HES4

Chr 1

hes family bHLH transcription factor 4

Also known as: bHLHb42

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in anterior/posterior pattern specification and negative regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
1.95
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.95LOEUF
pLI 0.000
Z-score -1.22
OE 1.70 (0.821.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.47Z-score
OE missense 1.14 (0.971.34)
103 obs / 90.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.70 (0.821.95)
00.351.4
Missense OE?1.14 (0.971.34)
00.61.4
Synonymous OE?1.27
01.21.6
LoF obs/exp: 6 / 3.5Missense obs/exp: 103 / 90.4Syn Z: -1.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HES4 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →