Autism Susceptibility Candidate 2 (AUTS2)

The predicted 1,259-amino acid protein contains 2 proline-rich domains and regions that share homology with the dwarfin family consensus sequence and with topoisomerase. It has a PY motif, several putative phosphorylation sites and N-myristoylation sites, and 2 putative N-glycosylation sites.

The AUTS2 protein shares 93% amino acid identity with its murine homolog. Northern blot analysis detected strong expression of 7.5- and 8.0-kb transcripts in fetal and adult brain. KIAA0442 was also strongly expressed in skeletal muscle and kidney, with lower levels in placenta, lung, and leukocytes. In fetal brain, KIAA0442 was expressed in frontal, parietal, and temporal lobes, but not in the occipital lobe.