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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
    UniProt: Q13950

  • Chr Location
    6p21.1; chr6:45328142-45664032 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    2 with Runx2 mouse models; 1 with human RUNX2 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 1 model
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
    144 phenotypes from 12 alleles in 13 genetic backgrounds
    40 phenotypes from multigenic genotypes
    9 images
    115 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.
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
    85
  • GO References
    46
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
    848
  • Tissues
    410
  • cDNA Data
    39
  • Literature Summary
    311
Interactions
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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
less
Molecular
Reagents
less
  • All nucleic 73
    Genomic 3
    cDNA 44
    Primer pair 13
    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 505
    Developmental Gene Expression 311
    Diseases 7
    Gene Ontology 46
    Phenotypes 115
  • 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:240559 Xiong F, et al., Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. Hum Mutat. 2017 Jan;38(1):95-104
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/19/2017
MGI 6.10 		The Jackson Laboratory