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

Gene ID: 12393, updated on 21-May-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
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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
  • 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 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 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 differentiation IEA
Inferred from Electronic Annotation
more info
 
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 DNA-templated transcription IEA
Inferred from Electronic Annotation
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
part_of 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.