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    Tbx5 T-box 5 [ Mus musculus (house mouse) ]

    Gene ID: 21388, updated on 27-Nov-2024

    Summary

    Official Symbol
    Tbx5provided by MGI
    Official Full Name
    T-box 5provided by MGI
    Primary source
    MGI:MGI:102541
    See related
    Ensembl:ENSMUSG00000018263 AllianceGenome:MGI:102541
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in heart development; positive regulation of gap junction assembly; and positive regulation of transcription by RNA polymerase II. Acts upstream of with a positive effect on bundle of His cell to Purkinje myocyte communication by electrical coupling; cell-cell signaling; and regulation of atrial cardiac muscle cell membrane depolarization. Acts upstream of or within several processes, including embryonic forelimb morphogenesis; heart development; and positive regulation of cell population proliferation. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including embryo mesenchyme; eye; genitourinary system; heart; and vena cava. Used to study Holt-Oram syndrome. Human ortholog(s) of this gene implicated in Holt-Oram syndrome. Orthologous to human TBX5 (T-box transcription factor 5). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in limb E14.5 (RPKM 8.8), lung adult (RPKM 8.1) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Tbx5 in Genome Data Viewer
    Location:
    5 F; 5 60.42 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (119934581..120023285)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (119796514..119885220)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene T-box 3, opposite strand 2 Neighboring gene STARR-seq mESC enhancer starr_14227 Neighboring gene STARR-seq mESC enhancer starr_14229 Neighboring gene STARR-seq mESC enhancer starr_14230 Neighboring gene predicted gene, 42017 Neighboring gene predicted gene 5563 Neighboring gene predicted gene, 31773 Neighboring gene predicted gene, 38554

    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)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in animal organ development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within atrial septum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within atrial septum morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in atrioventricular bundle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrioventricular node cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrioventricular node cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within atrioventricular valve morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_positive_effect bundle of His cell to Purkinje myocyte communication by electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within bundle of His development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in bundle of His development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac left ventricle formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cardiac left ventricle formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cardiac muscle cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cardiac muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of cardiac muscle cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_positive_effect cell-cell signaling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cell-cell signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell-cell signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within embryonic forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic forelimb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in embryonic forelimb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within embryonic limb morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within embryonic limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic limb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in embryonic limb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within endocardial cushion development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within forelimb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heart development ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in heart development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within morphogenesis of an epithelium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cardiac muscle cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pattern specification process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within pattern specification process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pericardium development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in pericardium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of positive regulation of cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cardiac muscle cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of cardioblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cardioblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gap junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of secondary heart field cardioblast proliferation 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 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_positive_effect regulation of atrial cardiac muscle cell membrane depolarization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sinoatrial node development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in transdifferentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within ventricular cardiac muscle tissue development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in ventricular septum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-DNA complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-DNA complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    T-box transcription factor TBX5
    Names
    T-box protein 5

    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_011537.3NP_035667.1  T-box transcription factor TBX5

      See identical proteins and their annotated locations for NP_035667.1

      Status: VALIDATED

      Source sequence(s)
      AI413447, BC090639, BX529547
      Consensus CDS
      CCDS19615.1
      UniProtKB/Swiss-Prot
      P70326, Q9R003
      UniProtKB/TrEMBL
      Q5CZX7
      Related
      ENSMUSP00000018407.7, ENSMUST00000018407.10
      Conserved Domains (1) summary
      cd00182
      Location:53241
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      119934581..120023285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530283.3XP_006530346.1  T-box transcription factor TBX5 isoform X2

      See identical proteins and their annotated locations for XP_006530346.1

      UniProtKB/Swiss-Prot
      P70326, Q9R003
      UniProtKB/TrEMBL
      Q5CZX7
      Conserved Domains (1) summary
      cd00182
      Location:53241
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    2. XM_006530282.5XP_006530345.1  T-box transcription factor TBX5 isoform X2

      See identical proteins and their annotated locations for XP_006530345.1

      UniProtKB/Swiss-Prot
      P70326, Q9R003
      UniProtKB/TrEMBL
      Q5CZX7
      Conserved Domains (1) summary
      cd00182
      Location:53241
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    3. XM_006530281.3XP_006530344.1  T-box transcription factor TBX5 isoform X2

      See identical proteins and their annotated locations for XP_006530344.1

      UniProtKB/Swiss-Prot
      P70326, Q9R003
      UniProtKB/TrEMBL
      Q5CZX7
      Conserved Domains (1) summary
      cd00182
      Location:53241
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    4. XM_006530280.1XP_006530343.1  T-box transcription factor TBX5 isoform X2

      See identical proteins and their annotated locations for XP_006530343.1

      UniProtKB/Swiss-Prot
      P70326, Q9R003
      UniProtKB/TrEMBL
      Q5CZX7
      Conserved Domains (1) summary
      cd00182
      Location:53241
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    5. XM_006530279.5XP_006530342.1  T-box transcription factor TBX5 isoform X1

      Conserved Domains (1) summary
      cd00182
      Location:72260
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
    6. XM_011248191.4XP_011246493.1  T-box transcription factor TBX5 isoform X2

      See identical proteins and their annotated locations for XP_011246493.1

      UniProtKB/Swiss-Prot
      P70326, Q9R003
      UniProtKB/TrEMBL
      Q5CZX7
      Conserved Domains (1) summary
      cd00182
      Location:53241
      TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...