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Runx3 runt related transcription factor 3 [ Mus musculus (house mouse) ]

Gene ID: 12399, updated on 10-Jan-2023

Summary

Official Symbol
Runx3provided by MGI
Official Full Name
runt related transcription factor 3provided by MGI
Primary source
MGI:MGI:102672
See related
Ensembl:ENSMUSG00000070691 AllianceGenome:MGI:102672
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rx3; AML2; Cbfa3; Pebp2a3
Summary
Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including negative regulation of epithelial cell proliferation; negative regulation of transcription by RNA polymerase II; and regulation of alpha-beta T cell differentiation. Acts upstream of or within several processes, including chondrocyte differentiation; hair follicle morphogenesis; and positive regulation of extrinsic apoptotic signaling pathway. Located in chromatin and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; limb; nervous system; and sensory organ. Used to study asthma and inflammatory bowel disease. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); female reproductive organ cancer (multiple); lung non-small cell carcinoma; pancreatic cancer; and urinary bladder cancer. Orthologous to human RUNX3 (RUNX family transcription factor 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in spleen adult (RPKM 11.1), thymus adult (RPKM 6.0) and 11 other tissues See more
Orthologs
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Genomic context

See Runx3 in Genome Data Viewer
Location:
4 D3; 4 67.19 cM
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (134847956..134905301)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (135120645..135177990)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene DRG (dorsal root ganglion) regulatory region upstream of Runx3 Neighboring gene predicted gene, 42327 Neighboring gene predicted gene 16225 Neighboring gene chloride intracellular channel 4 (mitochondrial) Neighboring gene VISTA enhancer mm1648 Neighboring gene predicted gene, 30767

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within axon guidance IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell maturation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within chondrocyte differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within hair follicle morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hemopoiesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of CD4-positive, alpha-beta T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of CD8-positive, alpha-beta T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to transforming growth factor beta ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within type II interferon production IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
part_of core-binding factor complex TAS
Traceable Author Statement
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
runt-related transcription factor 3
Names
CBF-alpha-3
PEA2-alpha C
PEBP2-alpha C
SL3-3 enhancer factor 1 alpha C subunit
SL3/AKV core-binding factor alpha C subunit
acute myeloid leukemia 2 protein
core binding factor alpha 3
core-binding factor subunit alpha-3
oncogene AML-2
polyomavirus enhancer-binding protein 2 alpha C subunit
runt domain, alpha subunit 3
transcription factor AML2/CBFA3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001369050.1NP_001355979.1  runt-related transcription factor 3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL731718
    Consensus CDS
    CCDS89843.1
    UniProtKB/Swiss-Prot
    Q9R199
    UniProtKB/TrEMBL
    A0A8C6GB86
    Related
    ENSMUSP00000113159.2, ENSMUST00000119564.2
    Conserved Domains (2) summary
    pfam00853
    Location:63184
    Runt; Runt domain
    pfam08504
    Location:314409
    RunxI; Runx inhibition domain
  2. NM_019732.2NP_062706.2  runt-related transcription factor 3 isoform 1

    See identical proteins and their annotated locations for NP_062706.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK155436, AL731718
    Consensus CDS
    CCDS18782.1
    UniProtKB/TrEMBL
    A0A8C6MPR5, Q3U1Q3
    Related
    ENSMUSP00000050353.8, ENSMUST00000056977.14
    Conserved Domains (2) summary
    pfam00853
    Location:77198
    Runt; Runt domain
    pfam08504
    Location:328423
    RunxI; Runx inhibition domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    134847956..134905301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006538506.5XP_006538569.1  runt-related transcription factor 3 isoform X1

    See identical proteins and their annotated locations for XP_006538569.1

    Conserved Domains (2) summary
    pfam00853
    Location:174
    Runt; Runt domain
    pfam08504
    Location:204299
    RunxI; Runx inhibition domain