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Aliases for MSC Gene

Aliases for MSC Gene

  • Musculin 2 3
  • Class A Basic Helix-Loop-Helix Protein 22 3 4
  • Activated B-Cell Factor-1 2 3
  • BHLHa22 3 4
  • ABF-1 3 4
  • ABF1 3 4
  • Activated B-Cell Factor 1, Homolog Of Mouse Musculin 3
  • Musculin (Activated B-Cell Factor-1) 2
  • Activated B-Cell Factor 1 4
  • MYOR 3

External Ids for MSC Gene

Previous GeneCards Identifiers for MSC Gene

  • GC08M072694
  • GC08M072476
  • GC08M072803
  • GC08M072916
  • GC08M068248

Summaries for MSC Gene

Entrez Gene Summary for MSC Gene

  • The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq, Jul 2008]

GeneCards Summary for MSC Gene

MSC (Musculin) is a Protein Coding gene. Among its related pathways are Id Signaling Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription corepressor activity. An important paralog of this gene is TCF24.

UniProtKB/Swiss-Prot for MSC Gene

  • Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role in regulating antigen-dependent B-cell differentiation

Gene Wiki entry for MSC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSC Gene

Genomics for MSC Gene

Regulatory Elements for MSC Gene

Epigenetics Products

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

Genomic Location for MSC Gene

Chromosome:
8
Start:
71,841,542 bp from pter
End:
71,844,496 bp from pter
Size:
2,955 bases
Orientation:
Minus strand

Genomic View for MSC Gene

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

RefSeq DNA sequence for MSC Gene

Proteins for MSC Gene

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

    Protein Symbol:
    O60682-MUSC_HUMAN
    Recommended name:
    Musculin
    Protein Accession:
    O60682
    Secondary Accessions:
    • O75946
    • Q53XZ2
    • Q9BRE7

    Protein attributes for MSC Gene

    Size:
    206 amino acids
    Molecular mass:
    22068 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or a heterodimer. Forms a heterodimer with TCF3
    SequenceCaution:
    • Sequence=AAC15071.1; Type=Frameshift; Positions=189; Evidence={ECO:0000305};

neXtProt entry for MSC Gene

Proteomics data for MSC Gene at MOPED

Post-translational modifications for MSC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MSC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MSC Gene

Domains & Families for MSC Gene

Gene Families for MSC Gene

Protein Domains for MSC Gene

Suggested Antigen Peptide Sequences for MSC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60682

UniProtKB/Swiss-Prot:

MUSC_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with MSC: view

Function for MSC Gene

Molecular function for MSC Gene

GENATLAS Biochemistry:
activated B cell factor 1,musculin,mouse homolog,predominantly expressed in a subset of lymphoid tissues in adult and activated B cells,maybe involved in regulating antigen-dependent B cell differentiation
UniProtKB/Swiss-Prot Function:
Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role in regulating antigen-dependent B-cell differentiation

Gene Ontology (GO) - Molecular Function for MSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9584154
GO:0003714 transcription corepressor activity TAS 9584154
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with MSC: view
genes like me logo Genes that share phenotypes with MSC: view

Animal Models for MSC Gene

MGI Knock Outs for MSC:

miRNA Products

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

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

Localization for MSC Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSC Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MSC Gene COMPARTMENTS Subcellular localization image for MSC gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for MSC Gene

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

Pathways & Interactions for MSC Gene

SuperPathways for MSC Gene

Superpath Contained pathways
1 Id Signaling Pathway
genes like me logo Genes that share pathways with MSC: view

Pathways by source for MSC Gene

1 BioSystems pathway for MSC Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 9584154
GO:0014707 branchiomeric skeletal muscle development IEA --
GO:0060021 palate development IEA --
GO:0060539 diaphragm development IEA --
genes like me logo Genes that share ontologies with MSC: view

No data available for SIGNOR curated interactions for MSC Gene

Drugs & Compounds for MSC Gene

No Compound Related Data Available

Transcripts for MSC Gene

mRNA/cDNA for MSC Gene

Unigene Clusters for MSC Gene

Musculin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

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

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MSC Gene

GeneLoc Exon Structure for
MSC
ECgene alternative splicing isoforms for
MSC

Expression for MSC Gene

mRNA expression in normal human tissues for MSC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Artery - Coronary (x8.0) and Artery - Aorta (x4.8).

Protein differential expression in normal tissues from HIPED for MSC Gene

This gene is overexpressed in Adipocyte (69.0).

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



SOURCE GeneReport for Unigene cluster for MSC Gene Hs.442619

mRNA Expression by UniProt/SwissProt for MSC Gene

O60682-MUSC_HUMAN
Tissue specificity: Expressed in lymphoid tissues, B-cell lines and activated B-cells
genes like me logo Genes that share expression patterns with MSC: view

Protein tissue co-expression partners for MSC Gene

Primer Products

In Situ Assay Products

Orthologs for MSC Gene

This gene was present in the common ancestor of animals.

Orthologs for MSC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MSC 35
  • 90.69 (n)
  • 94.42 (a)
MSC 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MSC 35
  • 88.38 (n)
  • 90.91 (a)
MSC 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Msc 35
  • 83.75 (n)
  • 84.58 (a)
Msc 16
Msc 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MSC 35
  • 98.46 (n)
  • 97.95 (a)
MSC 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Msc 35
  • 85.39 (n)
  • 87.68 (a)
oppossum
(Monodelphis domestica)
Mammalia MSC 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSC 35
  • 76.95 (n)
  • 77.71 (a)
MSC 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MSC 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msc 35
  • 67.42 (n)
  • 71.02 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC556396 35
  • 71.21 (n)
  • 78.18 (a)
MSC 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta HLH54F 36
  • 20 (a)
OneToMany
Species with no ortholog for MSC:
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MSC Gene

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

Paralogs for MSC Gene

Paralogs for MSC Gene

(1) SIMAP similar genes for MSC Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MSC: view

Variants for MSC Gene

Sequence variations from dbSNP and Humsavar for MSC Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs184499414 -- 71,841,070(+) GAAAA(G/T)CACCG downstream-variant-500B
rs547093076 -- 71,841,112(+) TTTTA(C/T)TCTGC downstream-variant-500B
rs749251846 -- 71,841,085(+) AATAC(A/G)AATTG downstream-variant-500B
rs772824062 -- 71,841,075(+) GCACC(A/G)TTGAA downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
esv2737154 CNV Deletion 23290073
nsv831353 CNV Loss 17160897
esv33409 CNV Loss 17666407

Variation tolerance for MSC Gene

Residual Variation Intolerance Score: 51.68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MSC Gene

HapMap Linkage Disequilibrium report
MSC
Human Gene Mutation Database (HGMD)
MSC

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

Disorders for MSC Gene

Relevant External Links for MSC

Genetic Association Database (GAD)
MSC
Human Genome Epidemiology (HuGE) Navigator
MSC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MSC
genes like me logo Genes that share disorders with MSC: view

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

Publications for MSC Gene

  1. Assignment of the human helix-loop-helix transcription factor gene musculin/activated B-cell factor-1 (MSC) to chromosome 8q21 and its mouse homologue (Msc) to the proximal region of chromosome 1. (PMID: 10198176) Robb L. … Harvey R.P. (Genomics 1999) 2 23 67
  2. Characterization of ABF-1, a novel basic helix-loop-helix transcription factor expressed in activated B lymphocytes. (PMID: 9584154) Massari M.E. … Murre C. (Mol. Cell. Biol. 1998) 2 23 67
  3. MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. (PMID: 19299559) Yang Z. … Tapscott S.J. (Genes Dev. 2009) 23 67
  4. Two ferritin subunits from disk abalone (Haliotis discus discus): cloning, characterization and expression analysis. (PMID: 17442591) De Zoysa M. … Lee J. (Fish Shellfish Immunol. 2007) 23 67
  5. Hypothesis: Musculin is a hormone secreted by skeletal muscle, the body's largest endocrine organ. Evidence for actions on the endocrine pancreas to restrain the beta-cell mass and to inhibit insulin secretion and on the hypothalamus to co-ordinate the neuroendocrine and appetite responses to exercise. (PMID: 17465332) Engler D. (Acta Biomed 2007) 23 67

Products for MSC Gene

Sources for MSC Gene

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