Aliases: erg-3, p55
Chromosome No: 21
Chromosome Band: 21q22.2
Genetic Category: Genetic association
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 9
Evidence score: null
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Relevance to Autism
A SNP within the ERG gene showed association in the secondary analyses in a combined AGP GWA sample (Anney et al., 2012).
Molecular Function
This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells.
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