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Runx2 Gene Detail
Summary
  • Symbol
    Runx2
  • Name
    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
  • IDs
    MGI:99829
    NCBI Gene: 12393
  • Gene Overview
    MyGene.info: RUNX2
Location & Maps
more
  • Sequence Map
    Chr17:44495987-44814797 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      318811 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 21.33 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    RUNX2, runt related transcription factor 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RUNX2, runt related transcription factor 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AML3, CBFA1, CBF-alpha-1, CCD, CCD1, CLCD, OSF2, OSF-2, PEA2aA, PEBP2aA
  • Links
    NCBI Gene ID: 860
    neXtProt AC: NX_Q13950

  • Chr Location
    6p21; chr6:45327800-45664032 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Runx2 mouse models; 2 with human RUNX2 associations

Human Disease Mouse Models
       Cleidocranial Dysplasia; CCD   OMIM: 119600 View 4 models
       Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly;   OMIM: 156510
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    143 phenotypes from 12 alleles in 13 genetic backgrounds
    40 phenotypes from multigenic genotypes
    9 images
    110 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    18
  • Gene trapped
    1
  • Targeted
    14
  • Transgenic
    2
  • Transposon induced
    1
  • Incidental Mutations
    Mutagenetix , APF , CvDC
Mice homozygous for a null allele exhibit neonatal lethality, decreased body weight, abnormal hematopoiesis, and skeletal abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    80
  • GO References
    43
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    845
  • Tissues
    409
  • cDNA Data
    39
  • Literature Summary
    299
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    1311 from dbSNP Build 142
  • RFLP
    3
Protein
Information
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  • UniProt
    11 Sequences
  • Protein Ontology
    PR:000014364 runt-related transcription factor 2
  • InterPro Domains
    IPR000040 Acute myeloid leukemia 1 protein (AML1)/Runt
    IPR008967 p53-like transcription factor, DNA-binding
    IPR012346 p53/RUNT-type transcription factor, DNA-binding domain
    IPR021216 Protein of unknown function DUF2722
    IPR013524 Runt domain
    IPR016554 Runt-related transcription factor RUNX
    IPR027384 Runx, central domain
    IPR013711 Runx, C-terminal domain
Molecular
Reagents
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  • All nucleic 72
    Genomic 3
    cDNA 44
    Primer pair 12
    Other 13

    Microarray probesets 8
Other
Accession IDs
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MGD-MRK-16616, MGD-MRK-1777, MGD-MRK-33692
References
more
  • Summaries
    All 476
    Developmental Gene Expression 299
    Diseases 7
    Gene Ontology 43
    Phenotypes 110
  • 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:233766 Jiang Q, et al., Cbfb2 Isoform Dominates More Potent Cbfb1 and Is Required for Skeletal Development. J Bone Miner Res. 2016 Jul;31(7):1391-404
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory