Gene: CBFA2T3

Alternate names for this Gene: ETO2|MTG16|MTGR2|RUNX1T3|ZMYND4

Gene Summary: This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: CBFA2/RUNX1 partner transcriptional co-repressor 3

Type of Gene: protein-coding

rs117565673 in CBFA2T3 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7188793 in CBFA2T3 gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.