Gene
EGR2
early growth response 2
- HGNC 3239↗(opens in a new tab)
- Ensembl gene ENSG00000122877↗(opens in a new tab)
- NCBI Gene 1959↗(opens in a new tab)
Summary
- Cytogenetic location
- 10q21.3
- Coordinates
- Chromosome 10: 62,811,996–62,816,366 (GRCh38)
- Exons
- 2 exons across 4.4 kb
- Protein
- 476 amino acids
- Previous symbols
- KROX20
- MANE Select transcript
- ENST00000242480.4NM_000399.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Charcot-Marie-Tooth Disease
One of 62 genes linked to it
A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features
How EGR2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3 kb of the gene's 4.4 kb; 1,431 of those bases code for the protein.
How a genome test reads EGR2
15
positions in EGR2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 4.4 kb of EGR2, introns included, not only the 3 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- AIFM1apoptosis inducing factor mitochondria associated 1Shares 1 condition
- ATP1A1ATPase Na+/K+ transporting subunit alpha 1Shares 1 condition
- CADM3cell adhesion molecule 3Shares 1 condition
- COX6A1cytochrome c oxidase subunit 6A1Shares 1 condition
- DHTKD1dehydrogenase E1 and transketolase domain containing 1Shares 1 condition
- DHX9DExH-box helicase 9Shares 1 condition
- DNM2dynamin 2Shares 1 condition
- DRP2dystrophin related protein 2Shares 1 condition
- DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 1 condition
- FBLN5fibulin 5Shares 1 condition
- FGD4FYVE, RhoGEF and PH domain containing 4Shares 1 condition
Traits linked to EGR2
The Human Phenotype Ontology lists these as features of the rare conditions EGR2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent reflexes
- Decreased motor nerve conduction velocity
- Decreased sensory nerve conduction velocity
- Impaired distal vibration sensation
- Motor delay
- Myelin tomacula
- Onion bulb formation
- Peripheral demyelination
Show 11 more traits
- Peripheral neuropathy
- Segmental peripheral demyelination/remyelination
- Sensory ataxia
- Wide based walk
- Abnormal cranial nerve morphology
- Decreased number of peripheral myelinated nerve fibers
- Decreased reflex response
- Decreased sensation in extremities
- High stepping
- Hypertrophic nerve changes
- Peripheral hypomyelination
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). EGR2 gene: early growth response 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/egr2
Dante Labs. EGR2 gene: early growth response 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/egr2
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