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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
Location &
Maps
more
  • Sequence Map
    Chr17:44806873-45125518 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 21.33 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8105 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99829
 protein coding gene Chr17:44806873-45125684 (-)
129S1/SvImJ ENSMUSG00200045909
 protein coding gene Chr17:40011033-40332182 (-)
A/J ENSMUSG00195020770
 protein coding gene Chr17:41512755-41832177 (-)
AKR/J ENSMUSG00220051310
 protein coding gene Chr17:40481353-40800490 (-)
BALB/cJ ENSMUSG00180020236
 protein coding gene Chr17:41248873-41567988 (-)
C3H/HeJ ENSMUSG00175013497
 protein coding gene Chr17:40562957-40882082 (-)
C57BL/6NJ ENSMUSG00215052876
 protein coding gene Chr17:40127063-40446181 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021639
 protein coding gene Chr17:41211214-41527465 (-)
CAST/EiJ ENSTCUG00005021303
 protein coding gene Chr17:41309064-41628966 (-)
CBA/J ENSMUSG00210046892
 protein coding gene Chr17:40312716-40631838 (-)
DBA/2J ENSMUSG00185027499
 protein coding gene Chr17:43229614-43548712 (-)
FVB/NJ ENSMUSG00205027829
 protein coding gene Chr17:40795777-41115114 (-)
JF1/MsJ ENSUMUG00000016112
 protein coding gene Chr17:42856061-43178224 (-)
LP/J ENSMUSG00230039786
 protein coding gene Chr17:44122222-44442607 (-)
NOD/ShiLtJ ENSMUSG00190028669
 protein coding gene Chr17:40206460-40525832 (-)
NZO/HlLtJ ENSMUSG00225043215
 protein coding gene Chr17:46374773-46694682 (-)
PWK/PhJ ENSLUMG00010041292
 protein coding gene Chr17:40087016-40412468 (-)
SPRET/EiJ ENSMSPG00010039677
 protein coding gene Chr17:40294884-40613528 (-)
WSB/EiJ ENSIUOG00005026623
 protein coding gene Chr17:41177234-41496612 (-)



Homology
more
  • Human Ortholog
    RUNX2, RUNX family transcription factor 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RUNX2, RUNX family transcription factor 2
  • Synonyms
    AML3, CBFA1, CBF-alpha-1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA
  • Links
    NCBI Gene ID: 860
    UniProt: Q13950

  • Chr Location
    6p21.1; chr6:45328157-45664349 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Runx2 mouse models; 4 with human RUNX2 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
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
    157 phenotypes from 13 alleles in 14 genetic backgrounds
    41 phenotypes from multigenic genotypes
    9 images
    185 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
    138
  • GO References
    58
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    2104
  • Tissues
    618
  • cDNA Data
    54
  • Literature Summary
    508
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12393 NCBI Gene Model | MGI Sequence Detail 318646 C57BL/6J ±  kb
    transcript NM_001271627 RefSeq | MGI Sequence Detail 5896 ZRU/MplStud  
    polypeptide Q08775 UniProt | EBI | MGI Sequence Detail 607 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • Protein Ontology
      PR:000014364 runt-related transcription factor 2
      (term hierarchy)
    • InterPro Domains
      IPR000040 Acute myeloid leukemia 1 protein (AML1)/Runt
      IPR008967 p53-like transcription factor, DNA-binding domain superfamily
      IPR012346 p53/RUNT-type transcription factor, DNA-binding domain superfamily
      IPR013524 Runt domain
      IPR016554 Runt-related transcription factor RUNX
      IPR027384 Runx, central domain superfamily
      IPR013711 Runx, C-terminal domain
    • GlyGen
      Q08775 4 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 159
      Genomic 3
      cDNA 60
      Primer pair 46
      Other 50
      Antibodies 26

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-16616, MGD-MRK-1777, MGD-MRK-33692
    References
    more
    • Summaries
      All 1016
      Developmental Gene Expression 508
      Diseases 7
      Gene Ontology 58
      Phenotypes 185
    • Earliest
      J:3972 Bae SC, et al., Isolation of PEBP2 alpha B cDNA representing the mouse homolog of human acute myeloid leukemia gene, AML1. Oncogene. 1993 Mar;8(3):809-14
    • Latest
      J:391326 Chae SA, et al., Maternal Exercise Rescues Embryonic Osteogenesis Impaired due to POLG Mutation Through a Potential Apelin-ATF4 Axis. Adv Sci (Weinh). 2026 Aug 7;:e77029
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory