Identity

Abstract
HMGA2, the High Mobility Group A2 gene, is a non-histone and architectural transcription factor. As an oncofetal protein, HMGA2 plays an important role in development and contributes to the tumorigenesis of many epithelial and mesenchymal tumors. Upregulation of HMGA2 by non-random chromosomal translocations is common in mesenchymal tumors, whereas by the altered transcription regulation is likely the major mechanism in malignant epithelial tumors and it involves much more complex mechanisms. HMGA2 directly and indirectly regulates the multiple biological and oncogenic pathways. Its oncogenic property remains to be fully characterized.
DNA/RNA

Description
Transcription
Proteins

Description

Expression

Localisation

Function

Homology


Mutations
Germinal
8-year-old boy had a de novo pericentric inversion of chromosome 12, with breakpoints at p11.22 and q14.3. The phenotype included extreme somatic overgrowth, advanced endochondral bone and dental ages, a cerebellar tumour, and multiple lipomas. His chromosomal inversion was found to truncate HMGA2, which maps to the 12q14.3 breakpoint.
Implicated in



Overexpression of HMGA2 is associated with early tumorigenesis, tumor cell proliferation, invasion and worse outcome through regulation of cell cycle, epithelial to mesenchymal transition (Wu et al. 2011).
Inhibition of PAR1 signaling suppresses HMGA2-driven invasion in breast cancer cells (Yang et al. 2015).
Overexpression of HMGA2 is associated with metastasis and unequivocally occurred in parallel with reduced survival rates of patients with colorectal carcinoma (Wang et al. 2011).
HMGA2 promotes the transformation of lung cancer cells independent of protein-coding function. Tgfbr3 expression is regulated by the Hmga2 ceRNA through differential recruitment to Argonaute 2 (AGO2), and TGF-β signalling driven by Tgfbr3 is important for Hmga2 to promote lung cancer progression (Kumar et al. 2014).
Breakpoints


Article Bibliography
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|---|---|---|---|
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| 8889500 | 1996 | Translocation breakpoints upstream of the HMGIC gene in uterine leiomyomata suggest dysregulation of this gene by a mechanism different from that in lipomas. | Schoenberg Fejzo M et al |
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| 12021922 | 2002 | Translocation of the HMGI-C ( HMGA2) gene in a benign mesenchymoma (chondrolipoangioma). | Van Dorpe J et al |
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| 23686260 | 2013 | HMGA2 and high-grade serous ovarian carcinoma. | Wu J et al |
| 21224353 | 2011 | HMGA2 overexpression-induced ovarian surface epithelial transformation is mediated through regulation of EMT genes. | Wu J et al |
| 26165842 | 2016 | Dysregulated protease activated receptor 1 (PAR1) promotes metastatic phenotype in breast cancer through HMGA2. | Yang E et al |
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Other Information
Locus ID:
NCBI: 8091
MIM: 600698
HGNC: 5009
Ensembl: ENSG00000149948
Variants:
dbSNP: 8091
ClinVar: 8091
TCGA: ENSG00000149948
COSMIC: HMGA2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37461232 | 2024 | Keratin-Positive Giant Cell-Rich Tumor of Bone Harboring an HMGA2::NCOR2 Fusion: Two Cases, Including a Patient With Metastatic Disease, and Review of the Literature. | 2 |
| 37822284 | 2024 | CircDLGAP4 overexpression ameliorates neuronal injury in Parkinson's disease by binding to EIF4A3 and increasing HMGA2 expression. | 0 |
| 37849332 | 2024 | Expanding the histological spectrum of salivary gland neoplasms with HMGA2::WIF1 fusion emphasising their malignant potential: a report of eight cases. | 0 |
| 38151824 | 2024 | Exosomal circFAM63Bsuppresses bone regeneration of postmenopausal osteoporosis via regulating miR-578/HMGA2 axis. | 1 |
| 38266920 | 2024 | SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors. | 0 |
| 38378354 | 2024 | Effects of HMGA2 on the biological characteristics and stemness acquisition of gastric cancer cells. | 0 |
| 38506034 | 2024 | The role of HMGA2 in activating the IGFBP2 expression to promote angiogenesis and LUAD metastasis via the PI3K/AKT/VEGFA signaling pathway. | 0 |
| 38516887 | 2024 | Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome. | 0 |
| 38802807 | 2024 | Association of deletion polymorphism rs10573247 in the HMGA2 gene with the risk of breast cancer: bioinformatic and experimental analyses. | 0 |
| 38811851 | 2024 | Chromatin modifier Hmga2 promotes adult hematopoietic stem cell function and blood regeneration in stress conditions. | 0 |
| 37461232 | 2024 | Keratin-Positive Giant Cell-Rich Tumor of Bone Harboring an HMGA2::NCOR2 Fusion: Two Cases, Including a Patient With Metastatic Disease, and Review of the Literature. | 2 |
| 37822284 | 2024 | CircDLGAP4 overexpression ameliorates neuronal injury in Parkinson's disease by binding to EIF4A3 and increasing HMGA2 expression. | 0 |
| 37849332 | 2024 | Expanding the histological spectrum of salivary gland neoplasms with HMGA2::WIF1 fusion emphasising their malignant potential: a report of eight cases. | 0 |
| 38151824 | 2024 | Exosomal circFAM63Bsuppresses bone regeneration of postmenopausal osteoporosis via regulating miR-578/HMGA2 axis. | 1 |
| 38266920 | 2024 | SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors. | 0 |
Citation
Jian-Jun Wei
HMGA2 (high mobility group AT-hook 2)
Atlas Genet Cytogenet Oncol Haematol. 2015-10-01
Online version: http://atlasgeneticsoncology.org/gene/82
Historical Card
2005-12-01 HMGA2 (high mobility group AT-hook 2) by Karin Broberg  Affiliation
2000-05-01 HMGA2 (high mobility group AT-hook 2) by Florence Pedeutour  Affiliation
