DiGeorge syndrome critical region gene 2 (DGCR2)

DGCR2 (DiGeorge syndrome critical region gene 2) encodes an integral membrane protein believed to function as a putative adhesion receptor involved in cell-cell and cell-matrix interactions essential for normal cell differentiation and migration. It plays a key developmental role in neural crest cell migration, cardiac and thymic development, and neural circuit formation. Deletions or changes in DGCR2 within the 22q11.2 chromosomal region cause defects seen in DiGeorge syndrome, including congenital heart disease, thymic deficiency, and neuropsychiatric disorders like schizophrenia and intellectual disability. DGCR2 expression has also been mapped to pancreatic β-cells and is a candidate marker for non-invasive diabetes diagnostics. The molecular properties and broad involvement in development make DGCR2 both a potential disease biomarker and a target for future research.

Other names

Integral membrane protein DGCR2/IDDIDDKIAA0163LANDGS-CSEZ-12DiGeorge syndrome critical region protein 2integral membrane protein deleted in DiGeorge syndrome9930034O06RikmKIAA0163