EGR1

Chr 5

early growth response 1

Also known as: AT225, G0S30, KROX-24, NGFI-A, TIS8, ZIF-268, ZIF268, ZNF225

NCBI Gene: 1958ENSG00000120738UniProt: P18146

The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]

1
Active trials
11
Pathogenic / LP
63
ClinVar variants
346
Pubs (1 yr)
1.9
Missense Z
0.59
LOEUF
Clinical Summary— EGR1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 47 VUS of 63 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.59LOEUF
pLI 0.351
Z-score 2.59
OE 0.23 (0.10–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.90Z-score
OE missense 0.71 (0.63–0.79)
232 obs / 329.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.23 (0.10–0.59)
0≤0.351.4
Missense OE0.71 (0.63–0.79)
0≤0.61.4
Synonymous OE0.94
0≤1.21.6
LoF obs/exp: 3 / 13.1Missense obs/exp: 232 / 329.0Syn Z: 0.54
LOF
DN
0.5869th %ile
GOF
0.3986th %ile
LOF
0.72top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

63 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS47
Likely Benign3
Benign2
10
Pathogenic
1
Likely Pathogenic
47
VUS
3
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
0
40
7
0
47
Likely Benign
0
0
2
1
3
Benign
0
0
0
2
2
Total04020363

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

EGR1 · protein map & ClinVar variants

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

Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
KCNJ2-AS1 Drives Inflammation and Ferroptosis via the miR-212-3p/EGR1 Axis in Sepsis-Associated Acute Lung Injury.
Pan Y et al.·J Biochem Mol Toxicol
2026
Ganglioside GM2 induces epithelial-mesenchymal transition (EMT) in cancer cells in a MEK/ERK/Egr1-dependent transcriptional program.
Khamrui E et al.·J Biol Chem
2026
Down-regulation of proliferation-inhibiting factor EGR1 in brain metastatic cancer cells on a soft matrix.
Omukai M et al.·Cell Struct Funct
2026
Hepatocytes functionally reprogrammed by KIAA1199-high colorectal cancer cells favour the accumulation of pro-metastatic Egr1+ neutrophils.
Li L et al.·Nat Commun
2026Functional
EGR1/miR-4306/MAT2A axis aggravates pyroptosis and extracellular matrix degradation of nucleus pulposus cells in intervertebral disc degeneration.
Qiu S et al.·Cell Biol Toxicol
2026Open Access
Top 5 resultsSearch Europe PMC ↗

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