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Aliases for RUNX3 Gene

Aliases for RUNX3 Gene

  • Runt Related Transcription Factor 3 2 3
  • Polyomavirus Enhancer-Binding Protein 2 Alpha C Subunit 3 4
  • SL3/AKV Core-Binding Factor Alpha C Subunit 3 4
  • SL3-3 Enhancer Factor 1 Alpha C Subunit 3 4
  • Runt-Related Transcription Factor 3 2 5
  • Core-Binding Factor Subunit Alpha-3 3 4
  • Acute Myeloid Leukemia 2 Protein 3 4
  • Oncogene AML-2 3 4
  • PEBP2-Alpha C 3 4
  • PEA2-Alpha C 3 4
  • CBF-Alpha-3 3 4
  • CBFA3 3 4
  • AML2 3 4
  • Core-Binding Factor, Runt Domain, Alpha Subunit 3 3
  • Acute Myeloid Leukemia Gene 2 3
  • Transcription Factor AML2 3
  • PEBP2 Alpha C 3
  • PEA2 Alpha C 3
  • PEBP2aC 3
  • PEBP2A3 4

External Ids for RUNX3 Gene

Previous HGNC Symbols for RUNX3 Gene

  • CBFA3

Previous GeneCards Identifiers for RUNX3 Gene

  • GC01M024749
  • GC01M024294
  • GC01M024205
  • GC01M024577
  • GC01M024971
  • GC01M025098
  • GC01M025226
  • GC01M023479

Summaries for RUNX3 Gene

Entrez Gene Summary for RUNX3 Gene

  • 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]

GeneCards Summary for RUNX3 Gene

RUNX3 (Runt Related Transcription Factor 3) is a Protein Coding gene. Diseases associated with RUNX3 include esophagus squamous cell carcinoma and testicular yolk sac tumor. Among its related pathways are SIDS Susceptibility Pathways and Endochondral Ossification. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is RUNX1.

UniProtKB/Swiss-Prot for RUNX3 Gene

  • CBF binds to the core site, 5-PYGPYGGT-3, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, lck, IL-3 and GM-CSF promoters. In association with ZFHX3, upregulates CDKN1A promoter activity following TGF-beta stimulation (PubMed:20599712).

Gene Wiki entry for RUNX3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUNX3 Gene

Genomics for RUNX3 Gene

Regulatory Elements for RUNX3 Gene

Promoters for RUNX3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RUNX3 on UCSC Golden Path with GeneCards custom track

Genomic Location for RUNX3 Gene

Chromosome:
1
Start:
24,899,511 bp from pter
End:
24,965,157 bp from pter
Size:
65,647 bases
Orientation:
Minus strand

Genomic View for RUNX3 Gene

Genes around RUNX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUNX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUNX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUNX3 Gene

Proteins for RUNX3 Gene

  • Protein details for RUNX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13761-RUNX3_HUMAN
    Recommended name:
    Runt-related transcription factor 3
    Protein Accession:
    Q13761
    Secondary Accessions:
    • B1AJV5
    • Q12969
    • Q13760

    Protein attributes for RUNX3 Gene

    Size:
    415 amino acids
    Molecular mass:
    44356 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit. The alpha subunit binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Interacts with TLE1 and SUV39H1. The tyrosine phosphorylated form (via runt domain) interacts with SRC (via protein kinase domain). Interacts with FYN and LCK. Interacts with FOXP3. Interacts with ZFHX3.

    Alternative splice isoforms for RUNX3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RUNX3 Gene

Proteomics data for RUNX3 Gene at MOPED

Post-translational modifications for RUNX3 Gene

  • Phosphorylated on tyrosine residues by SRC. Phosphorylated by LCK and FYN.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RUNX3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RUNX3 (AML2)

No data available for DME Specific Peptides for RUNX3 Gene

Domains & Families for RUNX3 Gene

Graphical View of Domain Structure for InterPro Entry

Q13761

UniProtKB/Swiss-Prot:

RUNX3_HUMAN :
  • A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes.
Domain:
  • A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes.
  • Contains 1 Runt domain.
genes like me logo Genes that share domains with RUNX3: view

No data available for Gene Families for RUNX3 Gene

Function for RUNX3 Gene

Molecular function for RUNX3 Gene

GENATLAS Biochemistry:
Drosophila Runt pair rule-related transcription factor 3,expressed in various lymphoid and myeloid cells,involved in hematopoiesis and osteogenesis
UniProtKB/Swiss-Prot Function:
CBF binds to the core site, 5-PYGPYGGT-3, of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, lck, IL-3 and GM-CSF promoters. In association with ZFHX3, upregulates CDKN1A promoter activity following TGF-beta stimulation (PubMed:20599712).

Gene Ontology (GO) - Molecular Function for RUNX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 9751710
genes like me logo Genes that share ontologies with RUNX3: view
genes like me logo Genes that share phenotypes with RUNX3: view

Animal Models for RUNX3 Gene

MGI Knock Outs for RUNX3:

Animal Model Products

  • Taconic Biosciences Mouse Models for RUNX3

miRNA for RUNX3 Gene

miRTarBase miRNAs that target RUNX3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RUNX3 Gene

Localization for RUNX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUNX3 Gene

Nucleus. Cytoplasm. Note=The tyrosine phosphorylated form localizes to the cytoplasm. Translocates from the cytoplasm to the nucleus following TGF-beta stimulation. {ECO:0000269 PubMed:20599712}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RUNX3 Gene COMPARTMENTS Subcellular localization image for RUNX3 gene
Compartment Confidence
nucleus 5
cytosol 2
golgi apparatus 2
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for RUNX3 Gene

Pathways & Interactions for RUNX3 Gene

genes like me logo Genes that share pathways with RUNX3: view

SIGNOR curated interactions for RUNX3 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RUNX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001503 ossification IBA --
GO:0006355 regulation of transcription, DNA-templated IEA,NAS 7622058
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0006468 protein phosphorylation IDA 20100835
genes like me logo Genes that share ontologies with RUNX3: view

Drugs & Compounds for RUNX3 Gene

(1) Drugs for RUNX3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for RUNX3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RUNX3: view

Transcripts for RUNX3 Gene

Unigene Clusters for RUNX3 Gene

Runt-related transcription factor 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RUNX3 Gene

No ASD Table

Relevant External Links for RUNX3 Gene

GeneLoc Exon Structure for
RUNX3
ECgene alternative splicing isoforms for
RUNX3

Expression for RUNX3 Gene

mRNA expression in normal human tissues for RUNX3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RUNX3 Gene

This gene is overexpressed in Whole Blood (x16.1) and Spleen (x4.8).

Protein differential expression in normal tissues from HIPED for RUNX3 Gene

This gene is overexpressed in NK cells (28.2), Peripheral blood mononuclear cells (15.7), CD8 Tcells (10.1), and CD4 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RUNX3 Gene



SOURCE GeneReport for Unigene cluster for RUNX3 Gene Hs.170019

mRNA Expression by UniProt/SwissProt for RUNX3 Gene

Q13761-RUNX3_HUMAN
Tissue specificity: Expressed in gastric cancer tissues (at protein level).
genes like me logo Genes that share expression patterns with RUNX3: view

Protein tissue co-expression partners for RUNX3 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for RUNX3 Gene

This gene was present in the common ancestor of animals.

Orthologs for RUNX3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RUNX3 35
  • 91.58 (n)
  • 94.36 (a)
RUNX3 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC487366 35
  • 92.12 (n)
  • 95.38 (a)
RUNX3 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Runx3 35
  • 89.18 (n)
  • 93.13 (a)
Runx3 16
Runx3 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RUNX3 35
  • 99.38 (n)
  • 100 (a)
RUNX3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Runx3 35
  • 88.67 (n)
  • 92.8 (a)
oppossum
(Monodelphis domestica)
Mammalia RUNX3 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 88 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RUNX3 35
  • 80.56 (n)
  • 87.47 (a)
RUNX3 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUNX3 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia runx3 35
  • 72.55 (n)
  • 81.07 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
runx3 35
  • 68.02 (n)
  • 71.5 (a)
runx3 36
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1379 37
  • 73 (a)
CG15455 37
  • 67 (a)
lz 37
  • 63 (a)
run 37
  • 67 (a)
lz 36
  • 14 (a)
ManyToMany
run 36
  • 20 (a)
ManyToMany
RunxA 36
  • 18 (a)
ManyToMany
RunxB 36
  • 17 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rnt-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToMany
Species with no ortholog for RUNX3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RUNX3 Gene

ENSEMBL:
Gene Tree for RUNX3 (if available)
TreeFam:
Gene Tree for RUNX3 (if available)

Paralogs for RUNX3 Gene

Paralogs for RUNX3 Gene

(6) SIMAP similar genes for RUNX3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RUNX3: view

Variants for RUNX3 Gene

Sequence variations from dbSNP and Humsavar for RUNX3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs13157 -- 24,901,186(-) ATGTC(C/T)CTGTC utr-variant-3-prime
rs760805 -- 24,925,432(+) CATGT(A/T)TCCAG intron-variant
rs736553 -- 24,915,702(+) GCCCC(C/T)GAGGC intron-variant
rs742230 -- 24,924,933(-) AACAA(C/T)AGGGC intron-variant
rs742231 -- 24,924,965(-) AGACA(C/T)GCACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RUNX3 Gene

Variant ID Type Subtype PubMed ID
nsv870740 CNV Gain 21882294
nsv508581 CNV Loss 20534489
nsv871803 CNV Loss 21882294

Variation tolerance for RUNX3 Gene

Residual Variation Intolerance Score: 26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RUNX3 Gene

HapMap Linkage Disequilibrium report
RUNX3
Human Gene Mutation Database (HGMD)
RUNX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUNX3 Gene

Disorders for RUNX3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for RUNX3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
esophagus squamous cell carcinoma
  • esophageal squamous cell carcinoma
testicular yolk sac tumor
  • testicular yolk sac neoplasm
salivary gland adenoid cystic carcinoma
  • adenoid cystic cancer
stomach cancer
  • ca body - stomach
gastric cancer
  • stomach cancer
- elite association - COSMIC cancer census association via MalaCards
Search RUNX3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RUNX3

Genetic Association Database (GAD)
RUNX3
Human Genome Epidemiology (HuGE) Navigator
RUNX3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RUNX3
genes like me logo Genes that share disorders with RUNX3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RUNX3 Gene

Publications for RUNX3 Gene

  1. AML1, AML2, and AML3, the human members of the runt domain gene- family: cDNA structure, expression, and chromosomal localization. (PMID: 7835892) Levanon D. … Groner Y. (Genomics 1994) 2 3 4 67
  2. Claudin-1 has tumor suppressive activity and is a direct target of RUNX3 in gastric epithelial cells. (PMID: 19706291) Chang T.L. … Ito Y. (Gastroenterology 2010) 3 23
  3. Src kinase phosphorylates RUNX3 at tyrosine residues and localizes the protein in the cytoplasm. (PMID: 20100835) Goh Y.M. … Bae S.C. (J. Biol. Chem. 2010) 3 23
  4. RUNX3 modulates DNA damage-mediated phosphorylation of tumor suppressor p53 at Ser-15 and acts as a co-activator for p53. (PMID: 20353948) Yamada C. … Nakagawara A. (J. Biol. Chem. 2010) 3 23
  5. Chromatin immunoprecipitation and association study revealed a possible role of Runt-related transcription factor 3 in the ulcerative colitis of Chinese population. (PMID: 20392673) Guo C. … Ding J. (Clin. Immunol. 2010) 3 23

Products for RUNX3 Gene

Sources for RUNX3 Gene

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