HES2

Chr 1

hes family bHLH transcription factor 2

Also known as: bHLHb40

NCBI Gene: 54626ENSG00000069812UniProt: Q9Y543

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of neurogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.72
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.72LOEUF
pLI 0.003
Z-score 0.33
OE 0.84 (0.41–1.72)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.84Z-score
OE missense 0.70 (0.55–0.90)
43 obs / 61.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.84 (0.41–1.72)
0≤0.351.4
Missense OE?0.70 (0.55–0.90)
0≤0.61.4
Synonymous OE?0.77
0≤1.21.6
LoF obs/exp: 4 / 4.8Missense obs/exp: 43 / 61.5Syn Z: 1.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HES2 · 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