HMGA2
Description
The HMGA2 (high mobility group AT-hook 2) is a protein-coding gene located on chromosome 12.
HMGA2 is a protein encoded by the HMGA2 gene in humans. It belongs to the non-histone chromosomal high-mobility group (HMG) protein family. HMGA2 acts as an architectural factor within the enhanceosome, a complex involved in gene regulation. It contains DNA-binding domains and functions as a transcriptional regulator. Variations in the gene, including deletions, amplifications, and rearrangements, have been linked to lipomas, suggesting a role in fat cell development and mesenchymal cell differentiation. Studies in mice have shown that HMGA2 is involved in diet-induced obesity. Different isoforms of HMGA2 are produced through alternative splicing. HMGA2 expression in adult tissues is often associated with both benign and malignant tumor formation, and specific mutations can contribute to cancer development. Homologous proteins with similar sequences are found in other mammals, including mice. HMGA2 binds to AT-rich regions of DNA using its three AT-hook domains. While it doesn't directly activate or repress gene transcription, it alters DNA structure and helps assemble protein complexes that regulate gene expression.
HMGA2 is also known as BABL, HMGI-C, HMGIC, LIPO, SRS5, STQTL9.
Associated Diseases
- 12q14 microdeletion syndrome
- Well-differentiated liposarcoma
- Silver-Russell syndrome 5
- Silver-Russell syndrome due to a point mutation
