RUNX1 RUNX family transcription factor 1
Gene ID: 861, updated on 30-May-2024Gene type: protein coding
Also known as: AML1; CBFA2; EVI-1; AMLCR1; PEBP2aB; CBF2alpha; AML1-EVI-1; PEBP2alpha
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- Go to complete Gene record for RUNX1
- Go to Variation Viewer for RUNX1 variants
Summary
Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Acute myeloid leukemia | See labs |
| Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. GeneReviews: Not available | |
| Genome-wide association study of antibody response to smallpox vaccine. GeneReviews: Not available | |
| Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. GeneReviews: Not available | |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 MedGen: C1832388OMIM: 601399GeneReviews: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies | See labs |
| Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-06-14) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-06-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 21q22.12
- Sequence:
- Chromosome: 21; NC_000021.9 (34787801..35049302, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RUNX1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- RUNX1 database
- Variation ViewerRelated Variants
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