CBFA2T3

Chr 16

CBFA2/RUNX1 partner transcriptional co-repressor 3

Also known as: ETO2, MTG16, MTGR2, RUNX1T3, ZMYND4

NCBI Gene: 863 ENSG00000129993 UniProt: O75081

The protein encoded by this gene functions as a transcriptional corepressor that facilitates gene silencing by recruiting other corepressors and histone-modifying enzymes to DNA-binding transcription factors. Mutations in CBFA2T3 cause autosomal dominant neurodevelopmental disorders with intellectual disability, autism spectrum disorder, and variable features including seizures and behavioral abnormalities. This gene is moderately constrained against loss-of-function mutations, and the associated conditions primarily affect the central nervous system with onset in early childhood.

ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.50

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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