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    Runx2 runt related transcription factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 12393, updated on 24-Sep-2024

    Summary

    Official Symbol
    Runx2provided by MGI
    Official Full Name
    runt related transcription factor 2provided by MGI
    Primary source
    MGI:MGI:99829
    See related
    Ensembl:ENSMUSG00000039153 AllianceGenome:MGI:99829
    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
    Also known as
    Cbf; LS3; AML3; Osf2; Cbfa1; Cbfa-1; PEBP2aA; Pebp2a1; Pebpa2a; CBF-alpha-1
    Summary
    This gene encodes a member of the runt domain-containing family of transcription factors. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Sep 2015]
    Expression
    Broad expression in limb E14.5 (RPKM 6.0), ovary adult (RPKM 5.0) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Runx2 in Genome Data Viewer
    Location:
    17 B3; 17 21.33 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (44806873..45125518, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (44495987..44814797, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 34917 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 4 Neighboring gene chloride intracellular channel 5 Neighboring gene STARR-seq mESC enhancer starr_42608 Neighboring gene STARR-positive B cell enhancer ABC_E5611 Neighboring gene STARR-seq mESC enhancer starr_42609 Neighboring gene STARR-seq mESC enhancer starr_42610 Neighboring gene STARR-seq mESC enhancer starr_42611 Neighboring gene STARR-seq mESC enhancer starr_42612 Neighboring gene STARR-seq mESC enhancer starr_42613 Neighboring gene runt related transcription factor 2, opposite strand 3 Neighboring gene VISTA enhancer mm924 Neighboring gene STARR-seq mESC enhancer starr_42614 Neighboring gene VISTA enhancer mm657 Neighboring gene Runx2 P2 promoter Neighboring gene Runx2 P1 promoter region Neighboring gene RIKEN cDNA 4930564C03 gene Neighboring gene SPT3, SAGA and STAGA complex component Neighboring gene predicted gene, 52304

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data 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 ATP binding IEA
    Inferred from Electronic Annotation
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    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 IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables bHLH transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables general transcription initiation factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone deacetylase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within T cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell maturation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cell maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of cell population proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cell population proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within chondrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chondrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within chondrocyte differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within embryonic forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endochondral ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_positive_effect gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hemopoiesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ligamentous ossification IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ossification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within osteoblast development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within osteoblast differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within osteoblast fate commitment IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of cell population proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of chondrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ossification ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of osteoblast differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of osteoblast differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    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 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 regulation of cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of fibroblast growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to sodium phosphate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    runt-related transcription factor 2
    Names
    AKV core binding factor
    PEA2-alpha A
    PEBP2 alpha A
    SL3-3 enhancer factor 1 alpha A subunit
    acute myeloid leukemia 3 protein
    core binding factor alpha 1
    osteoblast-specific transcription factor 2
    polyomavirus enhancer-binding protein 2 alpha A subunit
    runt domain, alpha subunit 1
    transcription factor Cbfa1/Osf2

    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_001145920.3NP_001139392.1  runt-related transcription factor 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of a proximal promoter. It lacks two alternate exons including the 5' UTR and a portion of the 5' coding region, and initiates translation in an alternate 5' segment, compared to variant 1. The encoded isoform (2, also known as MRIPV) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC165141
      Consensus CDS
      CCDS50116.1
      UniProtKB/TrEMBL
      E0CY45, F8WHN7
      Related
      ENSMUSP00000109202.3, ENSMUST00000113572.9
      Conserved Domains (3) summary
      pfam05109
      Location:259474
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam00853
      Location:95223
      Runt; Runt domain
      pfam08504
      Location:423514
      RunxI; Runx inhibition domain
    2. NM_001146038.3NP_001139510.1  runt-related transcription factor 2 isoform 1

      See identical proteins and their annotated locations for NP_001139510.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents use of a distal promoter. It encodes the longest isoform (1, also called MASNS).
      Source sequence(s)
      AC165141, AL672242
      Consensus CDS
      CCDS37624.2
      UniProtKB/TrEMBL
      E9PUK7
      Related
      ENSMUSP00000109201.4, ENSMUST00000113571.10
      Conserved Domains (2) summary
      pfam00853
      Location:116237
      Runt; Runt domain
      pfam08504
      Location:437528
      RunxI; Runx inhibition domain
    3. NM_001271627.2NP_001258556.1  runt-related transcription factor 2 isoform 1

      See identical proteins and their annotated locations for NP_001258556.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents use of a distal promoter. It has an additional segment in 5' UTR and encodes the same isoform 1, compared to variant 1. This variant is reported in PMID: 9238031.
      Source sequence(s)
      AC165141, AL672242
      Consensus CDS
      CCDS37624.2
      UniProtKB/TrEMBL
      E9PUK7
      Related
      ENSMUSP00000124918.2, ENSMUST00000159943.8
      Conserved Domains (2) summary
      pfam00853
      Location:116237
      Runt; Runt domain
      pfam08504
      Location:437528
      RunxI; Runx inhibition domain
    4. NM_001271630.2NP_001258559.1  runt-related transcription factor 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents use of a proximal promoter. It lacks two alternate exons including the 5' UTR and a portion of the 5' coding region, initiates translation in an alternate 5' segment, and lacks an internal in-frame coding exon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC165141
      UniProtKB/TrEMBL
      E0CY45
      Conserved Domains (2) summary
      pfam00853
      Location:102222
      Runt; Runt domain
      pfam08504
      Location:365456
      RunxI; Runx inhibition domain
    5. NM_001271631.2NP_001258560.1  runt-related transcription factor 2 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) represents use of a proximal promoter. It lacks two alternate exons including the 5' UTR and a portion of the 5' coding region, initiates translation in an alternate 5' segment, and lacks two internal in-frame coding exons, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC165141
      Consensus CDS
      CCDS70815.1
      UniProtKB/TrEMBL
      E0CY45, E0CZ12
      Related
      ENSMUSP00000123707.2, ENSMUST00000162878.8
      Conserved Domains (2) summary
      pfam00853
      Location:102186
      Runt; Runt domain
      pfam08504
      Location:330421
      RunxI; Runx inhibition domain
    6. NM_009820.6NP_033950.2  runt-related transcription factor 2 isoform 1

      See identical proteins and their annotated locations for NP_033950.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents use of a distal promoter. It lacks a segment in 5' UTR and encodes the same isoform 1, compared to variant 1.
      Source sequence(s)
      AC165141, AL672242
      Consensus CDS
      CCDS37624.2
      UniProtKB/TrEMBL
      E9PUK7
      Related
      ENSMUSP00000123743.2, ENSMUST00000160673.8
      Conserved Domains (2) summary
      pfam00853
      Location:116237
      Runt; Runt domain
      pfam08504
      Location:437528
      RunxI; Runx inhibition domain

    RNA

    1. NR_073392.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) represents use of a distal promoter. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC165141, AL672242
    2. NR_073425.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) represents use of a proximal promoter. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC165141, AL672229
      Related
      ENSMUST00000162816.8

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      44806873..45125518 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001271633.1: Suppressed sequence

      Description
      NM_001271633.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.