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Runx3 Gene Detail
Summary
  • Symbol
    Runx3
  • Name
    runt related transcription factor 3
  • Synonyms
    AML2, Cbfa3
  • Feature Type
    protein coding gene
  • IDs
    MGI:102672
    NCBI Gene: 12399
  • Gene Overview
    MyGene.info: RUNX3
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:135120652-135177990 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 67.19 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    530 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102672
protein coding gene Chr4:135120645-135177990 (.)
129S1/SvImJ MGP_129S1SvImJ_G0028939
protein coding gene Chr4:137529951-137593757 (+)
A/J MGP_AJ_G0028898
protein coding gene Chr4:131731006-131789530 (+)
AKR/J MGP_AKRJ_G0028850
protein coding gene Chr4:135519274-135577037 (+)
BALB/cJ MGP_BALBcJ_G0028922
protein coding gene Chr4:132385025-132443723 (+)
C3H/HeJ MGP_C3HHeJ_G0028636
protein coding gene Chr4:135774475-135838260 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029363
protein coding gene Chr4:142466450-142524681 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026634
protein coding gene Chr4:124786890-124843997 (+)
CAST/EiJ MGP_CASTEiJ_G0028068
protein coding gene Chr4:133901735-133997652 (+)
CBA/J MGP_CBAJ_G0028601
protein coding gene Chr4:146280720-146345591 (+)
DBA/2J MGP_DBA2J_G0028750
protein coding gene Chr4:132151393-132209325 (+)
FVB/NJ MGP_FVBNJ_G0028717
protein coding gene Chr4:131067556-131126488 (+)
LP/J MGP_LPJ_G0028849
protein coding gene Chr4:137637555-137700064 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028743
protein coding gene Chr4:150676603-150736265 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029401
protein coding gene Chr4:135964779-136024039 (+)
PWK/PhJ MGP_PWKPhJ_G0027788
protein coding gene Chr4:128913023-128978589 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027614
protein coding gene Chr4:131792416-131855763 (+)
WSB/EiJ MGP_WSBEiJ_G0028146
protein coding gene Chr4:136139393-136197790 (+)



Homology
more
  • Human Ortholog
    RUNX3, runt related transcription factor 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RUNX3, runt related transcription factor 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AML2, CBFA3, PEBP2aC
  • Links
    NCBI Gene ID: 864
    neXtProt AC: NX_Q13761
    UniProt: Q13761

  • Chr Location
    1p36.11; chr1:24899511-24965158 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Runx3 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    95 phenotypes from 7 alleles in 12 genetic backgrounds
    8 phenotypes from multigenic genotypes
    3 images
    71 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.
Nullizygous mutations can lead to variable phenotypes, including postnatal lethality, ataxia, skeletal and behavioral defects, altered differentiation and function of T cells and dendritic cells, gastric hyperplasia, intestinal and lung inflammation, hair shape changes, and absent Langerhans cells.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000070691 Ensembl Gene Model | MGI Sequence Detail 57339 C57BL/6J ±  kb
    transcript ENSMUST00000056977 Ensembl | MGI Sequence Detail 3884 Not Applicable  
    polypeptide ENSMUSP00000050353 Ensembl | MGI Sequence Detail 423 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • 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 superfamily
      IPR013524 Runt domain
      IPR016554 Runt-related transcription factor RUNX
      IPR013711 Runx, C-terminal domain
    Molecular
    Reagents
    less
    • All nucleic 44
      Genomic 1
      cDNA 34
      Primer pair 6
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-19575
    References
    more
    • Summaries
      All 174
      Developmental Gene Expression 65
      Diseases 2
      Gene Ontology 16
      Phenotypes 71
    • Earliest
      J:20817 Levanon D, et al., AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization. Genomics. 1994 Sep 15;23(2):425-32
    • Latest
      J:263887 Yan J, et al., Smad4 deficiency impairs chondrocyte hypertrophy via the Runx2 transcription factor in mouse skeletal development. J Biol Chem. 2018 Jun 15;293(24):9162-9175

    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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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory