NEUROG2

Chr 4

neurogenin 2

Also known as: Atoh4, Math4A, NGN2, bHLHa8, ngn-2

NCBI Gene: 63973ENSG00000178403UniProt: Q9H2A3OMIM: 606624

This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012]

OMIMResearchGenerating clinical summary…

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.
0
Active trials
23
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.54
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.54LOEUF
pLI 0.811
Z-score 2.17
OE 0.00 (0.00–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.43Z-score
OE missense 0.90 (0.79–1.04)
140 obs / 155.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.54)
0≤0.351.4
Missense OE?0.90 (0.79–1.04)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 0 / 5.5Missense obs/exp: 140 / 155.0Syn Z: -0.98

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NEUROG2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients