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

Summary

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Official Symbol: Runx2provided by MGI
Official Full Name: runt related transcription factor 2provided by MGI
Primary source: MGI:99829
See related: Ensembl:ENSMUSG00000039153; Vega:OTTMUSG00000033514
Gene type: protein coding
RefSeq status: VALIDATED
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

Genomic context

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Location :: 17 B3; 17 21.33 cM

Sequence :: Chromosome: 17; NC_000083.6 (44604001..44814797, complement)

See Runx2 in Epigenomics, MapViewer

Chromosome 17 - NC_000083.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

long periods of intermittent traction stretch promote osteoblastic differentiation of BMSCs through the ERK1/2-activated Cbfa1 signaling pathway.
Title: Intermittent traction stretch promotes the osteoblastic differentiation of bone mesenchymal stem cells by the ERK1/2-activated Cbfa1 pathway.
Runx2 protein represses Axin2 expression in osteoblasts and is required for craniosynostosis in Axin2-deficient mice
Title: Runx2 protein represses Axin2 expression in osteoblasts and is required for craniosynostosis in Axin2-deficient mice.
RUNX2 expression was associated with increased Bcl-2 levels.
Title: Bicalutamide-induced hypoxia potentiates RUNX2-mediated Bcl-2 expression resulting in apoptosis resistance.
These results suggest that the JNK/AP-1 and ERK/Runx2 signaling pathways mediate TNF-alpha-dependent Smurf1 transcription.
Title: Tumor necrosis factor-α enhances the transcription of Smad ubiquitination regulatory factor 1 in an activating protein-1- and Runx2-dependent manner.
Down-regulation of miR-204 may contribute to beta-glycerophosphate-induced vascular smooth muscle cell calcification through regulating Runx2.
Title: MicroRNA-204 regulates vascular smooth muscle cell calcification in vitro and in vivo.
The findings suggest that Runx2 haploinsufficiency might result in excessive unbound Twist1 that can freely bind to E12 and enhance FGF signaling, thereby promoting the formation of extra teeth.
Title: Molecular studies on the roles of Runx2 and Twist1 in regulating FGF signaling.
Fluoride and aluminum increased expression of RUNX2 and Osterix, and promoted proliferation and differentiation of osteoblastic cells.
Title: [Combined effect of fluoride and aluminum on the expression of Runx2 and Osterix mRNA in MC3T3-E1 cells].
results support the emerging concept that the osteogenic transcription factor RUNX2 functions as a metastasis-related oncoprotein in non-osseous cancer cells
Title: Cancer-related ectopic expression of the bone-related transcription factor RUNX2 in non-osseous metastatic tumor cells is linked to cell proliferation and motility.
in vivo role of Runx2 in the development of ossification of the posterior longitudinal ligament
Title: Runx2 haploinsufficiency ameliorates the development of ossification of the posterior longitudinal ligament.
The results indicated that the Runx2 P1 promoter uses two stable principal protein/DNA interaction domains associated with AP1 and HLH factors. These sites function together to support epigenetic control of bone-specific transcription.
Title: Genomic occupancy of HLH, AP1 and Runx2 motifs within a nuclease sensitive site of the Runx2 gene.

Submit: New GeneRIF Correction See all (279)

Alleles

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

Targeted (knock-out) (3) 1 citation
Transposon induced (1) 1 citation
Targeted (Reporter) (1) 1 citation
Targeted (knock-in) (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
AAB82419.1	NP_033055.1	Rb1	BIND	PubMed	pRb interacts with CBFA1.
AAB82419.1	NP_035380.2	Rbl2	BIND	PubMed	p130 interacts with CBFA1. This interaction was modeled on a demonstrated interaction between human p130, and mouse CBFA1.
NP_033950.1	NP_997108.1	Hdac4	BIND	PubMed	HDAC4 interacts with Runx2.
NP_033950.1	NC_000083.1	Runx2	BIND	PubMed	Runx2 interacts with the Runx2 promoter.
BioGRID:198518	BioGRID:198525	Cbfb	BioGRID	PubMed	Two-hybrid
BioGRID:198518	BioGRID:200261	Hdac3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:229009	Hdac4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:201393	Men1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:201537	Msx2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:198518	BioGRID:202815	Rb1	BioGRID	PubMed	Two-hybrid
BioGRID:198518	BioGRID:202820	Rbl2	BioGRID	PubMed	Two-hybrid
BioGRID:198518	BioGRID:229351	Satb2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:201274	Smad1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:201279	Smad6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:217743	Smurf1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:198518	BioGRID:211745	Taz	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:204216	Tle1	BioGRID	PubMed	Reconstituted Complex
BioGRID:198518	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:204403	Ubc	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:246986	Vdr	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:219796	Wwox	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:230369	Zfp521	BioGRID	PubMed	Affinity Capture-Western
BioGRID:198518	BioGRID:78317	vdra	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Androgen Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
Androgen Receptor Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
Endochondral Ossification, organism-specific biosystem (from WikiPathways)
Endochondral Ossification, organism-specific biosystem
Endochondral Ossification
Gene Expression, organism-specific biosystem (from REACTOME)
Gene Expression, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
Generic Transcription Pathway, organism-specific biosystemcomputationally inferred pathway (not manually curated)
TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
TGF Beta Signaling Pathway, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
TGF-beta Receptor Signaling Pathway, organism-specific biosystem
TGF-beta Receptor Signaling Pathway
Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
Transcriptional misregulation in cancer, organism-specific biosystem
Transcriptional misregulation in cancer
Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
Transcriptional misregulation in cancer, conserved biosystem
Transcriptional misregulation in cancer
Wnt Signaling Pathway NetPath, organism-specific biosystem (from WikiPathways)
Wnt Signaling Pathway NetPath, organism-specific biosystemWnt family of proteins are a large family of cysteine-rich secreted glycoproteins that regulate cell-cell interactions. They bind to members of the Frizzled family of 7 transmembrane receptors. Bindi...
YAP1- and WWTR1 (TAZ)-stimulated gene expression, organism-specific biosystem (from REACTOME)
YAP1- and WWTR1 (TAZ)-stimulated gene expression, organism-specific biosystemcomputationally inferred pathway (not manually curated)

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

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

Homology

Homologs of the Runx2 gene: The Runx2 gene is conserved in human, chimpanzee, Rhesus monkey, cow, rat, chicken, zebrafish, and C.elegans.
Map Viewer (Human, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

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
bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
chromatin binding	IDA Inferred from Direct Assay more info	PubMed
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
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
sequence-specific DNA binding transcription factor activity	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

Process	Evidence Code	Pubs
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
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
embryonic cranial skeleton morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
embryonic forelimb morphogenesis	IMP Inferred from Mutant Phenotype more info
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-dependent	IDA Inferred from Direct Assay more info	PubMed
negative regulation of transcription, DNA-dependent	ISO Inferred from Sequence Orthology 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 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, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	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
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
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-dependent	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
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	ISO Inferred from Sequence Orthology more info
transcription factor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: runt-related transcription factor 2

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

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_001145920.2 → 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

F8WHN7

Related

ENSMUSP00000109202, OTTMUSP00000045415, ENSMUST00000113572, OTTMUST00000084308

Conserved Domains (2) summary

pfam00853
Location:93 – 226
Blast Score: 692

Runt; Runt domain

pfam08504
Location:437 – 514
Blast Score: 283

RunxI; Runx inhibition domain
NM_001146038.2 → NP_001139510.1 runt-related transcription factor 2 isoform 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, AF010284, AF020681

Consensus CDS

CCDS37624.2

UniProtKB/Swiss-Prot

Q08775

UniProtKB/TrEMBL

Q9Z2T9

Related

ENSMUSP00000109201, ENSMUST00000113571

Conserved Domains (2) summary

pfam00853
Location:107 – 240
Blast Score: 695

Runt; Runt domain

pfam08504
Location:451 – 528
Blast Score: 283

RunxI; Runx inhibition domain
NM_001271627.1 → NP_001258556.1 runt-related transcription factor 2 isoform 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

UniProtKB/Swiss-Prot

Q08775

Conserved Domains (2) summary

pfam00853
Location:107 – 240
Blast Score: 695

Runt; Runt domain

pfam08504
Location:451 – 528
Blast Score: 283

RunxI; Runx inhibition domain
NM_001271630.1 → 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

Conserved Domains (2) summary

pfam00853
Location:93 – 225
Blast Score: 686

Runt; Runt domain

pfam08504
Location:379 – 456
Blast Score: 287

RunxI; Runx inhibition domain
NM_001271631.1 → 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, AK089291, AK158925

UniProtKB/TrEMBL

E0CZ12

Conserved Domains (2) summary

pfam00853
Location:93 – 186
Blast Score: 485

Runt; Runt domain

pfam08504
Location:344 – 421
Blast Score: 283

RunxI; Runx inhibition domain
NM_009820.5 → NP_033950.2 runt-related transcription factor 2 isoform 1

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, AF010284

Consensus CDS

CCDS37624.2

UniProtKB/Swiss-Prot

Q08775

Conserved Domains (2) summary

pfam00853
Location:107 – 240
Blast Score: 695

Runt; Runt domain

pfam08504
Location:451 – 528
Blast Score: 283

RunxI; Runx inhibition domain

RNA

NR_073392.1 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, DQ458792
NR_073425.1 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)

AK158925

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

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

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000083.6 Reference GRCm38.p1 C57BL/6J

Range

44604001..44814797, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000039.1 Alternate Mm_Celera

Range

48040272..48252046, 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.

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01132889.1 (35839..70928)	None
genomic	AAHY01132890.1	None
genomic	AAHY01132891.1	None
genomic	AAHY01132892.1	None
genomic	AAHY01132893.1	None
genomic	AAHY01132894.1	None
genomic	AAHY01132895.1	None
genomic	AAHY01132896.1	None
genomic	AAHY01132897.1	None
genomic	AAHY01132898.1	None
genomic	AAHY01132899.1	None
genomic	AAHY01132900.1	None
genomic	AAHY01132901.1	None
genomic	AAHY01132902.1	None
genomic	AAHY01132903.1	None
genomic	AB013129.1	BAA85345.1
		BAA85346.1
genomic	AC165141.4 (30797..187883)	None
genomic	AF053948.1	AAC77440.1
genomic	AF134836.1	AAF22568.1
		AAF22569.1
genomic	AL672242.12 (22559..76280)	None
genomic	CAAA01007903.1	None
genomic	CH466559.1	EDL23422.1	mixed
mRNA	AF005936.1	AAB82419.1
mRNA	AF010284.1	AAB65409.1	C57BL/6
mRNA	AF020681.1	AAD01649.1
mRNA	AF053951.1	AAC78623.1
mRNA	AF053954.1	None
mRNA	AF053955.1	None
mRNA	AF053956.1	AAC78626.1
mRNA	AK089291.1	None	C57BL/6J
mRNA	AK134925.1	None	C57BL/6J
mRNA	AK137061.1	None	C57BL/6J
mRNA	AK143355.1	None	C57BL/6J
mRNA	AK158925.1	None	C57BL/6J
mRNA	AK162373.1	None	C57BL/6J
mRNA	AK164454.1	None	C57BL/6J
mRNA	D14636.1	BAA03485.1
mRNA	D14637.1	BAA03486.1
mRNA	DQ458792.1	ABE68713.1	C57BL/6J
other-genetic	BC172607.1	AAI72607.1
other-genetic	BC172715.1	AAI72715.1