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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
  • Alliance
    gene page
  • Transcription Start Sites
    24 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:44806874-45125684 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
    1310 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99829
 protein coding gene Chr17:44806874-45125684 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023784
 protein coding gene Chr17:45451888-45792877 (-)
A/J MGP_AJ_G0023742
 protein coding gene Chr17:44404148-44723801 (-)
AKR/J MGP_AKRJ_G0023713
 protein coding gene Chr17:44672363-45006043 (-)
BALB/cJ MGP_BALBcJ_G0023746
 protein coding gene Chr17:44278769-44601718 (-)
C3H/HeJ MGP_C3HHeJ_G0023510
 protein coding gene Chr17:45382734-45724145 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024189
 protein coding gene Chr17:47455662-47794866 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021639
 protein coding gene Chr17:41211214-41527465 (-)
CAST/EiJ MGP_CASTEiJ_G0022991
 protein coding gene Chr17:45451151-45796693 (-)
CBA/J MGP_CBAJ_G0023486
 protein coding gene Chr17:49119083-49488651 (-)
DBA/2J MGP_DBA2J_G0023612
 protein coding gene Chr17:43196126-43519058 (-)
FVB/NJ MGP_FVBNJ_G0023579
 protein coding gene Chr17:42759944-43088032 (-)
LP/J MGP_LPJ_G0023693
 protein coding gene Chr17:46117609-46459924 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023608
 protein coding gene Chr17:48730907-49072905 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024234
 protein coding gene Chr17:45029494-45370563 (-)
PWK/PhJ MGP_PWKPhJ_G0022736
 protein coding gene Chr17:42471215-42802629 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022551
 protein coding gene Chr17:42004455-42233876 (-)
WSB/EiJ MGP_WSBEiJ_G0023056
 protein coding gene Chr17:45551554-45892433 (-)



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, 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; 3 with human RUNX2 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 1 model
      
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
    150 phenotypes from 11 alleles in 12 genetic backgrounds
    46 phenotypes from multigenic genotypes
    9 images
    162 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
    123
  • GO References
    55
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
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1876
  • Tissues
    536
  • cDNA Data
    47
  • Literature Summary
    446
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12393 NCBI Gene Model | MGI Sequence Detail 318811 C57BL/6J ±  kb
    transcript NM_001271627 RefSeq | MGI Sequence Detail 5896 C57BL/6  
    polypeptide Q08775 UniProt | EBI | MGI Sequence Detail 607 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      11 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
      IPR021216 Protein of unknown function DUF2722
      IPR013524 Runt domain
      IPR016554 Runt-related transcription factor RUNX
      IPR027384 Runx, central domain superfamily
      IPR013711 Runx, C-terminal domain
    Molecular
    Reagents
    less
    • All nucleic 112
      Genomic 3
      cDNA 52
      Primer pair 27
      Other 30

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-16616, MGD-MRK-1777, MGD-MRK-33692
    References
    more
    • Summaries
      All 759
      Developmental Gene Expression 446
      Diseases 7
      Gene Ontology 55
      Phenotypes 162
    • 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:335294 Redhead Y, et al., Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes. Development. 2023 Apr 15;150(8):dev201077
    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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    05/30/2023
    MGI 6.22     		The Jackson Laboratory