2q22

2q22 is a cytogenetic location on the long arm (q) of human chromosome 2. In cytogenetics, chromosomal bands such as 2q22 are used to describe the regional position of genes, deletions, duplications, and other structural rearrangements. The band encompasses a distinct segment of 2q and includes several genes across its sub-bands, such as 2q22.3.

A notable gene located in the 2q22 region is ZEB2 (ZEB2, zinc finger E-box-binding homeobox 2), which maps to 2q22.3. ZEB2 is implicated in development, and haploinsufficiency or pathogenic variation of ZEB2 is associated with Mowat-Wishart syndrome, a rare congenital disorder characterized by intellectual disability, distinctive facial features, and Hirschsprung disease among other features.

Clinical significance of 2q22 arises primarily through chromosomal abnormalities that affect this region. Deletions, duplications, or other rearrangements involving 2q22 can contribute to a spectrum of neurodevelopmental disorders and congenital anomalies, with specific phenotypes depending on the size of the alteration and the genes involved. Because the exact content of 2q22 can vary with the reference genome build, the coordinates are described in relation to genome builds such as GRCh37/hg19 or GRCh38/hg38.

In research and clinical practice, 2q22 is used as a reference point for genetic testing, including karyotyping, fluorescence in situ hybridization, and genome sequencing, to identify structural variants that may underlie an individual’s phenotype.