high mobility group protein HMGI-C; high mobility group AT-hook protein 2 (HMGA2 HMGIC)

Function

• transcriptional regulator
• role in cell cycle regulation through CCNA2
• regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity
• interacts with E4F1

Structure

• belongs to the HMGA family
• contains 3 A.T hook DNA-binding domains

Compartment

nucleus

Expression

• expressed predominantly during embryogenesis

Pathology

• chromosomal translocation t(3;12)(q27-q28;q13-q15) involving HMGA2 with LPP is associated with lipomas; HMGA2 is also fused with a number of other genes in lipomas
• chromosomal translocation t(3;12)(q27-q28;q14-q15) involving HMGA2 with LPP is associated with pulmonary chondroid hamartomas
• chromosomal translocation t(3;12)(q28;q14) involving HMGA2 with LPP is associated with parosteal lipomas
• chromosomal translocation t(12;14)(q15;q23-24) involving HMGA2 with RAD51L1 is found in uterine leiomyoma

Polymorphism

• genetic variation in HMGA2 has been associated with stature as a quantitative trait

More general terms

• high-mobility group [HMG] protein
• nonhistone chromosomal protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8091
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8091
• OMIM: https://mirror.omim.org/entry/150699
• OMIM: https://mirror.omim.org/entry/600698
• OMIM: https://mirror.omim.org/entry/611547
• UniProt: http://www.uniprot.org/uniprot/P52926.html