NEUROG3

Chr 10q22.1

neurogenin 3

Aliases:: Atoh5, Math4B, ngn3, bHLHa7
MANE:: ENST00000242462.5

OMIM: 604882 ↗NCBI: 50674 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

NEUROG3 · Q9Y4Z2

v62025-08-01

Predicted Aligned Error matrix for NEUROG3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.0/ 100

Low

214 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)7%
Low(50–70)42%
Very low(< 50)21%

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
BIALLELIC, autosomal or pseudoautosomal
Familial diabetes
BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes
BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes
BIALLELIC, autosomal or pseudoautosomal
Multi-organ autoimmune diabetes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital malabsorptive diarrhea 4
0.68
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
0.64
neurodegenerative disease
0.53
type 2 diabetes mellitus
0.50
diabetes mellitus
0.45
permanent neonatal diabetes mellitus
0.38
Hirsutism
0.28
hereditary disease
0.19
diabetic retinopathy
0.15
Myelopathy
0.13

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

Protein function (UniProt)

Neurogenin-3

Is a transcriptional regulator involved in the control of enteroendocrine cell differentiation (PubMed:21378176). Together with NKX2-2, initiates transcriptional activation of NEUROD1 (PubMed:16855267, PubMed:21378176). Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity)