Gene
NEUROD2
neuronal differentiation 2
- HGNC 7763↗(opens in a new tab)
- Ensembl gene ENSG00000171532↗(opens in a new tab)
- NCBI Gene 4761↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q12
- Coordinates
- Chromosome 17: 39,603,768–39,607,920 (GRCh38)
- Exons
- 2 exons across 4.2 kb
- Protein
- 382 amino acids
- Also known as
- NDRF, bHLHa1
- MANE Select transcript
- ENST00000302584.5NM_006160.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 2 GenCC submitters rate it definitive or strong
How NEUROD2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3 kb of the gene's 4.2 kb; 1,149 of those bases code for the protein.
How a genome test reads NEUROD2
4
positions in NEUROD2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 4.2 kb of NEUROD2, introns included, not only the 3 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to NEUROD2
The Human Phenotype Ontology lists these as features of the rare conditions NEUROD2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Degeneration of cerebrum
- Delayed ability to sit
- Delayed ability to walk
- Epilepsy
- Global developmental delay
- Hypsarrhythmia
- Infantile spasms
- Epileptic encephalopathy
Show 39 more traits
- Focal motor seizure
- Generalized myoclonic seizure
- Intellectual disability
- Delayed CNS myelination
- Difficulty sleeping
- EEG abnormality
- EEG with burst suppression
- Focal tonic seizure
- Hyperactive movements
- Inability to walk
- Increased reflexes
- Lethargy
- Periventricular white matter hyperintensities
- Poor eye contact
- Underdevelopment of part of brain called corpus callosum
- Autism spectrum disorder
- Brief seizures with staring spells
- Choreoathetosis
- Degeneration of cerebellum
- Delayed myelination
- Diffuse cerebral atrophy
- Diffuse white matter abnormalities
- Disorder of involuntary muscle movements
- EEG with spike-wave complexes
- Episodic ataxia
- Febrile seizure (within the age range of 3 months to 6 years)
- Fewer and broader ridges in brain
- Generalized clonic seizure
- Generalized tonic seizure
- Grand mal seizures
- Jerking
- Loss of developmental milestones
- More active than typical
- Seizure affecting one half of brain
- Self-injurious behavior
- Sudden loss of muscle tone
- Tremor
- Uni- and bilateral multifocal epileptiform discharges
- Dystonia
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). NEUROD2 gene: neuronal differentiation 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/neurod2
Dante Labs. NEUROD2 gene: neuronal differentiation 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/neurod2
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