NEUROG3

Chr 10AR

neurogenin 3

Also known as: Atoh5, Math4B, NGN-3, bHLHa7, ngn3

NCBI Gene: 50674ENSG00000122859UniProt: Q9Y4Z2OMIM: 604882

The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Diarrhea 4, malabsorptive, congenitalMIM #610370
AR
1
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.90
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.90LOEUF
pLI 0.000
Z-score -0.69
OE 1.32 (0.72–1.90)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.52Z-score
OE missense 1.13 (0.98–1.30)
143 obs / 126.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.32 (0.72–1.90)
0≤0.351.4
Missense OE?1.13 (0.98–1.30)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 7 / 5.3Missense obs/exp: 143 / 126.6Syn Z: -0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NEUROG3 · protein map & ClinVar variants

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

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