# RUNX1

Source: https://onco.cc/targets/runx1/  
OnCo record `runx1` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

RUNX1 (Runt-related transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.

## Summary

Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters.

CIViC holds 18 clinical evidence items and 0 assertions across 13 variants, naming Cytarabine. Open Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.83, affected pathway 0.44, literature 1.00, genetic association 0.83, somatic mutation 0.94, animal model 0.80). IntOGen calls it a driver in 7 cohorts (1 activating, 6 loss-of-function), covering Adenoid Cystic Carcinoma, Acute Lymphoblastic Leukaemia, Acute Myeloid Leukaemia, Invasive Breast Carcinoma, Glioblastoma Multiforme.

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: RUNX family transcription factor 1; Runt-related transcription factor 1; PEBP2A2; AMLCR1; AML1; CBFA2
- Tags: cancer-genes-wave
- Symbol: RUNX1
- Class: transcription
- Biology: Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. Essential for the development of normal haematopoiesis. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter. Inhibits KAT6B-dependent transcriptional activation. Location: Nucleus (UniProt). Locus 21q22.12 (HGNC).
- Where found: Leukaemia: Open Targets association 0.84 with leukaemia (MONDO_0005059); Myeloproliferative neoplasms: Open Targets association 0.83 with myeloproliferative neoplasm (MONDO_0020076); Non-Hodgkin lymphoma: Open Targets association 0.63 with non-Hodgkin lymphoma (MONDO_0018908); Myelodysplastic syndromes / neoplasms: CIViC evidence names this disease; Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA); Salivary gland cancers: IntOGen driver in 1 cohort (ACYC)

## Notes

- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts; CIViC holds 18 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.

## Sources

- HGNC HGNC:10471: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471
- UniProt Q01196: https://www.uniprot.org/uniprotkb/Q01196/entry
- NCBI Gene 861: https://www.ncbi.nlm.nih.gov/gene/861
- Ensembl ENSG00000159216: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000159216

## Connected records

- collections: [CIViC](https://onco.cc/collections/civic/), [IntOGen](https://onco.cc/collections/intogen/), [Open Targets Platform](https://onco.cc/collections/open-targets/)
- cancers: [Breast cancer (all types)](https://onco.cc/cancers/breast-cancer/), [Leukaemia (all types)](https://onco.cc/cancers/leukaemia/), [Lung cancer (all types)](https://onco.cc/cancers/lung-cancer/), [Myelodysplastic syndromes / neoplasms (MDS)](https://onco.cc/cancers/mds/), [Myeloproliferative neoplasms (PV, ET, myelofibrosis)](https://onco.cc/cancers/myeloproliferative-neoplasms/), [Non-Hodgkin lymphoma (all types)](https://onco.cc/cancers/non-hodgkin-lymphoma/), [Ovarian cancer](https://onco.cc/cancers/ovarian/), [Salivary gland cancers](https://onco.cc/cancers/salivary-gland/)
- pathways: [Acute myeloid leukaemia (KEGG map)](https://onco.cc/pathways/aml-signalling/)

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JSON: https://onco.cc/api/v1/entities/runx1.json