Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
864
Gene name Gene Name - the full gene name approved by the HGNC.
RUNX family transcription factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RUNX3
Synonyms (NCBI Gene) Gene synonyms aliases
AML2, CBFA3, PEBP2aC
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.11
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000038 hsa-miR-532-5p Review 20026422
MIRT003316 hsa-miR-130b-3p qRT-PCR, Western blot 20176475
MIRT000038 hsa-miR-532-5p Flow, qRT-PCR 19336521
MIRT007055 hsa-miR-130a-3p Luciferase reporter assay, Western blot 22846564
MIRT007295 hsa-miR-301a-3p Luciferase reporter assay, qRT-PCR, Western blot 23338485
Transcription factors
Transcription factor Regulation Reference
CBFB Unknown 24648201
DNMT1 Unknown 22274925
EHMT2 Activation 18850007
EZH2 Repression 18430739;20631058;22222375
HDAC1 Activation 18850007
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000785 Component Chromatin ISS
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600210 10473 ENSG00000020633
Protein
UniProt ID Q13761
Protein name Runt-related transcription factor 3 (Acute myeloid leukemia 2 protein) (Core-binding factor subunit alpha-3) (CBF-alpha-3) (Oncogene AML-2) (Polyomavirus enhancer-binding protein 2 alpha C subunit) (PEA2-alpha C) (PEBP2-alpha C) (SL3-3 enhancer factor 1 a
Protein function Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their r
PDB 5W69
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00853 Runt 55 184 Runt domain Domain
PF08504 RunxI 316 415 Runx inhibition domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in gastric cancer tissues (at protein level). {ECO:0000269|PubMed:20599712}.
Sequence
MRIPVDPSTSRRFTPPSPAFPCGGGGGKMGENSGALSAQAAVGPGGRARPEVRSMVDVLA
DHAGELVRTDSPNFLCSVLPSHWRCNKTLPVAFKVVALGDVPDGTVVTVMAGNDENYSAE
LRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPTQVATYHRAIKVTVDGPREP
RRHR
QKLEDQTKPFPDRFGDLERLRMRVTPSTPSPRGSLSTTSHFSSQPQTPIQGTSELN
PFSDPRQFDRSFPTLPTLTESRFPDPRMHYPGAMSAAFPYSATPSGTSISSLSVAGMPAT
SRFHHTYLPPPYPGAPQNQSGPFQANPSPYHLYYGTSSGSYQFSMVAGSSSGGDRSPTRM
LASCTSSAASVAAGNLMNPSLGGQSDGVEADGSHSNSPTALSTPGRMDEAVWRPY
Sequence length 415
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Th1 and Th2 cell differentiation
Epstein-Barr virus infection
  Binding of TCF/LEF:CTNNB1 to target gene promoters
RUNX3 regulates CDKN1A transcription
RUNX3 regulates NOTCH signaling
Regulation of RUNX3 expression and activity
RUNX3 Regulates Immune Response and Cell Migration
RUNX3 regulates WNT signaling
RUNX3 regulates YAP1-mediated transcription
RUNX3 regulates RUNX1-mediated transcription
RUNX3 regulates p14-ARF
RUNX3 regulates BCL2L11 (BIM) transcription
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Asthma Age of onset of adult onset asthma, Asthma N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 18831746, 19764999
Adenocarcinoma Inhibit 22729835
Adenocarcinoma of Lung Associate 15819721, 37545222
Adenocarcinoma of Lung Inhibit 20353948, 22729835
Adenoma Associate 14968123, 24622886
Adenoma Pleomorphic Associate 21105967
Alzheimer Disease Associate 37253165
Aortic Aneurysm Familial Abdominal 1 Associate 17634102
Arthritis Juvenile Associate 25540605
Arthritis Psoriatic Associate 23401011