Human Gene RUNX3 (uc009vrk.3)
  Description: Homo sapiens runt-related transcription factor 3 (RUNX3), transcript variant 1, mRNA.
RefSeq Summary (NM_001031680): This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016].
Transcript (Including UTRs)
   Position: hg19 chr1:25,255,176-25,291,501 Size: 36,326 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr1:25,255,505-25,291,062 Size: 35,558 Coding Exon Count: 2 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:25,255,176-25,291,501)mRNA (may differ from genome)Protein (298 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGeneCardsGeneNetworkH-INVHGNC
LynxMalacardsMGIPubMedTreefamWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RUNX3
CDC HuGE Published Literature: RUNX3
Positive Disease Associations: Celiac disease , Lipoprotein(a) , Spondylitis, Ankylosing , Waist-Hip Ratio
Related Studies:
  1. Celiac disease
    Dubois ,et al. Nat Genet 2010, Multiple common variants for celiac disease influencing immune gene expression , Nature genetics 2010 42- 4 : 295-302. [PubMed 20190752]
  2. Celiac Disease
    Patrick C A Dubois et al. Nature genetics 2010, Multiple common variants for celiac disease influencing immune gene expression., Nature genetics. [PubMed 20190752]
  3. Lipoprotein(a)
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: RUNX3
Diseases sorted by gene-association score: testicular yolk sac tumor (16), esophagus squamous cell carcinoma (15), salivary gland adenoid cystic carcinoma (12), cleidocranial dysplasia (11), inflammatory bowel disease 7 (11), stomach cancer (9), myeloid leukemia (6), gastric cancer, somatic (6), cholecystitis (5), colorectal cancer (3), leukemia, acute myeloid (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.82 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 167.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -109.23439-0.249 Picture PostScript Text
3' UTR -130.25329-0.396 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  Z35278 - H.sapiens PEBP2aC1 acute myeloid leukaemia mRNA.
BC013362 - Homo sapiens runt-related transcription factor 3, mRNA (cDNA clone MGC:16070 IMAGE:3615873), complete cds.
X79550 - Homo sapiens AML2 mRNA.
AK300056 - Homo sapiens cDNA FLJ52905 complete cds, highly similar to Runt-related transcription factor 3.
AK301044 - Homo sapiens cDNA FLJ56502 complete cds, highly similar to Runt-related transcription factor 3.
KJ890836 - Synthetic construct Homo sapiens clone ccsbBroadEn_00230 RUNX3 gene, encodes complete protein.
AB590596 - Synthetic construct DNA, clone: pFN21AB7978, Homo sapiens RUNX3 gene for runt-related transcription factor 3, without stop codon, in Flexi system.
AK310945 - Homo sapiens cDNA, FLJ17987.
AF022726 - Homo sapiens transcription factor AML2 (AML2) mRNA, partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: AK310945
UCSC ID: uc009vrk.3
RefSeq Accession: NM_001031680

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK310945.1
exon count: 2CDS single in 3' UTR: no RNA size: 1661
ORF size: 897CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 1592.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 1244# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.