| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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). SUBCELLULAR LOCATION: Nucleus. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=1; Synonyms=HMGA2a; IsoId=P52926-1; Sequence=Displayed; Name=2; IsoId=P52926-2; Sequence=VSP_042564; 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"; GENE SYNONYMS:HMGA2 HMGIC. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 109 AA; 11832 MW; F36BABE623DA4615 CRC64;
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| biopax3:xref | |
| biopax3:displayName |
HMGA2_HUMAN
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| biopax3:name |
HMGA2,
High mobility group AT-hook protein 2
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| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWPQQVVQKKPAQEETEETSSQESAEED
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| biopax3:standardName |
High mobility group protein HMGI-C
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