NEUROD2

Chr 17

neuronal differentiation 2

Also known as: DEE72, EIEE72, NDRF, bHLHa1

NCBI Gene: 4761 ENSG00000171532 UniProt: Q15784

NEUROD2 encodes a basic helix-loop-helix transcription factor that regulates neuronal differentiation and development, particularly in cerebellar and hippocampal granule neurons, and is involved in establishing thalamocortical connections. Mutations cause developmental and epileptic encephalopathy 72 with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.94), reflecting its critical role in neurodevelopment.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 72

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

0.33

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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