What gene is located at 22q12?

The gene located at 22q12 is known as EWSR1. This gene is crucial in a variety of biological processes and is often associated with specific translocations that can lead to the development of certain types of sarcomas, such as Ewing's sarcoma. The EWSR1 gene encodes an RNA-binding protein that is involved in the regulation of gene expression and serves as a potential oncogene when inappropriately expressed or mutated, often due to rearrangements with other genes.

Understanding the significance of EWSR1 also provides important insight into its role in molecular diagnostics, particularly in identifying malignancies associated with the gene's rearrangements. The locations of the other genes mentioned do not align with 22q12; for instance, BCR is linked to 22q11, which is involved in chronic myeloid leukemia due to its fusion with the ABL gene. Similarly, both PML and RET have different chromosomal locations and associations with different cancer types. Thus, identifying EWSR1 at 22q12 is central to understanding its role in molecular biology and its clinical implications.