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 zebrafish

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

Human homologs

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 phenotypes

All 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)

Gene Ontology (GO) classifications

All GO classifications: (78 annotations)

Process	BMP signaling pathway, cell maturation, ...
Component	cytoplasm, nuclear chromatin, ...
Function	ATP binding, bHLH transcription factor binding, ...

External Resources: FuncBase

Expression

Literature Summary: (253 records)

Data Summary: Results (764)    Tissues (380)    Images (168)
Theiler Stages: 2, 3, 4, 5, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	22
RNA in situ	600
In situ reporter (knock in)	24
Northern blot	34
Western blot	2
RT-PCR	68
Nuclease S1	14

cDNA source data(37)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(66) Genomic(3) cDNA(42) Primer pair(11) Other(10)
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 Knockout Project Status	Runx2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000033514	VEGA Gene Model | MGI Sequence Detail	318811	C57BL/6J
transcript	OTTMUST00000084307	VEGA | MGI Sequence Detail	1791	Not Applicable
polypeptide	OTTMUSP00000045414	VEGA | MGI Sequence Detail	596	Not Applicable

All sequences(130) RefSeq(37) UniProt(11)

Polymorphisms

RFLP(3) : SNPs within 2kb(1334 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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:205339 Mis EK, et al., Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length. Dev Biol. 2014 Jan 1;385(1):67-82
All references(405)

Other accession IDs

MGD-MRK-16616, MGD-MRK-1777, MGD-MRK-33692