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    Scx scleraxis scleraxis bHLH transcription factor [ Mus musculus (house mouse) ]

    Gene ID: 20289, updated on 9-Dec-2024

    Summary

    Official Symbol
    Scxprovided by MGI
    Official Full Name
    scleraxis scleraxis bHLH transcription factorprovided by MGI
    Primary source
    MGI:MGI:102934
    See related
    Ensembl:ENSMUSG00000034161 AllianceGenome:MGI:102934
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Scl; Bhlha41
    Summary
    This gene encodes a basic helix-loop-helix type transcription factor involved in mesoderm and heart valve formation. The encoded protein is expressed during embryonic development of tendons and ligaments. The gene product regulates collagen type I gene expression in cardiac fibroblasts and myofibroblasts, and it may play a role in myocardial remodeling. The protein is expressed in the scar area of the adult heart following myocardial infarction. [provided by RefSeq, Feb 2010]
    Expression
    Biased expression in adrenal adult (RPKM 33.4), limb E14.5 (RPKM 25.3) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Scx in Genome Data Viewer
    Location:
    15 D3; 15 35.92 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (76341594..76343668)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (76457411..76459468)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1912 Neighboring gene testis-specific serine kinase 5 Neighboring gene maestro heat-like repeat family member 1 Neighboring gene microRNA 6954 Neighboring gene block of proliferation 1 Neighboring gene STARR-positive B cell enhancer ABC_E5490 Neighboring gene heat shock factor 1 Neighboring gene diacylglycerol O-acyltransferase 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Sertoli cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cartilage development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to BMP stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to transforming growth factor beta stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in deltoid tuberosity development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryonic skeletal system development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in endochondral ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in face morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in heart valve formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mesoderm formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of collagen biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of collagen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sclerotome development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within skeletal muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tendon cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tendon development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tendon formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tissue homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    basic helix-loop-helix transcription factor scleraxis
    Names
    scleraxis

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_198885.3NP_942588.1  basic helix-loop-helix transcription factor scleraxis

      See identical proteins and their annotated locations for NP_942588.1

      Status: REVIEWED

      Source sequence(s)
      AC157566, AV162294
      Consensus CDS
      CCDS27571.1
      UniProtKB/Swiss-Prot
      Q64124
      UniProtKB/TrEMBL
      Q53ZC3, Q6P6L3
      Related
      ENSMUSP00000043668.8, ENSMUST00000043089.9
      Conserved Domains (1) summary
      cd18951
      Location:76143
      bHLH_TS_scleraxis; basic helix-loop-helix (bHLH) domain found in scleraxis and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      76341594..76343668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520660.5XP_006520723.1  basic helix-loop-helix transcription factor scleraxis isoform X1

      UniProtKB/TrEMBL
      Q6P6L3
      Conserved Domains (1) summary
      cd18951
      Location:76143
      bHLH_TS_scleraxis; basic helix-loop-helix (bHLH) domain found in scleraxis and similar proteins