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FLASH GENE
Symbol H19 contributors: mct/npt - updated : 19-06-2010
HGNC name H19, imprinted maternally expressed transcript (non-protein coding)
HGNC id 4713
Corresponding disease
BWS Beckwith-Wiedemann syndrome
IH isolated body asymmetry
SRS11 Silver-Russell syndrome, chromosome 11 related
WT2 non-syndromic Wilms tumor
Location 11p15.5      Physical location : 2.016.405 - 2.019.065
Synonym name
  • H19, imprinted maternally expressed untranslated mRNA
  • DNA segment,single copy,probe H19S1
  • adult skeletal muscle gene 1
  • differentially methylated region imprinting center for domain 14
  • non-protein coding RNA 8
    • Synonym symbol(s) D11S813E, ASMG, DMR1, ASM, ASM1, NCRNA00008, PRO2605, MGC4485
    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)
    Physical map
    MGC3234 11p15.5 hypothetical protein MGC3234 AP2A2 11p15.5 adaptor-related protein complex 2, alpha 2 subunit MUC6 11p15.5 mucin 6, gastric LOC387738 11 similar to secreted gel-forming mucin LOC338731 11p15.5 hypothetical LOC338731 LOC387739 11 LOC387739 LOC387740 11 similar to Mucin 2 precursor (Intestinal mucin 2) MUC5B 11p15.5 mucin 5, subtype B, tracheobronchial TOLLIP 11p15.5 toll interacting protein STK29 11p15.5 serine/threonine kinase 29 HCCA2 11p15.5 HCCA2 protein DUSP8 11p15.5 dual specificity phosphatase 8 LOC387741 11 hypothetical gene supported by AK124823 LOC387742 11 hypothetical gene supported by AK124823 CTSD 11p15.5 cathepsin D (lysosomal aspartyl protease) LOC255701 11p15.5 similar to large subunit ribosomal protein L36a LOC390029 11 similar to A-X actin SYT8 11p15.5 synaptotagmin VIII TNNI2 11p15.5 troponin I, skeletal, fast LSP1 11p15.5 lymphocyte-specific protein 1 TNNT3 11p15.5 troponin T3, skeletal, fast MRPL23 11p15.5 mitochondrial ribosomal protein L23 LOC387743 11 LOC387743 H19 11p15.5 H19, imprinted maternally expressed untranslated mRNA IGF2 11p15.5 insulin-like growth factor 2 (somatomedin A) IGF2AS 11p15.5 insulin-like growth factor 2, antisense INS 11p15.5 insulin TH 11p15.5 tyrosine hydroxylase ASCL2 11p15.5 achaete-scute complex-like 2 (Drosophila) C11orf21 11p15.5 chromosome 11 open reading frame 21 PHEMX 11p15.5 pan-hematopoietic expression CD81 11p15.5 CD81 antigen (target of antiproliferative antibody 1) TSSC4 11p15.5 tumor suppressing subtransferable candidate 4 TRPM5 11p15.5 transient receptor potential cation channel, subfamily M, member 5 KCNQ1 11p15.5 potassium voltage-gated channel, KQT-like subfamily, member 1 CDKN1C 11p15.5 cyclin-dependent kinase inhibitor 1C (p57, Kip2) HSA404617 11p15.5 BWRT protein SLC22A1LS 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like antisense SLC22A1L 11p15.5 solute carrier family 22 (organic cation transporter), member 1-like PHLDA2 11p15.5 pleckstrin homology-like domain, family A, member 2 NAP1L4 11p15.5 nucleosome assembly protein 1-like 4
    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)
    • 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