Aliases: RP11-552M11.7, A3AR, AD026, bA552M11.5
Chromosome No: 1
Chromosome Band: 1p13.2
Genetic Category: Functional-Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 5
Evidence score: 3
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Relevance to Autism
Sequencing of the ADORA3 gene in a case-control sample showed an overall increase in rare coding variants in ASD cases vs. controls (P=0.013); among the case-specific ADORA3 coding variants were two rare missense variants (Leu90Val and Val171Ile) that affected activity of SERT, the gene product of the ASD-associated gene SLC6A4 (Campbell et al., 2013).
Molecular Function
This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death.
External Links
