Gene: EGR2

Alternate names for this Gene: AT591|CHN1|CMT1D|CMT4E|KROX20

Gene 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q21.3

Description of this Gene: early growth response 2

Type of Gene: protein-coding

rs61865900 in EGR2 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs104894159 in EGR2 gene and Charcot-Marie-Tooth disease, Type 1D (disorder) PMID 15241803 2004 Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

PMID 15947997 2005 Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

PMID 9537424 1998 Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

PMID 11239949 2001 A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.

PMID 10762521 2000 Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

PMID 12736090 2003 Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.

PMID 10502832 1999 A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.

rs113764414 in EGR2 gene and Child Development Disorders, Pervasive PMID 30804558 2019 Identification of common genetic risk variants for autism spectrum disorder.

rs104894161 in EGR2 gene and Dejerine-Sottas Disease (disorder) PMID 10371530 1999 A de novo missense mutation (Arg359Trp) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS.

rs10761674 in EGR2 gene and Duration of sleep PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

rs1980663 in EGR2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs224278 in EGR2 gene and Ewings sarcoma PMID 22327514 2012 Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.

rs104894161 in EGR2 gene and Hereditary Motor and Sensory Neuropathy Type I PMID 10371530 1999 Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

PMID 16198564 2005 Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.

PMID 11523566 2001 EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.

PMID 15947997 2005 Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

PMID 27159987 2016 EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

PMID 10369870 1999 Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

PMID 17717711 2007 Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

PMID 22765307 2013 Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients.

PMID 25720245 2014 The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.

PMID 20513111 2010 Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2.

PMID 12609493 2003 Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter.

PMID 10762521 2000 Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.

PMID 11239949 2001 Its mutation was a different amino acid substitution at codon 381 (Arg381His) which demonstrated congenital hypomyelinating neuropathy or early-onset CMT1.

PMID 12471219 2002 Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.

PMID 26204789 2015 The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

PMID 9537424 1998 Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

PMID 27013732 2016 Survey of variation in human transcription factors reveals prevalent DNA binding changes.

rs2136613 in EGR2 gene and Immunoglobulin A deficiency (disorder) PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

rs104894158 in EGR2 gene and NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE PMID 9537424 1998 Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

PMID 22522483 2012 Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.

rs2136613 in EGR2 gene and Selective immunoglobulin A deficiency PMID 27723758 2016 Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.