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Aliases for MSC Gene

Aliases for MSC Gene

  • Musculin 2 3 3 5
  • 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. 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 TCF21.

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

Enhancers for MSC 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
GH08F071862 1 Ensembl ENCODE 17.6 -20.5 -20500 4.5 PKNOX1 JUN MAX ZBTB48 EED RCOR1 FOS MAFK CHD2 NFIA MSC MSC-AS1 PIR51066 RPS20P20
GH08F071840 1.4 FANTOM5 ENCODE 9.2 +1.0 1049 6.4 HDGF PKNOX1 WRNIP1 SIN3A ZNF2 GLIS2 ZNF143 ZNF207 KLF7 ZNF263 ENSG00000253287 TRAPPC2P2 LOC101926908 MSC MSC-AS1
GH08F071980 0.8 ENCODE 11.3 -136.6 -136628 1.4 PKNOX1 ZNF146 FEZF1 ZIC2 HIC1 CTBP1 ZNF366 MAZ BHLHE40 GFI1B MSC MSC-AS1 ENSG00000200191 RPS20P20 TRPA1
GH08F071856 1.3 FANTOM5 Ensembl ENCODE 6.6 -13.6 -13576 2.4 ZNF501 FEZF1 EBF1 ZNF843 OSR2 JUND SMARCA4 ZNF366 POLR2A FOS MSC PIR51066 RPS20P20
GH08F071994 0.6 ENCODE 11.4 -149.9 -149905 0.2 OSR2 BHLHE40 FEZF1 MAFK ZXDB MSC MSC-AS1 ENSG00000200191 RPS20P20 TRPA1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MSC on UCSC Golden Path with GeneCards custom track

Promoters for MSC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001394150 1096 4001 HDGF PKNOX1 WRNIP1 SIN3A ZNF2 GLIS2 ZNF143 ZNF207 KLF7 ZNF263

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

Genes around MSC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9584154
GO:0003714 transcription corepressor activity TAS 9584154
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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 MSC gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS 9584154
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with MSC: view

Pathways & Interactions for MSC Gene

No Data Available

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter TAS 9584154
GO:0014707 branchiomeric skeletal muscle development IEA --
genes like me logo Genes that share ontologies with MSC: view

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

Transcripts for MSC Gene

mRNA/cDNA for MSC Gene

Unigene Clusters for MSC Gene

Musculin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for MSC Gene

NURSA nuclear receptor signaling pathways regulating expression of MSC Gene:

MSC

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

Orthologs for MSC Gene

This gene was present in the common ancestor of animals.

Orthologs for MSC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MSC 34 35
  • 98.46 (n)
cow
(Bos Taurus)
Mammalia MSC 34 35
  • 90.69 (n)
dog
(Canis familiaris)
Mammalia MSC 34 35
  • 88.38 (n)
rat
(Rattus norvegicus)
Mammalia Msc 34
  • 85.39 (n)
mouse
(Mus musculus)
Mammalia Msc 34 16 35
  • 83.75 (n)
oppossum
(Monodelphis domestica)
Mammalia MSC 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSC 34 35
  • 76.95 (n)
lizard
(Anolis carolinensis)
Reptilia MSC 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msc 34
  • 67.42 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC556396 34
  • 71.21 (n)
MSC 35
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta HLH54F 35
  • 20 (a)
OneToMany
Species where no ortholog for MSC 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)
  • 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
rs10093815 -- 71,841,575(+) ACAGC(A/G)CGttt upstream-variant-2KB, utr-variant-3-prime
rs10101759 -- 71,843,579(+) TGCCC(G/T)GCGCC intron-variant, nc-transcript-variant, upstream-variant-2KB
rs10547473 -- 71,843,049(+) ACACA(-/CG)CACAC intron-variant, upstream-variant-2KB
rs112401915 -- 71,842,263(+) CGAAA(A/G)GCCGG upstream-variant-2KB, utr-variant-3-prime
rs113340792 -- 71,841,798(+) GTCTG(A/G)AGTCG upstream-variant-2KB, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2737154 CNV deletion 23290073
esv33409 CNV loss 17666407
nsv831353 CNV loss 17160897

Variation tolerance for MSC Gene

Residual Variation Intolerance Score: 51.7% 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

Human Gene Mutation Database (HGMD)
MSC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for MSC Gene.

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

Publications for MSC Gene

  1. 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 3 4 22 64
  2. 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 3 22 64
  3. Musculin: a murine basic helix-loop-helix transcription factor gene expressed in embryonic skeletal muscle. (PMID: 9767165) Robb L. … Begley C.G. (Mech. Dev. 1998) 3 4 22 64
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A. … Murray J.C. (PLoS ONE 2010) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for MSC Gene

Sources for MSC Gene

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