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Runx2
Gene Detail
Symbol

Name
ID
Runx2
runt related transcription factor 2
MGI:99829
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
Vertebrate
homology
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

HCOP human homology predictions: RUNX2
Protein SuperFamily: runt-related transcription factor RUNX
Gene Tree: Runx2

Human
homologs
RUNX2, runt-related transcription factor 2
Orthology source: HomoloGene

IDs:
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; chr6:45327800-45664032 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human RUNX2

Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(1) Targeted(11) Transposon induced(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a null allele exhibit neonatal lethality, decreased body weight, abnormal hematopoiesis, and skeletal abnormalities.
 
Human Diseases Modeled in Mice Using Runx2 (1)    Mutations Annotated to Human Diseases (3)    Phenotype Images(6)
Interactions
Runx2 interacts with 406 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (83 annotations)
Process BMP signaling pathway, cell maturation, ...
Component cytoplasm, nuclear chromatin, ...
Function ATP binding, bHLH transcription factor binding, ...
External Resources: FuncBase
Expression
Literature Summary: (281 records)
Data Summary: Results (768)    Tissues (385)    Images (171)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 25
RNA in situ 604
In situ reporter (knock in) 24
Northern blot 34
Western blot 2
RT-PCR 65
Nuclease S1 14
cDNA source data(37)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA RUNX2 ; Xenbase runx2 ; ZFIN runx2a, runx2b    NEW 
Molecular
reagents
All nucleic(68) Genomic(3) cDNA(42) Primer pair(12) Other(11)
Microarray probesets(8)
Other database
links
VEGA Gene Model OTTMUSG00000033514 (Evidence)
Ensembl Gene Model ENSMUSG00000039153 (Evidence)
Entrez Gene 12393 (Evidence)
DFCI TC1588578, TC1589716, TC1591870, TC1605225, TC1708154
NIA Mouse Gene Index U037830
Consensus CDS Project CCDS37624.2, CCDS50116.1, CCDS70815.1
International Mouse Phenotyping Consortium Status Runx2
Sequences
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)
Protein-related
information
ResourceIDDescription
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:222399 Kitazawa T, et al., Distinct effects of Hoxa2 overexpression in cranial neural crest populations reveal that the mammalian hyomandibular-ceratohyal boundary maps within the styloid process. Dev Biol. 2015 Jun 15;402(2):162-74
All references(445)
Disease annotation references (6)
Other
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
08/18/2015
MGI 6.0
The Jackson Laboratory