EGR2 early growth response 2
Gene ID: 1959, updated on 4-Jan-2025Gene type: protein coding
Also known as: AT591; CMT1D; CMT4E; KROX20
- See all available tests in GTR for this gene
- Go to complete Gene record for EGR2
- Go to Variation Viewer for EGR2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. GeneReviews: Not available | |
| Charcot-Marie-Tooth disease type 1D | See labs |
| Charcot-Marie-Tooth disease type 4E | See labs |
| Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. GeneReviews: Not available | |
| Dejerine-Sottas disease | See labs |
| Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. GeneReviews: Not available | |
| Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2011-11-28) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2011-11-28) ClinGen Genome Curation Page |
Genomic context
- Location:
- 10q21.3
- Sequence:
- Chromosome: 10; NC_000010.11 (62811996..62819167, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EGR2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EGR2 homepage - Leiden Muscular Dystrophy pages
- IPN Mutations, EGR2
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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