EGR3
Chr 8early growth response 3
Also known as: EGR-3, PILOT
The protein is a transcription factor with C2H2-type zinc fingers that regulates gene expression controlling biological rhythms and is involved in muscle spindle development, muscle development, lymphocyte development, and neuronal development. Mutations cause autosomal dominant disorders, though specific associated diseases are not well-established in the provided data. This gene is highly constrained against loss-of-function variation (pLI 0.95, LOEUF 0.31), suggesting that haploinsufficiency is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
130 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 79 | 0 | 79 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 1 | 26 | 9 | 0 | 36 |
Likely Benign | 0 | 0 | 1 | 3 | 4 |
Benign | 0 | 0 | 0 | 4 | 4 |
| Total | 1 | 26 | 93 | 7 | 127 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EGR3 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools