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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

HOMOLOGY

interspecies

homolog to murine H19

Homologene

FAMILY

CATEGORY

SUBCELLULAR LOCALIZATION

basic FUNCTION

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

imprinted expression is controlled by the imprinting control region 1 (ICR1) (Demars 2010)

ASSOCIATED DISORDERS

corresponding disease(s)

BWS , IH , SRS11 , WT2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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