6q252

6q25.2 is a cytogenetic band located on the long arm (q arm) of chromosome 6, specifically at subband 25, subband 2. In the human genome assembly GRCh38, the region spans roughly 119,000,000 to 120,000,000 base pairs on chromosome 6. As a defined chromosomal locus, 6q25.2 serves as a reference point for cytogenetic studies, including karyotyping and fluorescence in situ hybridization (FISH).

The band contains several protein‑coding genes, among which include STXBP2, crucial for immune cell function, and SPCS2, a component of the signal peptidase complex. Other nearby genes, such as UBTF and METTL15, have been implicated in transcriptional regulation and RNA methylation, respectively. Variations in these genes or in the surrounding non‑coding DNA can influence developmental pathways.

Clinically, copy‑number changes that involve 6q25.2 (including microdeletions or microduplications) are associated with a spectrum of congenital anomalies. Reported phenotypes encompass intellectual disability, growth retardation, congenital heart defects, and, in some cases, immune dysregulation. Because of these associations, 6q25.2 is often examined in targeted microarray testing for patients with unexplained developmental delays or dysmorphic features.

Prenatally, 6q25.2 is included in panels for chromosomal microarray analyses due to its relevance in detecting pathogenic deletions or duplications that could affect fetal development. Genetic counseling for families with a known alteration in this region focuses on variable expressivity and potential recurrence risk.

Research on 6q25.2 continues to explore the functional roles of its constituent genes. Recent studies using CRISPR‑mediated genome editing have begun to dissect the contribution of specific loci within the band to cellular processes related to immune signaling and embryonic development.