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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. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

Additional gene information for MSC Gene

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

Genomics for MSC Gene

GeneHancer (GH) Regulatory Elements for MSC Gene

Promoters and enhancers for MSC 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
GH08I071840 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 559.2 +1.0 1049 6.4 HDGF PKNOX1 SMAD1 SIN3A ZNF2 GLIS2 ZNF207 ZNF143 KLF7 RUNX3 MSC PIR51066 MSC-AS1
GH08I071862 Enhancer 1.1 Ensembl ENCODE dbSUPER 17.6 -20.5 -20500 4.5 JUN MAX CEBPB CEBPG EP300 NR2F2 JUND MAFF ZBTB48 IKZF1 MSC MSC-AS1 PIR51066 RPS20P20
GH08I071980 Enhancer 0.8 ENCODE 11.4 -136.6 -136627 1.4 PKNOX1 MZF1 FEZF1 ZNF335 ZNF366 ZNF214 CEBPB ZEB2 ZNF488 TSHZ1 MSC MSC-AS1 ENSG00000200191 RPS20P20 TRPA1 GC08M071877
GH08I071856 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 6.6 -13.6 -13576 2.4 EBF1 FEZF1 BATF ZNF366 POLR2A FOSL2 FOS RUNX3 ZNF189 ZNF501 MSC PIR51066 MSC-AS1 RPS20P20
GH08I071853 Enhancer 1.1 Ensembl ENCODE dbSUPER 6.2 -10.4 -10422 2 JUN FOSL1 ZNF335 POLR2A NFYB PRDM10 FOSL2 FOS ZNF600 ZNF10 ENSG00000200191 MSC PIR51066 MSC-AS1 RPS20P20
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MSC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MSC gene promoter:

Genomic Locations for MSC Gene

Genomic Locations for MSC Gene
chr8:71,841,542-71,844,496
(GRCh38/hg38)
Size:
2,955 bases
Orientation:
Minus strand
chr8:72,753,777-72,756,731
(GRCh37/hg19)

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

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

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

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

No data available for UniProtKB/Swiss-Prot for MSC Gene

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.

Phenotypes From GWAS Catalog for MSC Gene

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 DNA binding transcription factor activity 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

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MSC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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 by RNA polymerase II IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II 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

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:

Inhibitory RNA Products

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for MSC Gene

  • Muscle(4.3)
  • Nervous system(2.6)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with MSC: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MSC Gene

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 33 34
  • 98.46 (n)
cow
(Bos Taurus)
Mammalia MSC 33 34
  • 90.69 (n)
dog
(Canis familiaris)
Mammalia MSC 33 34
  • 88.38 (n)
rat
(Rattus norvegicus)
Mammalia Msc 33
  • 85.39 (n)
mouse
(Mus musculus)
Mammalia Msc 33 16 34
  • 83.75 (n)
oppossum
(Monodelphis domestica)
Mammalia MSC 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSC 34 33
  • 76.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MSC 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msc 33
  • 67.42 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC556396 33
  • 71.21 (n)
MSC 34
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta HLH54F 34
  • 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 Variation AA Info Type
rs1000064036 -- 71,844,498(-) A/C upstream_transcript_variant
rs1000525369 -- 71,845,533(-) A/C upstream_transcript_variant
rs1000536480 -- 71,844,698(-) G/A upstream_transcript_variant
rs1001391692 -- 71,844,864(-) G/T upstream_transcript_variant
rs1001564540 -- 71,845,324(-) T/C upstream_transcript_variant

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)

Additional Variant Information for MSC Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MSC Gene

Additional Disease Information for MSC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 ME … Murre C (Molecular and cellular biology 1998) 2 3 4 22 58
  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 RP (Genomics 1999) 2 3 22 58
  3. musculin: a murine basic helix-loop-helix transcription factor gene expressed in embryonic skeletal muscle. (PMID: 9767165) Robb L … Begley CG (Mechanisms of development 1998) 3 4 22 58
  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 JC (PloS one 2010) 3 44 58
  5. Allele-specific repression of lymphotoxin-alpha by activated B cell factor-1. (PMID: 15052269) Knight JC … Kwiatkowski DP (Nature genetics 2004) 3 22 58

Products for MSC Gene

Sources for MSC Gene

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