GBX2

Chr 2

gastrulation brain homeobox 2

NCBI Gene: 2637 ENSG00000168505 UniProt: P52951

This transcription factor regulates nervous system development and embryonic cell differentiation through sequence-specific DNA binding. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and developmental delay. The gene is moderately constrained against loss-of-function variants, and the associated phenotypes primarily affect the nervous system during early development.

ResearchSummary from RefSeq, UniProt

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of nervous system development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including branching involved in blood vessel morphogenesis; nervous system development; and neural crest cell migration. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

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

0.56

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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