EGR2

Chr 10

early growth response 2

Also known as: AT591, CMT1D, CMT4E, KROX20

NCBI Gene: 1959ENSG00000122877UniProt: P11161

The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeuropathy, congenital hypomyelinating, 1, autosomal recessive
UniProtCharcot-Marie-Tooth disease, demyelinating, type 1D
UniProtDejerine-Sottas syndrome

Clinical highlights

Gene-disease validity (ClinGen)
Charcot-Marie-Tooth disease · SDDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
102
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — EGR2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.60LOEUF
pLI 0.503
Z-score 2.42
OE 0.19 (0.08–0.60)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
2.44Z-score
OE missense 0.60 (0.53–0.68)
175 obs / 292.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.19 (0.08–0.60)
0≤0.351.4
Missense OE?0.60 (0.53–0.68)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 2 / 10.4Missense obs/exp: 175 / 292.6Syn Z: -0.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EGR2 · 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