EN2

Chr 7

engrailed homeobox 2

NCBI Gene: 2020 ENSG00000164778 UniProt: P19622

The EN2 protein is a homeodomain-containing transcription factor that controls pattern formation during central nervous system development. Mutations in EN2 have been associated with autism spectrum disorders and cerebellar abnormalities, with autosomal dominant inheritance reported in some families. The gene shows moderate constraint against loss-of-function variants (pLI = 0.63), reflecting its developmental importance.

ResearchSummary from RefSeq

Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDisputedevidence questions this relationship

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

—

P/LP missense

0.63

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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