NEUROD1

Chr 2q31.3

neuronal differentiation 1

Aliases:: BETA2, BHF-1, NeuroD, bHLHa3, MODY6
MANE:: ENST00000295108.4

OMIM: 601724 ↗NCBI: 4760 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

NEUROD1 · Q13562

v62025-08-01

Predicted Aligned Error matrix for NEUROD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.1/ 100

Low

356 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)5%
Low(50–70)27%
Very low(< 50)44%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Diabetes with additional phenotypes suggestive of a monogenic aetiology
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Familial diabetes
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic diabetes
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neonatal diabetes
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
Multi-organ autoimmune diabetes
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

maturity-onset diabetes of the young type 6
0.72
type 2 diabetes mellitus
0.67
MODY
0.66
neurodegenerative disease
0.53
maturity-onset diabetes of the young
0.51
retinitis pigmentosa
0.39
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
0.38
permanent neonatal diabetes mellitus
0.38
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
0.38
retinal disorder
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Neurogenic differentiation factor 1

Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity)