MGP Database

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MGP003454

UniProt Annotations

Entry Information
Gene Namehigh mobility group AT-hook 2
Protein Entry
UniProt IDQ1M183
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Comment=Additional isoforms seem to exist.; Name=1; Synonyms=HMGA2a; IsoId=P52926-1; Sequence=Displayed; Name=2; Synonyms=HMGA2f; IsoId=P52926-2; Sequence=VSP_042564; Name=3; Synonyms=HMGA2d'; IsoId=P52926-3; Sequence=VSP_047772; Name=4; Synonyms=HMGA2d; IsoId=P52926-4; Sequence=VSP_047773; Name=5; Synonyms=HMGA2c'; IsoId=P52926-5; Sequence=VSP_047774; Name=6; Synonyms=HMGA2c; IsoId=P52926-6; Sequence=VSP_047775;
Developmental StageExpressed predominantly during embryogenesis.
DiseaseNote=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.
DiseaseNote=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.
DiseaseNote=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.
DiseaseNote=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.
FunctionFunctions 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. {ECO:0000269|PubMed:14645522}.
InteractionQ96LA8:PRMT6; NbExp=2; IntAct=EBI-912511, EBI-912440;
PolymorphismGenetic variations in HMGA2 define the stature quantitative trait locus 9 (STQTL9) [MIM:611547]. Human height is a classic, highly heritable quantitative trait.
PtmRegulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity. Phosphorylated by NEK2 (By similarity). {ECO:0000250}.
SimilarityBelongs to the HMGA family. {ECO:0000305}.
SimilarityContains 3 A.T hook DNA-binding domains. {ECO:0000305}.
Subcellular LocationNucleus.
SubunitInteracts with E4F1. Interacts with NEK2 (By similarity). {ECO:0000250}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HMGICID82.html";
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