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Gene Detail
runt related transcription factor 2
Synonyms AML3, Cbfa1, Osf2, PEBP2aA, PEBP2 alpha A, Pebpa2a, polyomavirus enhancer binding factor 2 (PEBP2), SL3-3 enhancer factor 1
Feature Type protein coding gene
Genetic Map
Chromosome 17
21.33 cM
Detailed Genetic Map ± 1 cM

Mapping data(4)
Sequence Map
Chr17:44495987-44814797 bp, - strand
From VEGA annotation of GRCm38

  318811 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
HomoloGene:68389  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: runt-related transcription factor RUNX
Gene Tree: Runx2

Human Homolog RUNX2, runt-related transcription factor 2
NCBI Gene ID 860
neXtProt AC  NX_Q13950
Human Synonyms  AML3, CBFA1, CBF-alpha-1, CCD, CCD1, CLCD, OSF2, OSF-2, PEA2aA, PEBP2aA
Human Chr (Location)  6p21; chr6:45328317-45551082 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human RUNX2
alleles, and
All mutations/alleles(11) : Gene trapped(1) Targeted(9) Transposon induced(1)
Incidental mutations (data from Mutagenetix , APF )
Mice homozygous for a null allele exhibit neonatal lethality, decreased body weight, abnormal hematopoiesis, and skeletal abnormalities.
Human Diseases Modeled Using Mouse Runx2 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(6)
Runx2 interacts with 406 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
All GO classifications: (80 annotations)
Process BMP signaling pathway, cell maturation, ...
Component cytoplasm, nuclear chromatin, ...
Function ATP binding, bHLH transcription factor binding, ...
External Resources: FuncBase
Literature Summary: (257 records)
Data Summary: Results (760)    Tissues (381)    Images (171)
Theiler Stages: 2, 3, 4, 5, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 25
RNA in situ 600
In situ reporter (knock in) 24
Northern blot 34
Western blot 2
Nuclease S1 14
cDNA source data(37)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(66) Genomic(3) cDNA(42) Primer pair(11) Other(10)
Microarray probesets(8)
Other database
VEGA Gene ModelOTTMUSG00000033514 (Evidence)
Ensembl Gene ModelENSMUSG00000039153 (Evidence)
Entrez Gene12393 (Evidence)
DFCITC1588578, TC1589716, TC1591870, TC1605225, TC1708154
NIA Mouse Gene IndexU037830
Consensus CDS ProjectCCDS37624.2, CCDS50116.1, CCDS70815.1
International Mouse Knockout Project StatusRunx2
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033514 VEGA Gene Model | MGI Sequence Detail 318811 C57BL/6J ±  kb
transcript OTTMUST00000084307 VEGA | MGI Sequence Detail 1791 Not Applicable 
polypeptide OTTMUSP00000045414 VEGA | MGI Sequence Detail 596 Not Applicable 

For the selected sequences
All sequences(130) RefSeq(37) UniProt(11)
Polymorphisms RFLP(3) : SNPs within 2kb(1334 from dbSNP Build 137)
InterPro IPR000040 Acute myeloid leukemia 1 protein (AML1)/Runt
InterPro IPR019087 Mediator complex, subunit Med15, metazoa
InterPro IPR008967 p53-like transcription factor, DNA-binding
InterPro IPR012346 p53/RUNT-type transcription factor, DNA-binding domain
InterPro IPR013524 Runt domain
InterPro IPR016554 Runt-related transcription factor RUNX
InterPro IPR027384 Runx, central domain
InterPro IPR013711 Runx, C-terminal domain
Protein Ontology PR:000014364 runt-related transcription factor 2
References (Earliest) J:4171 Suzow J, et al., The murine myeloperoxidase promoter contains several functional elements, one of which binds a cell type-restricted transcription factor, myeloid nuclear factor 1 (MyNF1). Mol Cell Biol. 1993 Apr;13(4):2141-51
(Latest) J:212417 Satpathy AT, et al., Runx1 and Cbfbeta regulate the development of Flt3+ dendritic cell progenitors and restrict myeloproliferative disorder. Blood. 2014 May 8;123(19):2968-77
All references(411)
Disease annotation references (6)
accession IDs
MGD-MRK-16616, MGD-MRK-1777, MGD-MRK-33692

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.19
The Jackson Laboratory