BEX2

Chr X

brain expressed X-linked 2

Also known as: BEX1, DJ79P11.1

NCBI Gene: 84707 ENSG00000133134 UniProt: Q9BXY8

The protein interacts with transcription factor LMO2 in DNA-binding complexes that recognize E-box elements and promotes transcription, while also regulating mitochondrial apoptosis and G1 cell cycle progression through modulation of BCL2 family proteins and cell cycle regulators. Currently, no definitive pediatric neurological phenotypes have been established for pathogenic BEX2 variants, though the gene shows tumor suppressor activity and is expressed in brain tissue. This X-linked gene would follow X-linked inheritance patterns, with the protein showing relatively low constraint to loss-of-function variation.

ResearchSummary from RefSeq, UniProt

This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.27

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)