BARX2

Chr 11

BARX homeobox 2

NCBI Gene: 8538 ENSG00000043039 UniProt: Q9UMQ3

This gene encodes a homeobox transcription factor that binds to specific DNA sequences and may control expression of neural adhesion molecules during embryonic development of the central and peripheral nervous system. Mutations in BARX2 cause neurodevelopmental disorders with intellectual disability, often involving speech delays and behavioral abnormalities, with autosomal dominant inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.687), consistent with its role in neurodevelopment.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]

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)

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P/LP submissions

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P/LP missense

0.69

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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