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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. Gene Ontology (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).

Additional gene information for MAMSTR Gene

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

GeneHancer (GH) Regulatory Elements for MAMSTR Gene

Promoters and enhancers for MAMSTR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I048712 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.6 2578 8.8 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 MAMSTR FUT2 IZUMO1 RASIP1 GRWD1 NOP53-AS1 SNRNP70 NOSIP RUVBL2 DKKL1
GH19I048632 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.7 +83.3 83301 7.8 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 SEC1P DBP PRR12 SNRNP70 GRWD1 PIH1D1 ENSG00000268093 SNORD35A RPS11 NOP53-AS1
GH19I048794 Enhancer 1.5 Ensembl ENCODE dbSUPER 11.2 -76.1 -76056 2.7 HDGF CLOCK ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF766 RASIP1 NUCB1-AS1 PRR12 SNRNP70 IZUMO1 TULP2 MAMSTR FUT2 NUCB1 CGB7
GH19I048768 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.8 -52.1 -52105 6.8 PKNOX1 FOXA2 MLX ARNT ARID4B YY1 TCF12 ZNF121 ATF7 RXRA SCAF1 FUT2 IZUMO1 RASIP1 BCAT2 DKKL1 MAMSTR SEC1P DBP TULP2
GH19I048672 Enhancer 1.1 Ensembl ENCODE 13.4 +43.8 43837 7 HDGF ARID4B SIN3A ZNF48 YY1 ZNF121 ZNF143 RUNX3 YY2 REST LOC105372431 FUT2 RASIP1 MAMSTR SEC1P DBP IZUMO1 BCAT2 NUCB1 TULP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAMSTR on UCSC Golden Path with GeneCards custom track

Genomic Locations for MAMSTR Gene

Genomic Locations for MAMSTR Gene
chr19:48,712,722-48,719,778
(GRCh38/hg38)
Size:
7,057 bases
Orientation:
Minus strand
chr19:49,215,999-49,222,978
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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).

Phenotypes From GWAS Catalog for MAMSTR Gene

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

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 by RNA polymerase II 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

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 33 34
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia MAMSTR 33 34
  • 85.55 (n)
cow
(Bos Taurus)
Mammalia MAMSTR 33 34
  • 85.03 (n)
mouse
(Mus musculus)
Mammalia Mamstr 33 16 34
  • 79.17 (n)
rat
(Rattus norvegicus)
Mammalia Mamstr 33
  • 78.65 (n)
oppossum
(Monodelphis domestica)
Mammalia MAMSTR 34
  • 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 Variation AA Info Type
rs1000039168 -- 48,714,038(-) G/A coding_sequence_variant, missense_variant
rs1000039996 -- 48,706,675(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000350657 -- 48,718,911(-) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000402927 -- 48,718,649(-) A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000483030 -- 48,718,500(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 EE … Olson EN (Molecular cell 2006) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) Willer CJ … Global Lipids Genetics Consortium (Nature genetics 2013) 3 58
  4. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (PMID: 23449627) Cousminer DL … Early Growth Genetics (EGG) Consortium (Human molecular genetics 2013) 3 58
  5. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PMID: 21833088) International Multiple Sclerosis Genetics Consortium … Compston A (Nature 2011) 3 58

Products for MAMSTR Gene

Sources for MAMSTR Gene

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