EGR2
Homo sapiens
Gene Name: early growth response 2 (Krox-20 homolog, Drosophila)
Aliases: CMT1D, CMT4E, KROX20, FLJ14547, DKFZp686J1957
Chromosome No: 10
Chromosome Band: 10q21.3
Genetic Category: Functional-Rare single gene variant
Aliases: CMT1D, CMT4E, KROX20, FLJ14547, DKFZp686J1957
Chromosome No: 10
Chromosome Band: 10q21.3
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 2
Annotated variants: 1
Associated CNVs: 5
Evidence score: 0
ASD Reports: 5
Recent Reports: 2
Annotated variants: 1
Associated CNVs: 5
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Differential expression of the EGR2 gene has been shown to occur in some autistic individuals (Hu et al., 2006). EGR2 expression was found to be reduced in individuals with autism as well as Rett syndrome, and it appears that EGR2 and MECP2 can regulate each other's expression (Swanberg et al., 2009).
Molecular Function
The encoded protein is a Zn binding transcription factor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of n...
ASD
Highly Cited
Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20.
Recent Recommendation
Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.
ASD, RTT
Recent Recommendation
Specificity and timing of neocortical transcriptome changes in response to BDNF gene ablation during embryogenesis or adulthood.
