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

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: human all
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Genomic context

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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Runx2 deletion in hypertrophic chondrocytes impairs osteoclast mediated bone resorption.
Title: Runx2 deletion in hypertrophic chondrocytes impairs osteoclast mediated bone resorption.
FTO-mediated m6A mRNA demethylation aggravates renal fibrosis by targeting RUNX1 and further enhancing PI3K/AKT pathway.
Title: FTO-mediated m6A mRNA demethylation aggravates renal fibrosis by targeting RUNX1 and further enhancing PI3K/AKT pathway.
Runx2 heterozygosity alters homeostasis of the periodontal complex.
Title: Runx2 heterozygosity alters homeostasis of the periodontal complex.
BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.
Title: BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation.
The N6-methyladenosine demethylase FTO is required for odontoblast differentiation in vitro and dentine formation in mice by promoting RUNX2 exon 5 inclusion through RBM4.
Title: The N6-methyladenosine demethylase FTO is required for odontoblast differentiation in vitro and dentine formation in mice by promoting RUNX2 exon 5 inclusion through RBM4.
RUNX2 promotes the suppression of osteoblast function and enhancement of osteoclast activity by multiple myeloma cells.
Title: RUNX2 promotes the suppression of osteoblast function and enhancement of osteoclast activity by multiple myeloma cells.
Glutathione limits RUNX2 oxidation and degradation to regulate bone formation.
Title: Glutathione limits RUNX2 oxidation and degradation to regulate bone formation.
HnRNP A1 Suppresses the Odontogenic Differentiation and the Inclusion of RUNX2 Exon 5 of Dental Mesenchymal Cells.
Title: HnRNP A1 Suppresses the Odontogenic Differentiation and the Inclusion of RUNX2 Exon 5 of Dental Mesenchymal Cells.
Runx2 activates hepatic stellate cells to promote liver fibrosis via transcriptionally regulating Itgav expression.
Title: Runx2 activates hepatic stellate cells to promote liver fibrosis via transcriptionally regulating Itgav expression.
The calcium channel Orai1 is required for osteoblast development: Studies in a chimeric mouse with variable in vivo Runx-cre deletion of Orai-1.
Title: The calcium channel Orai1 is required for osteoblast development: Studies in a chimeric mouse with variable in vivo Runx-cre deletion of Orai-1.

Submit: New GeneRIF Correction See all GeneRIFs (497)

Variation

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Alleles

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

Transposon induced (1) 1 citation
Targeted (16) 1 citation
Endonuclease-mediated (6)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC150810P1 (e-PCR)
- UniSTS:271104

Runx2 (e-PCR), detects polymorphism
- UniSTS:281111

PMC156282P1 (e-PCR)
- UniSTS:271389

NoName (e-PCR)
- UniSTS:548171

Runx2 (e-PCR), detects polymorphism
- UniSTS:280406

Runx2 (e-PCR), detects polymorphism
- UniSTS:463221

Runx2 (e-PCR), detects polymorphism
- UniSTS:463222

Runx2 (e-PCR), detects polymorphism
- UniSTS:547959

AF029259 (e-PCR)
- UniSTS:32376

Runx2 (e-PCR), detects polymorphism
- UniSTS:547729

RH124604 (e-PCR)
- UniSTS:161426

D17Mit137 (e-PCR), detects polymorphism
- UniSTS:127965

Runx2 (e-PCR), detects polymorphism
- UniSTS:547303

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

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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)

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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)

NM_001145920.3 → NP_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:259 → 474

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

pfam00853
Location:95 → 223

Runt; Runt domain

pfam08504
Location:423 → 514

RunxI; Runx inhibition domain
NM_001146038.3 → NP_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:116 → 237

Runt; Runt domain

pfam08504
Location:437 → 528

RunxI; Runx inhibition domain
NM_001271627.2 → NP_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:116 → 237

Runt; Runt domain

pfam08504
Location:437 → 528

RunxI; Runx inhibition domain
NM_001271630.2 → NP_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:102 → 222

Runt; Runt domain

pfam08504
Location:365 → 456

RunxI; Runx inhibition domain
NM_001271631.2 → NP_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:102 → 186

Runt; Runt domain

pfam08504
Location:330 → 421

RunxI; Runx inhibition domain
NM_009820.6 → NP_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:116 → 237

Runt; Runt domain

pfam08504
Location:437 → 528

RunxI; Runx inhibition domain

RNA

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
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

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

NM_001271633.1: Suppressed sequence

Description

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