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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
Polymorphism:
- genetic variation in HMGA2 has been associated with stature as a quantitative trait
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
General
high-mobility group [HMG] protein
nonhistone chromosomal protein
Properties
SIZE: entity length = 109 aa
MW = 12 kD
COMPARTMENT: cell nucleus
MOTIF: A+T hook
SITE: 24-34
E4F1 interaction {44-63}
MOTIF: A+T hook
SITE: 44-54
A+T hook
SITE: 71-82
Ser phosphorylation site {S105}
Database Correlations
OMIM correlations
UniProt P52926
Pfam PF02178
Entrez Gene 8091
Kegg hsa:8091
References
- UniProt :accession P52926
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/HMGICID82.html