Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide		OMIM	UCSC

Home Page

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

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)

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)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive mouth tongue     highly Lymphoid/Immune spleen       highly Nervous brain basal nuclei globus pallidus       brain hindbrain pons     Reproductive female system placenta     highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac

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)

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