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FLASH GENE
Symbol HMGA2 contributors: mct/npt/pgu - updated : 03-02-2016
HGNC name high mobility group AT-hook 2
HGNC id 5009
ASSOCIATED DISORDERS
corresponding disease(s) DEL12Q14
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
RAD51L/HMGIC fusion, HEI1/HMGIC t(14;12)in uterine leiomyoma
tumoral   translocation    
t(3;12),t(12;3),t(12;4),t(8;12) in benign mesenchymal tumors (see RATT, MAR, ERV5, ALDH2, ULCR12, LPP, LHFP, COX6C), see also TSG12A)
tumoral   amplification    
in well differentiated liposarcoma
tumoral     --over  
in myelofibrosis with myeloid metaplasia and in uterine leiomyoma (associated with loss of TSC2 function)
tumoral     --over  
in thyroid carcinomas
tumoral     --over  
increased HMGA2 expression in uterine leiomyomas with 12q14-15 rearrangements
tumoral     --over  
in polycythemia vera with t(12;21)(q14;q22)
constitutional     --other  
rearrangement of HMGA1 and HMGA2 genes likely contributes to endometriosis
tumoral     --over  
in human ovarian carcinomas
tumoral     --over  
common in both early and late-stage high-grade ovarian serous papillary carcinoma
tumoral     --over  
through its relationship to epithelial-mesenchymal transition (EMT), thus seems to aggravate invasion and metastasis in gastric cancer
Susceptibility
  • to variation of adult and childhood height in the general population
  • to uterine leyomyomatosis (UL) and decreased height
  • to type 2 diabetes
  • Variant & Polymorphism SNP , other
  • common variant is associated with adult and childhood height in the general population
  • a specific TC dinucleotide repeat (TC227) in the 5 UTR of HMGA2 with both predisposition to UL with decreased height
  • increasing the risk of type 2 diabetes
  • Candidate gene for growth restriction in del 12q14 syndrome
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    represents a promising target for gene silencing therapy in ovarian cancer
    cancerurinary 
    target for therapy in human bladder cancer
    cancerdigestivecolon
    a potential molecular target to prevent colon cancer progression
    ANIMAL & CELL MODELS
  • diet induced obsity in (-/-) mice
  • Hmga2 knockout mice exhibit impaired muscle development and reduced myoblast proliferation, while overexpression of Hmga2 promotes myoblast growth