Gene Gene information from NCBI Gene database.
Entrez ID 864
Gene name RUNX family transcription factor 3
Gene symbol RUNX3
Synonyms (NCBI Gene)
AML2CBFA3PEBP2aC
Chromosome 1
Chromosome location 1p36.11
Summary 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.
264
miRTarBase ID miRNA Experiments Reference
MIRT000038 hsa-miR-532-5p Review 20026422
MIRT003316 hsa-miR-130b-3p qRT-PCRWestern blot 20176475
MIRT000038 hsa-miR-532-5p FlowqRT-PCR 19336521
MIRT007055 hsa-miR-130a-3p Luciferase reporter assayWestern blot 22846564
MIRT007295 hsa-miR-301a-3p Luciferase reporter assayqRT-PCRWestern blot 23338485
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600210 10473 ENSG00000020633
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER'S DISEASE NEUROPATHOLOGIC CHANGE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 8710369
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 25612675
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 18206229
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 18206229
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 31298391
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12841866, 16328045, 17606310, 19764999, 22729835, 24229708, 26082616, 26862903, 29100342
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 21552421
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 25229459, 31831860
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 24403453
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 20228843, 21508367, 22729835, 23892093, 24229708, 26239696
★☆☆☆☆
Found in Text Mining only