H19 H19 Imprinted Maternally Expressed Transcript [ (human)] - NCBI

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Create FileAdd to ClipboardAdd to Collections H19 H19 imprinted maternally expressed transcript [ Homo sapiens (human) ] Gene ID: 283120, updated on 15-Feb-2026

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Gene Sequences (FASTA) Transcript sequences (FASTA) Protein sequences(FASTA)

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Summary

Go to the top of the page Help Official Symbol H19provided by HGNC Official Full Name H19 imprinted maternally expressed transcriptprovided by HGNC Primary source HGNC:HGNC:4713 See related Ensembl:ENSG00000130600 MIM:103280; AllianceGenome:HGNC:4713 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASM; BWS; WT2; ASM1; GMRSP; D11S813E; MIR675HG; LINC00008; NCRNA00008 Summary This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Biased expression in placenta (RPKM 2773.7), adrenal (RPKM 234.1) and 2 other tissues See more Orthologs all Try the new Gene page Try the new Transcripts and proteins table

Genomic context

Go to the top of the page Help See H19 in Genome Data Viewer Location: 11p15.5 Exon count: 6

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (1995176..2001266, complement)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (2082853..2088943, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (2016406..2022496, complement)

Chromosome 11 - NC_000011.10

Genomic regions, transcripts, and products

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Genomic Sequence: NC_000011.10 Chromosome 11 Reference GRCh38.p14 Primary Assembly NW_021160004.1 Chromosome 11 Reference GRCh38.p14 PATCHES NG_016165.1 RefSeqGene NC_060935.1 Chromosome 11 Alternate T2T-CHM13v2.0 NC_000011.9 Chromosome 11 Reference GRCh37.p13 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help See details Tissue-specific circular RNA induction during human fetal development RNA sequencing of total RNA from 20 human tissues HPA RNA-seq normal tissues

• Project title: Tissue-specific circular RNA induction during human fetal development
• Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
• BioProject: PRJNA270632
• Publication: PMID 26076956
• Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

1. Long noncoding RNA H19 is up-regulated in esophageal squamous cell carcinoma and promotes cell proliferation and metastasis. Tan D, et al. Dis Esophagus, 2017 Jan 1. PMID 27247022
2. The prognostic value of long non-coding RNA H19 in various cancers: A meta-analysis based on 15 studies with 1584 patients and the Cancer Genome Atlas data. Yu H, et al. Medicine (Baltimore), 2020 Jan. PMID 31914026, Free PMC Article
3. Association between lncRNA H19 polymorphisms and cancer susceptibility based on a meta-analysis from 25 studies. Liu C, et al. Gene, 2020 Mar 1. PMID 31884107
4. Association of genetic variants in lncRNA H19 with risk of colorectal cancer in a Chinese population. Li S, et al. Oncotarget, 2016 May 3. PMID 27027436, Free PMC Article
5. LncRNA H19 functions as a competing endogenous RNA to regulate AQP3 expression by sponging miR-874 in the intestinal barrier. Su Z, et al. FEBS Lett, 2016 May. PMID 27059301

See all (570) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

1. LncRNA H19 accelerates renal fibrosis by negatively regulating the let-7b-5p/TGF-betaR1/COL1A1 axis. Title: LncRNA H19 accelerates renal fibrosis by negatively regulating the let-7b-5p/TGF-βR1/COL1A1 axis.
2. Gene Expression Profiling Regulated by lncRNA H19 Using Bioinformatic Analyses in Glioma Cell Lines. Title: Gene Expression Profiling Regulated by lncRNA H19 Using Bioinformatic Analyses in Glioma Cell Lines.
3. H19 lncRNA triggers ferroptosis, exacerbating ox-LDL-induced artery endothelial cell damage in vitro. Title: H19 lncRNA triggers ferroptosis, exacerbating ox-LDL-induced artery endothelial cell damage in vitro.
4. LncRNA H19 Promotes Gastric Cancer Metastasis via miR-148-3p/SOX-12 Axis. Title: LncRNA H19 Promotes Gastric Cancer Metastasis via miR-148-3p/SOX-12 Axis.
5. Long non-coding RNA H19X as a regulator of mononuclear cell adhesion to the endothelium in systemic sclerosis. Title: Long non-coding RNA H19X as a regulator of mononuclear cell adhesion to the endothelium in systemic sclerosis.
6. LncRNA H19 Participates in Leukemia Inhibitory Factor Mediated Stemness Promotion in Colorectal Cancer Cells. Title: LncRNA H19 Participates in Leukemia Inhibitory Factor Mediated Stemness Promotion in Colorectal Cancer Cells.
7. NKX2-1 gene is targeted by H19 lncRNA and is found to be overexpressed in benign nodular goiter tissues. Title: NKX2-1 gene is targeted by H19 lncRNA and is found to be overexpressed in benign nodular goiter tissues.
8. Emerging roles of long noncoding RNA H19 in human lung cancer. Title: Emerging roles of long noncoding RNA H19 in human lung cancer.
9. Maternal perceived stress and green spaces during pregnancy are associated with adult offspring gene (NR3C1 and IGF2/H19) methylation patterns in adulthood: A pilot study. Title: Maternal perceived stress and green spaces during pregnancy are associated with adult offspring gene (NR3C1 and IGF2/H19) methylation patterns in adulthood: A pilot study.
10. Analysis of VEGF, IGF1/2 and the Long Noncoding RNA (lncRNA) H19 Expression in Polish Women with Endometriosis. Title: Analysis of VEGF, IGF1/2 and the Long Noncoding RNA (lncRNA) H19 Expression in Polish Women with Endometriosis.

Submit: New GeneRIF Correction See all GeneRIFs (543)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Wilms tumor 1 MedGen: CN033288 OMIM: 194070 GeneReviews: Wilms Tumor Predisposition, PAX6-Related Aniridia, WT1 Disorder	Compare labs

Copy number response

Description
Copy number responseHaploinsufficency No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.EBI GWAS CatalogEBI GWAS CatalogPubMed
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.EBI GWAS CatalogEBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

• D11S813E (e-PCR)
  • UniSTS:473359

• D11S813E (e-PCR)
  • UniSTS:473360

• ECD00254 (e-PCR)
  • UniSTS:281368

• D11S813E (e-PCR)
  • UniSTS:150069

• NoName (e-PCR)
  • UniSTS:148286

• D11S4727 (e-PCR)
  • UniSTS:473682

• D11S813E (e-PCR)
  • UniSTS:148309

• D11S813E (e-PCR)
  • UniSTS:154710

• D11S813E (e-PCR)
  • UniSTS:154496

• NoName (e-PCR)
  • UniSTS:486789

• PMC310880P1 (e-PCR)
  • UniSTS:272787

• ECD00395 (e-PCR)
  • UniSTS:281506

• H19 (e-PCR), detects polymorphism
  • UniSTS:78253

• REN116494 (e-PCR)
  • UniSTS:441289

• REN116495 (e-PCR)
  • UniSTS:441290

• REN116496 (e-PCR)
  • UniSTS:441291

• REN116499 (e-PCR)
  • UniSTS:441294

• REN116500 (e-PCR)
  • UniSTS:441295

• ECD03283 (e-PCR)
  • UniSTS:284368

• REN116501 (e-PCR)
  • UniSTS:441296

• REN116502 (e-PCR)
  • UniSTS:441297

• ECD00732 (e-PCR)
  • UniSTS:281841

Homology

• NCBI Orthologs

Other Names

• H19, imprinted maternally expressed transcript (non-protein coding)
• H19, imprinted maternally expressed untranslated mRNA
• MIR675 host
• adult skeletal muscle
• glucose metabolism regulatory protein
• long intergenic non-protein coding RNA 8

Clone Names

• MGC4485

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

1. NG_016165.1 RefSeqGene

   Range 4961..7660 Download GenBank, FASTA, Sequence Viewer (Graphics), LRG_1030

RNA

1. NR_002196.3 RNA Sequence

   Status: REVIEWED

   Source sequence(s) AC051649 Related ENST00000414790.11

2. NR_131223.2 RNA Sequence

   Status: REVIEWED

   Source sequence(s) AC051649 Related ENST00000412788.6

3. NR_131224.2 RNA Sequence

   Status: REVIEWED

   Source sequence(s) AC051649, AC123789 Related ENST00000710491.1

4. NR_185828.1 RNA Sequence

   Status: REVIEWED

   Source sequence(s) AC051649

5. NR_185829.1 RNA Sequence

   Status: REVIEWED

   Source sequence(s) AC051649 Related ENST00000439725.7

6. NR_185830.1 RNA Sequence

   Status: REVIEWED

   Source sequence(s) AC051649 Related ENST00000417089.7

7. NR_185831.1 RNA Sequence

   Status: REVIEWED

   Source sequence(s) AC051649 Related ENST00000442037.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Reference GRCh38.p14 Primary Assembly

Genomic

1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

   Range 1995176..2001266 complement Download GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

1. NW_021160004.1 Reference GRCh38.p14 PATCHES

   Range 187698..193788 complement Download GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

1. NC_060935.1 Alternate T2T-CHM13v2.0

   Range 2082853..2088943 complement Download GenBank, FASTA, Sequence Viewer (Graphics)

Related sequences

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Nucleotide		Protein
Heading	Accession and Version

Additional links

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Locus-specific Databases

• H19 @ LOVD

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources

• Dryad Digital Repository
• Dryad Digital Repository

Chemical Information

• MilliporeSigma
• H19 products

Medical

• MedlinePlus Health Information
• H19 gene

Molecular Biology Databases

• Bgee database
• H19 gene expression
• BioGPS
• BioGPS
• BioGRID Open Repository of CRISPR Screens (ORCS)
• BioGRID CRISPR Screen Phenotypes (0 hits/2 screens)
• CTD: Comparative Toxicogenomics Database
• CTD: Comparative Toxicogenomics Database - H19
• Human Gene Mutation Database
• Human Gene Mutation Database
• Human eFP Browser
• Human eFP Browser
• Human eFP Browser
• Human eFP Browser
• Ingenuity Pathways Analysis
• Ingenuity Pathways Analysis
• InnateDB
• InnateDB
• InterMine
• InterMine
• Pharmacogenomics Knowledge Base
• Annotated Pharmacogenomic Information for H19 [ClinPGx]
• The Gene Wiki
• The Gene Wiki
• The Weizmann Institute of Science GeneCards and MalaCards databases
• GeneCard for H19

Research Materials

• Addgene Non-profit plasmid repository
• Get Plasmids - Addgene
• ExactAntigen/Labome
• reagents
• GenScript latest version of gene cDNA ORF Clone
• GenScript latest version of gene cDNA ORF Clone
• GeneCopoeia Inc.
• Order miRNA target clones
• Order full-length ORF clone
• Order shRNA clones
• OriGene Technologies
• Order GeneID 283120 cDNA Clone|Lysate|Protein|Antibody|RNAi

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Supplemental Content

Table of contents

• Summary
• Genomic context
• Genomic regions, transcripts, and products
• Expression
• Bibliography
• Phenotypes
• Variation
• Pathways from PubChem
• Interactions
• General gene information Markers, Clone Names, Homology
• NCBI Reference Sequences (RefSeq)
• Related sequences
• Additional links Locus-specific Databases

Genome Browsers

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Related information

• BioAssay by Target (List) BioAssays related to the gene by protein target or RNAi target
• BioAssay, by Gene target PubChem BioAssays done on the Gene target
• BioAssays, RNAi Target, Tested BioAssays that contain the gene as the target of a RNAi reagent
• Books Books
• ClinVar Related medical variations
• dbVar Link from Gene to dbVar
• Full text in PMC PMC links
• GAP GAP Links
• Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side
• Genome Related Genome
• GEO Profiles Related GEO
• GTR Tests for this gene in the NIH Genetic Testing Registry
• MedGen Related information in MedGen
• Nucleotide Link to related Nucleotide entry
• OMIM Link to related OMIM entry
• PubChem Compound PubChem Compounds
• PubChem Substance PubChem Substances
• PubMed Link to related PubMed entry
• PubMed (GeneRIF) Link to related PubMed article from GeneRIFs
• PubMed (OMIM) Gene links to PubMed derived from omim_pubmed_cited links
• RefSeq RNAs Link to Nucleotide RefSeq RNAs
• RefSeqGene Link to Nucleotide RefSeqGenes
• Related gene-specific medical variations Related medical variations
• SNP Related SNP records
• Taxonomy Link to related taxonomy entry

Links to other resources

• HGNC
• Ensembl
• AllianceGenome
• AceView
• H19 @ LOVD
• UCSC
• HuGE Navigator

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