The ADGRB2 gene encodes Adhesion G Protein-Coupled Receptor B2, a seven-span transmembrane orphan receptor belonging to the secretin receptor family. This protein, also known as BAI2, is found specifically in the brain and functions as an inhibitor of angiogenesis. It is involved in the G protein-coupled receptor signaling pathway and the cell surface receptor signaling pathway. Based on its function and localization, it is believed to play a role in the positive regulation of synapse assembly and peripheral nervous system development.
The ADGRB2 gene is located on the short arm of chromosome 1. It spans a length of 37.7 kb of DNA and its coding sequence is spread across 32 exons. The gene encodes a 172.6 kDa protein product consisting of 1585 amino acids. Four isoforms of the ADGRB2 protein exist due to alternatively spliced transcript variants. ADGRB2 is found to be specifically expressed in the brain and cerebrospinal fluid.
Monies et al. (2017) described the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 2-year-old male, presented with macrocephaly, fine/gross motor delay, speech delay and hypotonia. Whole exome sequencing helped identify a heterozygous mutation (c.21+1G>C) in exon 3 of the patient’s ADGRB2 gene. This gene mutation was considered a candidate for pathogenicity due to several reasons: it was a novel potentially truncating variant; and the ADGRB2 gene was found to be significantly enriched in the brain. The authors noted that further studies are required to confirm this association.
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