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FLASH GENE
Symbol H19 contributors: mct/npt - updated : 19-06-2014
HGNC name H19, imprinted maternally expressed transcript (non-protein coding)
HGNC id 4713
ASSOCIATED DISORDERS
corresponding disease(s) BWS , IH , SRS11 , WT2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional imprinting      
hypo or hypermethylated in 2-7p100 BWS (increased risk of tumors in patients with hypermethylation)
tumoral imprinting      
imprinted domain, silenced and hypermethylated in most Wilms tumor
tumoral imprinting      
hypomethylated in begnin ovarian teratoma and bladder carcinoma
constitutional   deletion    
in Beckwith-Wiedemann syndrome (with loss of IGF2 imprinting and of target sites of CTCF)
tumoral imprinting      
loss of imprinting in hepatocellular carcinoma
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS