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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
DNA
TYPE small rna
STRUCTURE 2.66 kb     5 Exon(s)    1 Copie(s)
regulatory sequence Binding site
text structure
  • seven CTCF binding sites
  • existence of insulator in the H19 DMR(imprinting control region )
    • MAPPING cloned Y linked N status confirmed
    Map . H19 locus harbors an imprinted gene encoding a tumor suppressor protein within the long-sought WT2 locus (PMID: 21940503)
    RNA
    TRANSCRIPTS type untranslated transfer
    text untranslated messenger
    EXPRESSION
    Rna function
  • acting as a tumor suppressor (may play the role of a “modifier gene” suppressing tumorigenesis)
  • one of the earliest identified, and is the most studied, long noncoding RNAs
    • Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivemouthtongue  highly
    Lymphoid/Immunespleen   highly
    Nervousbrainbasal nucleiglobus pallidus  
     brainhindbrainpons  
    Reproductivefemale systemplacenta  highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text highly, in endodermal and mesodermal embryonic tissues
    IMPRINTING maternally, paternally
    text
  • paternally imprinted (? same as ASMG)
  • telomeric imprinting domain at 11p15, containing ASCL2, IGF2 and H19
  • methylation imprint during male germ cell development is differentially established on the paternal allele (fetal stage) and maternal (perinatal stage)
  • maternally imprinted in hemihypertrophy
    • 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)
    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