The AHNAK2 gene encodes a large nucleoprotein with a tripartite domain structure. Its relatively short N-terminal contains a PDZ domain, and is separated from the long C-terminal by a large body of repeats. The PDZ domain helps the AHNAK2 protein exist as a stable homodimer. While AHNAK2 has not yet been fully characterized, it is believed to associate with calcium channel proteins and play a role in calcium signaling.
The AHNAK2 gene is located on the long arm of chromosome 14. It spans a length of 41.1 kb of DNA and its coding sequence is spread across 8 exons. The gene encodes a 616 kDa protein product consisting of 5795 amino acids. Several additional isoforms of the AHNAK2 protein exist due to alternatively spliced transcript variants. The gene is found to be widely expressed in the human body.
Monies et al. (2017) described the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One male patient presented with dysmorphic features, mitral regurgitation and skeletal deformities. His parents were consanguineous and he had a family history of this phenotype. Whole exome sequencing helped identify a homozygous mutation (c.6436_6437insGG, p.L2146fs) in exon 7 of the patient’s AHNAK2 gene. This gene mutation was considered a candidate for pathogenicity due to several reasons: it was a novel variant located within the autozygome and was predicted to be deleterious; and the AHNAK2 gene influences the secretion of FGF1, a protein known to play a role in skeletal development. The author noted the need for independent confirmation of this association.
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