HMGA2
This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Full Name
High Mobility Group AT-Hook 2
Function
Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity).
Positively regulates IGF2 expression through PLAG1 and in a PLAG1-independent manner (PubMed:28796236).
Biological Process
Base-excision repair Source: UniProtKB
Cell division Source: UniProtKB-KW
Chondrocyte differentiation Source: UniProtKB
Chondrocyte proliferation Source: UniProtKB
Chromatin organization Source: UniProtKB
Chromosome breakage Source: UniProtKB
Chromosome condensation Source: UniProtKB-KW
Endodermal cell differentiation Source: UniProtKB
Epithelial to mesenchymal transition Source: UniProtKB
Fat cell differentiation Source: UniProtKB
Heterochromatin assembly Source: UniProtKB
Histone H2A-S139 phosphorylation Source: UniProtKB
Mesenchymal cell differentiation Source: UniProtKB
Mesodermal cell differentiation Source: UniProtKB
Mesodermal-endodermal cell signaling Source: UniProtKB
Mitotic G2 DNA damage checkpoint signaling Source: UniProtKB
Negative regulation by host of viral transcription Source: UniProtKB
Negative regulation of apoptotic process Source: UniProtKB
Negative regulation of cellular senescence Source: BHF-UCL
Negative regulation of DNA binding Source: UniProtKB
Negative regulation of double-strand break repair via nonhomologous end joining Source: UniProtKB
Negative regulation of single stranded viral RNA replication via double stranded DNA intermediate Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Oncogene-induced cell senescence Source: UniProtKB
Positive regulation of angiogenesis Source: BHF-UCL
Positive regulation of apoptotic process Source: UniProtKB
Positive regulation of cell proliferation in bone marrow Source: BHF-UCL
Positive regulation of cellular response to X-ray Source: UniProtKB
Positive regulation of gene expression Source: UniProtKB
Positive regulation of protein serine/threonine kinase activity Source: UniProtKB
Positive regulation of response to DNA damage stimulus Source: UniProtKB
Positive regulation of stem cell proliferation Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Regulation of cell cycle process Source: UniProtKB
Regulation of growth Source: UniProtKB-KW
Regulation of stem cell population maintenance Source: UniProtKB
Regulation of transcription, DNA-templated Source: UniProtKB
Response to virus Source: UniProtKB
Stem cell differentiation Source: UniProtKB
Cellular Location
Nucleus
Involvement in disease
Silver-Russell syndrome 5 (SRS5):
A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS5 inheritance is autosomal dominant.
A chromosomal aberration involving HMGA2 is associated with a subclass of benign mesenchymal tumors known as lipomas. Translocation t(3;12)(q27-q28;q13-q15) with LPP is shown in lipomas. HMGA2 is also fused with a number of other genes in lipomas.
A chromosomal aberration involving HMGA2 is associated with pulmonary chondroid hamartomas. Translocation t(3;12)(q27-q28;q14-q15) with LPP is detected in pulmonary chondroid hamartomas.
A chromosomal aberration involving HMGA2 is associated with parosteal lipomas. Translocation t(3;12)(q28;q14) with LPP is also shown in one parosteal lipoma.
A chromosomal aberration involving HMGA2 is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with RAD51B. Chromosomal rearrangements involving HMGA2 do not seem to be the principle pathobiological mechanism in uterine leiomyoma.
PTM
Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity. Phosphorylated by NEK2 (By similarity).