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Aliases for MAMSTR Gene

Aliases for MAMSTR Gene

  • MEF2 Activating Motif And SAP Domain Containing Transcriptional Regulator 2 3 5
  • MEF2-Activating SAP Transcriptional Regulatory Protein 3 4
  • MASTR 3 4
  • MEF2-Activating Motif And SAP Domain-Containing Transcriptional Regulator 3
  • 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 , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAMSTR Gene

Genomics for MAMSTR Gene

Regulatory Elements for MAMSTR Gene

Enhancers for MAMSTR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G048632 1.7 Ensembl ENCODE dbSUPER 10.7 +83.3 83302 7.8 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PRR12 ENSG00000268093 GRWD1 RPS11 SNORD35A PIH1D1 RPL18 NOP53-AS1 SNORD35B ALDH16A1
GH19G048794 1.6 Ensembl ENCODE dbSUPER 11.2 -76.1 -76056 2.7 HDGF CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 NUCB1-AS1 PRR12 IZUMO1 RASIP1 TULP2 MAMSTR FUT2 NUCB1 CGB7 NTF4
GH19G048768 1.5 Ensembl ENCODE dbSUPER 11.7 -52.1 -52106 6.8 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B YY1 TCF12 ZNF121 FOS FUT2 IZUMO1 RASIP1 BCAT2 MAMSTR DBP SEC1P DKKL1 TULP2 NUCB1
GH19G048672 1.2 Ensembl ENCODE 13.4 +43.8 43838 7.0 HDGF ARID4B SIN3A YBX1 ZNF48 YY1 TCF12 ZNF121 ZNF143 ZNF207 FUT2 RASIP1 MAMSTR DBP SEC1P IZUMO1 BCAT2 NUCB1 TULP2 NUCB1-AS1
GH19G048628 1.4 Ensembl ENCODE dbSUPER 11.2 +89.3 89303 3.1 HDGF FOXA2 NFIB AGO1 SREBF2 BMI1 EGR1 RCOR1 SP3 NFYA SPACA4 FUT2 MAMSTR SEC1P ENSG00000268093 DBP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAMSTR on UCSC Golden Path with GeneCards custom track

Promoters for MAMSTR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110761 -1122 1001 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

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

Genes around MAMSTR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAMSTR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAMSTR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for MAMSTR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MAMSTR Gene

Domains & Families for MAMSTR Gene

Gene 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

genes like me logo Genes that share domains with MAMSTR: view

No data available for UniProtKB/Swiss-Prot 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 --
genes like me logo Genes that share ontologies with MAMSTR: view
genes like me logo Genes that share phenotypes with MAMSTR: view

Animal Models for MAMSTR Gene

MGI Knock Outs for MAMSTR:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAMSTR gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1

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://version10.5.string-db.org/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: ENSP00000324175 Q6ZN01-MASTR_HUMAN for MAMSTR Gene via STRING IID

Gene Ontology (GO) - Biological Process for MAMSTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of 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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for MAMSTR Gene

NURSA nuclear receptor signaling pathways regulating expression of MAMSTR Gene:

MAMSTR

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.

Evidence on tissue expression from TISSUES for MAMSTR Gene

  • Muscle(4.5)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with MAMSTR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MAMSTR 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia MAMSTR 34 35
  • 85.55 (n)
cow
(Bos Taurus)
Mammalia MAMSTR 34 35
  • 85.03 (n)
mouse
(Mus musculus)
Mammalia Mamstr 34 16 35
  • 79.17 (n)
rat
(Rattus norvegicus)
Mammalia Mamstr 34
  • 78.65 (n)
oppossum
(Monodelphis domestica)
Mammalia MAMSTR 35
  • 43 (a)
OneToOne
Species where no ortholog for MAMSTR was found in the sources mined by GeneCards:
  • 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
rs1000039168 -- 48,714,038(+) CGCTG(A/G)GCTTG reference, missense
rs1000039996 -- 48,706,675(+) TTTAG(A/G)TCTCA utr-variant-3-prime
rs1000350657 -- 48,718,911(+) CCTTC(C/G)CACCC intron-variant, upstream-variant-2KB
rs1000402927 -- 48,718,649(+) CCCAC(A/T)CTGGT intron-variant, upstream-variant-2KB
rs1000483030 -- 48,718,500(+) CTCCC(A/G)CCTCA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv9739 CNV gain+loss 18304495

Variation tolerance for MAMSTR Gene

Residual Variation Intolerance Score: 36.9% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for MAMSTR Gene.

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 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) . … Abecasis G.R. (Nat. Genet. 2013) 3 64
  4. 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) 3 64
  5. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PMID: 21833088) . … Compston A. (Nature 2011) 3 64

Products for MAMSTR Gene

Sources for MAMSTR Gene

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