Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
12q14.3
Protein [2]
High mobility group protein HMGI-C
Synonyms [1]
HMGIC, LIPO, SRS5, BABL, STQTL9, HMGI-C

High mobility group AT-hook 2 (HMGA2) is a gene that encodes a protein that functions as an architectural factor and a component of the enhancesome. The protein may also be a transcriptional regulator. Fusions, missense mutations, silent mutations, and nonstop extensions are observed in cancers such as breast cancer, liver cancer, and lung cancer.

HMGA2 is altered in 0.04% of all cancers with conventional glioblastoma multiforme, dedifferentiated liposarcoma, breast invasive ductal carcinoma, diffuse glioma, and high-grade glioma, NOS having the greatest prevalence of alterations [3].

HMGA2 GENIE Cases - Top Diseases

The most common alterations in HMGA2 are HMGA2 A21T (0.11%), HMGA2 P92A (0.08%), HMGA2 P32L (0.07%), HMGA2 P60L (0.07%), and HMGA2 P80S (0.09%) [3].

HMGA2 GENIE Cases - Top Alterations

Significance of HMGA2 in Diseases

Breast Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.