, placenta and spleen.
genes like me logo Genes that share expression patterns with MAMSTR: view

Protein tissue co-expression partners for MAMSTR Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MAMSTR Gene

Orthologs for MAMSTR Gene

This gene was present in the common ancestor of mammals.

Orthologs for MAMSTR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAMSTR 35
  • 85.03 (n)
  • 82.04 (a)
MAMSTR 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAMSTR 35
  • 85.55 (n)
  • 81.6 (a)
MAMSTR 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mamstr 35
  • 79.17 (n)
  • 78.19 (a)
Mamstr 16
Mamstr 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAMSTR 35
  • 99.52 (n)
  • 99.28 (a)
MAMSTR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mamstr 35
  • 78.65 (n)
  • 77.51 (a)
oppossum
(Monodelphis domestica)
Mammalia MAMSTR 36
  • 43 (a)
OneToOne
Species with no ortholog for MAMSTR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MAMSTR Gene

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

Paralogs for MAMSTR Gene

No data available for Paralogs for MAMSTR Gene

Variants for MAMSTR Gene

Sequence variations from dbSNP and Humsavar for MAMSTR Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs759602557 -- 48,713,902(+) AGAGT(C/T)AGAGC synonymous-codon, reference
rs759469696 -- 48,717,458(+) TACCT(A/G)AATTT intron-variant, upstream-variant-2KB
rs759360839 -- 48,714,957(+) GGGGG(A/G)AAAGG intron-variant
rs759132010 -- 48,713,539(+) AATAG(C/G)GGGCA reference, missense
rs759081841 -- 48,712,652(+) GTCTC(A/G)AACTC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for MAMSTR Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
dgv3967n71 CNV Loss 21882294
nsv912236 CNV Gain 21882294
nsv912237 CNV Loss 21882294
nsv912238 CNV Gain 21882294
nsv912239 CNV Loss 21882294
dgv3968n71 CNV Loss 21882294
nsv912242 CNV Loss 21882294

Variation tolerance for MAMSTR Gene

Residual Variation Intolerance Score: 36.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 42.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAMSTR Gene

HapMap Linkage Disequilibrium report
MAMSTR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAMSTR Gene

Disorders for MAMSTR Gene

Relevant External Links for MAMSTR

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAMSTR
genes like me logo Genes that share disorders with MAMSTR: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAMSTR Gene

Publications for MAMSTR Gene

  1. Coactivation of MEF2 by the SAP domain proteins myocardin and MASTR. (PMID: 16818234) Creemers E.E. … Olson E.N. (Mol. Cell 2006) 2 67
  2. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) . … Abecasis G.R. (Nat. Genet. 2013) 67
  3. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (PMID: 23449627) Cousminer D.L. … WidAcn E. (Hum. Mol. Genet. 2013) 67
  4. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) (Nat. Genet. 2011) 67
  5. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PMID: 21833088) . … Compston A. (Nature 2011) 67

Products for MAMSTR Gene

Sources for MAMSTR Gene

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