NEUROD2

Chr 17q12

neuronal differentiation 2

Aliases:: NDRF, bHLHa1
MANE:: ENST00000302584.5

OMIM: 601725 ↗NCBI: 4761 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NEUROD2 · Q15784

v62025-08-01

Predicted Aligned Error matrix for NEUROD2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.1/ 100

Low

382 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)6%
Low(50–70)25%
Very low(< 50)48%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.63
early-infantile DEE
0.38
neurodegenerative disease
0.32
hereditary disease
0.19
type 2 diabetes mellitus
0.18
smoking initiation
0.16
diabetes mellitus
0.12
metabolic dysfunction-associated steatotic liver disease
0.11
undetermined early-onset epileptic encephalopathy
0.08
Dysequilibrium syndrome
0.08

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

Protein function (UniProt)

Neurogenic differentiation factor 2

Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differentiation; prevents the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Induces transcription of ZEB1, which in turn represses neuronal differentiation by down-regulating REST expression. Plays a role in the establishment and maturation of thalamocortical connections; involved in the segregation of thalamic afferents into distinct barrel domains within layer VI of the somatosensory cortex. Involved in the development of the cerebellar and hippocampal granular neurons, neurons in the basolateral nucleus of amygdala and the hypothalamic-pituitary axis. Associates with chromatin to the DPYSL3 E box-containing promoter (By similarity)