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

Gene ID: 12393, updated on 8-May-2016
Official Symbol
Runx2provided by MGI
Official Full Name
runt related transcription factor 2provided by MGI
Primary source
MGI:MGI:99829
See related
Ensembl:ENSMUSG00000039153 Vega:OTTMUSG00000033514
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Cbf; LS3; AML3; Osf2; Cbfa1; Cbfa-1; PEBP2aA; Pebp2a1; Pebpa2a
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]
Orthologs
Location:
17 B3; 17 21.33 cM
Exon count:
11
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 17 NC_000083.6 (44495986..44814831, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 17 NC_000083.5 (44740950..44951746, complement)

Chromosome 17 - NC_000083.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 34917 Neighboring gene chloride intracellular channel 5 Neighboring gene runt related transcription factor 2, opposite strand 3 Neighboring gene runt related transcription factor 2, opposite strand 2 Neighboring gene RIKEN cDNA 4930564C03 gene Neighboring gene suppressor of Ty 3 Neighboring gene predicted gene, 35097

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding IGI
Inferred from Genetic Interaction
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II core promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
histone deacetylase binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
repressing transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor activity, sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor activity, sequence-specific DNA binding TAS
Traceable Author Statement
more info
PubMed 
transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
T cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
cell maturation IGI
Inferred from Genetic Interaction
more info
PubMed 
cell maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
chondrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
chondrocyte differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic cranial skeleton morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
embryonic forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
endochondral ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
odontogenesis of dentin-containing tooth IMP
Inferred from Mutant Phenotype
more info
PubMed 
osteoblast development IGI
Inferred from Genetic Interaction
more info
PubMed 
osteoblast differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
osteoblast fate commitment IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ossification ISO
Inferred from Sequence Orthology
more info
 
positive regulation of osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of osteoblast differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISO
Inferred from Sequence Orthology
more info
 
regulation of fibroblast growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of odontogenesis of dentin-containing tooth IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
stem cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
runt-related transcription factor 2
Names
AKV core binding factor
CBF-alpha-1
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

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

    Status: REVIEWED

    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
    F8WHN7
    Related
    ENSMUSP00000109202, OTTMUSP00000045415, ENSMUST00000113572, OTTMUST00000084308
    Conserved Domains (2) summary
    pfam00853
    Location:92226
    Runt; Runt domain
    pfam08504
    Location:420514
    RunxI; Runx inhibition domain
  2. NM_001146038.2NP_001139510.1  runt-related transcription factor 2 isoform 1

    See identical proteins and their annotated locations for NP_001139510.1

    Status: REVIEWED

    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, AF010284, AF020681
    Consensus CDS
    CCDS37624.2
    UniProtKB/Swiss-Prot
    Q08775
    UniProtKB/TrEMBL
    Q9Z2T9
    Related
    ENSMUSP00000109201, ENSMUST00000113571
    Conserved Domains (2) summary
    pfam00853
    Location:106240
    Runt; Runt domain
    pfam08504
    Location:434528
    RunxI; Runx inhibition domain
  3. NM_001271627.1NP_001258556.1  runt-related transcription factor 2 isoform 1

    See identical proteins and their annotated locations for NP_001258556.1

    Status: REVIEWED

    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/Swiss-Prot
    Q08775
    Related
    ENSMUSP00000124918, OTTMUSP00000045416, ENSMUST00000159943, OTTMUST00000084309
    Conserved Domains (2) summary
    pfam00853
    Location:106240
    Runt; Runt domain
    pfam08504
    Location:434528
    RunxI; Runx inhibition domain
  4. NM_001271630.1NP_001258559.1  runt-related transcription factor 2 isoform 3

    Status: REVIEWED

    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
    Conserved Domains (2) summary
    pfam00853
    Location:92225
    Runt; Runt domain
    pfam08504
    Location:362456
    RunxI; Runx inhibition domain
  5. NM_001271631.1NP_001258560.1  runt-related transcription factor 2 isoform 4

    Status: REVIEWED

    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, AK089291, AK158925
    Consensus CDS
    CCDS70815.1
    UniProtKB/TrEMBL
    E0CZ12
    Related
    ENSMUSP00000123707, OTTMUSP00000045420, ENSMUST00000162878, OTTMUST00000084315
    Conserved Domains (2) summary
    pfam00853
    Location:92186
    Runt; Runt domain
    pfam08504
    Location:327421
    RunxI; Runx inhibition domain
  6. NM_009820.5NP_033950.2  runt-related transcription factor 2 isoform 1

    See identical proteins and their annotated locations for NP_033950.2

    Status: REVIEWED

    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, AF010284
    Consensus CDS
    CCDS37624.2
    UniProtKB/Swiss-Prot
    Q08775
    Conserved Domains (2) summary
    pfam00853
    Location:106240
    Runt; Runt domain
    pfam08504
    Location:434528
    RunxI; Runx inhibition domain

RNA

  1. NR_073392.1 RNA Sequence

    Status: REVIEWED

    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, DQ458792
  2. NR_073425.1 RNA Sequence

    Status: REVIEWED

    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)
    AK158925
    Related
    ENSMUST00000162816, OTTMUST00000084314

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000083.6 Reference GRCm38.p3 C57BL/6J

    Range
    44495986..44814831 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006523542.2XP_006523605.1  

    Conserved Domains (1) summary
    pfam00853
    Location:174308
    Runt; Runt domain
  2. XM_006523541.2XP_006523604.1  

    Conserved Domains (1) summary
    pfam00853
    Location:185319
    Runt; Runt domain
  3. XM_006523546.2XP_006523609.1  

    Conserved Domains (1) summary
    pfam00853
    Location:210343
    Runt; Runt domain
  4. XM_006523540.2XP_006523603.1  

    Conserved Domains (1) summary
    pfam00853
    Location:210344
    Runt; Runt domain
  5. XM_006523545.2XP_006523608.1  

    See identical proteins and their annotated locations for XP_006523608.1

    UniProtKB/Swiss-Prot
    Q08775
    Related
    ENSMUSP00000123743, OTTMUSP00000045414, ENSMUST00000160673, OTTMUST00000084307
    Conserved Domains (2) summary
    pfam00853
    Location:174308
    Runt; Runt domain
    pfam08504
    Location:502596
    RunxI; Runx inhibition domain
  6. XM_006523544.2XP_006523607.1  

    See identical proteins and their annotated locations for XP_006523607.1

    UniProtKB/Swiss-Prot
    Q08775
    Conserved Domains (2) summary
    pfam00853
    Location:185319
    Runt; Runt domain
    pfam08504
    Location:513607
    RunxI; Runx inhibition domain
  7. XM_006523548.2XP_006523611.1  

    Conserved Domains (2) summary
    pfam00853
    Location:210343
    Runt; Runt domain
    pfam08504
    Location:458552
    RunxI; Runx inhibition domain
  8. XM_006523547.2XP_006523610.1  

    Conserved Domains (2) summary
    pfam00853
    Location:210343
    Runt; Runt domain
    pfam08504
    Location:480574
    RunxI; Runx inhibition domain
  9. XM_006523543.2XP_006523606.1  

    Related
    ENSMUSP00000124374, OTTMUSP00000045422, ENSMUST00000162629, OTTMUST00000084317
    Conserved Domains (2) summary
    pfam00853
    Location:210344
    Runt; Runt domain
    pfam08504
    Location:516610
    RunxI; Runx inhibition domain

RNA

  1. XR_385274.2 RNA Sequence

  2. XR_385272.2 RNA Sequence

  3. XR_385271.2 RNA Sequence

  4. XR_385273.2 RNA Sequence

Alternate Mm_Celera

Genomic

  1. AC_000039.1 Alternate Mm_Celera

    Range
    47933342..48252046 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.