Aliases: EGR-3, PILOT
Chromosome No: 8
Chromosome Band: 8p21.3
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 13
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
De novo damaging missense variants in the EGR3 gene were identified in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014) and the SPARK cohort (Feliciano et al., 2019). A meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA identified EGR3 as a gene with a false discovery rate 0.2.
Molecular Function
This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development.