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FLASH GENE
Symbol IGF2 contributors: mct/npt/pgu - updated : 22/10/2008
HGNC name insulin-like growth factor 2 (somatomedin A)
HGNC id 5466
ASSOCIATED DISORDERS
corresponding disease(s) BWS , SRS11 , IH
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOI    
biallelic expression in fetal brain, in Wilms tumor in colorectal cancer
tumoral     --over  
in non islet tumor hypoglycemia in overgrowth syndrome
constitutional     --other  
highly expressed in both proliferating and involuting phase hemangioma, without loss of imprinting, but is not detectable in other vascular lesions such as pyogenic granuloma, venous malformation, lymphatic malformation, or in normal infant skin
tumoral     --over  
Duplication of the paternal IGF2 allele in trisomy 11 and elevated expression levels of IGF2 mRNA in congenital mesoblastic nephroma of the cellular or mixed type.
tumoral   LOI    
leading to abnormal activation of the normally silent maternal allele, and associated with a 5-fold increased frequency of colorectal neoplasia
tumoral   LOI    
in laryngeal squamous cell carcinoma
tumoral imprinting      
gain of imprinting in hepatocellular carcinoma
tumoral       loss of function
by hypomethylation (is highly prevalent in cancer and is an acquired somatic epimutation and therefore a useful indicator of breast and colorectal cancer)
constitutional       loss of function
concomitant of MYOD1 and IGF2 accelerates differentiation of a brown preadipocyte cell line and induces lipid accumulation and increased UCP1 and PRDM16 expression
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
osteoarticularboneostéoporosis
combination of GDF2 and IGF2 may be explored as an effective bone-regeneration agent to treat large segmental bony defects, nonunion fracture, and/or osteoporotic fracture
ANIMAL & CELL MODELS
small placenta in mice knock-out Igf2-/-