Description: Homo sapiens high mobility group AT-hook 2 (HMGA2), transcript variant 1, mRNA. RefSeq Summary (NM_003483): 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]. Transcript (Including UTRs) Position: hg19 chr12:66,218,240-66,360,071 Size: 141,832 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr12:66,219,051-66,357,072 Size: 138,022 Coding Exon Count: 5
ID:HMGA2_HUMAN DESCRIPTION: RecName: Full=High mobility group protein HMGI-C; AltName: Full=High mobility group AT-hook protein 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 (By similarity). SUBUNIT: Interacts with E4F1. Interacts with NEK2 (By similarity). INTERACTION: Q96LA8:PRMT6; NbExp=2; IntAct=EBI-912511, EBI-912440; SUBCELLULAR LOCATION: Nucleus. DEVELOPMENTAL STAGE: Expressed predominantly during embryogenesis. PTM: Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity. Phosphorylated by NEK2 (By similarity). POLYMORPHISM: Genetic variations in HMGA2 define the stature quantitative trait locus 9 (STQTL9) [MIM:611547]. Human height is a classic, highly heritable quantitative trait. DISEASE: Note=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. DISEASE: Note=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. DISEASE: Note=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. DISEASE: Note=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. SIMILARITY: Belongs to the HMGA family. SIMILARITY: Contains 3 A.T hook DNA-binding domains. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HMGICID82.html";
Aorta Ramachandran S Vasan et al. JAMA : the journal of the American Medical Association 2009, Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data., JAMA : the journal of the American Medical Association.
[PubMed 19584346]
We identified 5 genetic loci harboring common variants that were associated with variation in LV diastolic dimensions and aortic root size, but such findings explained a very small proportion of variance. Further studies are required to replicate these findings, identify the causal variants at or near these loci, characterize their functional significance, and determine whether they are related to overt cardiovascular disease.
Aortic root size Vasan ,et al. 2009, Genetic Variants Associated with Cardiac Structure and Function: A Meta-analysis and Replication of Genome-wide Association Data, JAMA 2009 302- 2 : 168-78.
[PubMed 19584346]
We identified 5 genetic loci harboring common variants that were associated with variation in LV diastolic dimensions and aortic root size, but such findings explained a very small proportion of variance.
Body Height Michael N Weedon et al. Nature genetics 2007, A common variant of HMGA2 is associated with adult and childhood height in the general population., Nature genetics.
[PubMed 17767157]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P52926
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001047 core promoter binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003680 AT DNA binding GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity GO:0004677 DNA-dependent protein kinase activity GO:0005515 protein binding GO:0008134 transcription factor binding GO:0008301 DNA binding, bending GO:0031492 nucleosomal DNA binding GO:0035497 cAMP response element binding GO:0035500 MH2 domain binding GO:0035501 MH1 domain binding GO:0044212 transcription regulatory region DNA binding GO:0046332 SMAD binding GO:0051575 5'-deoxyribose-5-phosphate lyase activity GO:0070742 C2H2 zinc finger domain binding GO:0000989 transcription factor activity, transcription factor binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001837 epithelial to mesenchymal transition GO:0002062 chondrocyte differentiation GO:0003131 mesodermal-endodermal cell signaling GO:0006284 base-excision repair GO:0006325 chromatin organization GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007049 cell cycle GO:0007095 mitotic G2 DNA damage checkpoint GO:0007275 multicellular organism development GO:0009615 response to virus GO:0010564 regulation of cell cycle process GO:0010628 positive regulation of gene expression GO:0030261 chromosome condensation GO:0031052 chromosome breakage GO:0031507 heterochromatin assembly GO:0035978 histone H2A-S139 phosphorylation GO:0035986 senescence-associated heterochromatin focus assembly GO:0035987 endodermal cell differentiation GO:0035988 chondrocyte proliferation GO:0040008 regulation of growth GO:0042769 DNA damage response, detection of DNA damage GO:0043065 positive regulation of apoptotic process GO:0043066 negative regulation of apoptotic process GO:0043392 negative regulation of DNA binding GO:0043922 negative regulation by host of viral transcription GO:0045444 fat cell differentiation GO:0045766 positive regulation of angiogenesis GO:0045869 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate GO:0045892 negative regulation of transcription, DNA-templated GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048333 mesodermal cell differentiation GO:0048762 mesenchymal cell differentiation GO:0048863 stem cell differentiation GO:0051301 cell division GO:0071158 positive regulation of cell cycle arrest GO:0071864 positive regulation of cell proliferation in bone marrow GO:0090402 oncogene-induced cell senescence GO:2000036 regulation of stem cell population maintenance GO:2000648 positive regulation of stem cell proliferation GO:2000679 positive regulation of transcription regulatory region DNA binding GO:2000685 positive regulation of cellular response to X-ray GO:2000773 negative regulation of cellular senescence GO:2000774 positive regulation of cellular senescence GO:2001022 positive regulation of response to DNA damage stimulus GO:2001033 negative regulation of double-strand break repair via nonhomologous end joining GO:2001038 regulation of cellular response to drug
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Common Gene Haplotype Alleles 
