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 ass... See more...

Aliases for H19 Gene

Subcategory (RNA class) for H19 Gene

lncRNA

Number of RNA Genes sources:

4 / 17

Aliases for H19 Gene

  • H19 Imprinted Maternally Expressed Transcript 2 3 5
  • H19 2 5 165
  • H19, Imprinted Maternally Expressed Transcript (Non-Protein Coding) 2 3
  • H19, Imprinted Maternally Expressed Untranslated MRNA 2 3
  • Long Intergenic Non-Protein Coding RNA 8 2 3
  • Adult Skeletal Muscle 2 3
  • NCRNA00008 2 3
  • LINC00008 2 3
  • D11S813E 2 3
  • MIR675HG 2 3
  • ASM1 2 3
  • ASM 2 3
  • Non-Protein Coding RNA 8 2
  • MIR675 Host Gene 2
  • NONHSAG007409.2 91
  • HSALNG0082178 164
  • MIR675 Host 3
  • BWS 3
  • WT2 3

External Ids for H19 Gene

Additional External Ids for H19 Gene

Previous GeneCards Identifiers for H19 Gene

  • GC11U990149
  • GC11M001980
  • GC11M001972
  • GC11M001976
  • GC11M002016
  • GC11M001807

Summaries for H19 Gene

Entrez Gene Summary for H19 Gene

  • 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]

GeneCards Summary for H19 Gene

H19 (H19 Imprinted Maternally Expressed Transcript) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with H19 include Hemihyperplasia, Isolated and Beckwith-Wiedemann Syndrome.

Gene Wiki entry for H19 Gene

Rfam classification for H19 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary and piRNA Summary for H19 Gene

Genomics for H19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for H19 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J001985 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.4 +8.8 8781 15.3 HNRNPL GATAD2A ZBTB33 ATF7 TFE3 SOX13 IKZF1 NFKBIZ CTCF ZNF692 MRPL23-AS1 LINC01219 H19 IGF2 TSPAN32 SYT8 ENSG00000274866 ENSG00000275266 MIR675 NONHSAG007404.2
GH11J002000 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 600.7 -0.1 -56 2.1 CTCF REST RAD21 ZBTB10 USF1 TARDBP ZBTB11 NR2F1 ZNF335 SMC3 H19 MRPL23-AS1 TNNI2 SYT8 FAM99B KRTAP5-6 LINC02708 piR-56684 MRPL23 IGF2
GH11J002001 Enhancer 0.5 ENCODE 600.7 -1.3 -1316 0.2 CTCF RAD21 ZBTB10 SMC3 ZNF335 ZNF654 CREM H19 TNNI2 SYT8 FAM99B KRTAP5-6 LINC02708 piR-56684 MRPL23 IGF2
GH11J002197 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.3 -195.9 -195925 1.1 ARHGAP35 CTCF REST RAD21 ZNF311 YBX3 ZNF184 NKRF ZNF444 BCLAF1 TNNT3 H19 C11orf21 piR-50444-054 HSALNG0082199 TH ASCL2
GH11J001849 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.3 +148.9 148906 6.3 SP1 POLR2A BACH1 LARP7 ZNF143 RELA TCF12 IKZF2 RCOR1 TRIM22 LSP1 KCNQ1OT1 TNNI2 TNNT3 H19 C11orf21 TSPAN32 IGF2 LOC107984299
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H19 on the GeneHancer Hub at the UCSC Golden Path

Top Transcription factor binding sites by QIAGEN in the H19 gene promoter:
  • MyoD
  • NF-1
  • NF-1/L
  • p53

Genomic Locations for H19 Gene

Genomic Locations for H19 Gene
chr11:1,995,130-2,001,710
(GRCh38/hg38)
Size:
6,581 bases
Orientation:
Minus strand
chr11:2,016,406-2,022,700
(GRCh37/hg19)
Size:
6,295 bases
Orientation:
Minus strand

Genomic View for H19 Gene

Genes around H19 on UCSC Golden Path with GeneCards custom track
H19 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Cytogenetic band:
H19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H19 Gene

Proteins for H19 Gene

No data available for DME Specific Peptides for H19 Gene

Domains & Families for H19 Gene

genes like me logo Genes that share domains with H19: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for H19 Gene

Function for H19 Gene

Molecular function for H19 Gene

GENATLAS Biochemistry:
DNA segment,single copy,probe H19S1,highly expressed in endodermal and mesodermal embryonic tissues,in adult brain,only in the pons and globus pallidus,paternally imprinted,(?same as ASMG),telomeric imprinting domain at 11p15,containing ASCL2,IGF2 and H19,silenced and hypermethylated in most Wilms tumor and in bladder carcinomas,but hypomethylated in benign ovarian teratoma

Phenotypes From GWAS Catalog for H19 Gene

Phenotypes for H19 Gene

genes like me logo Genes that share phenotypes with H19: view

Human Phenotype Ontology for H19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for H19 Gene

Localization for H19 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for H19 gene
Compartment Confidence
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for H19 Gene

Pathways & Interactions for H19 Gene

PathCards logo

SuperPathways for H19 Gene

No Data Available

Gene Ontology (GO) - Biological Process for H19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035195 gene silencing by miRNA IEA --
genes like me logo Genes that share ontologies with H19: view

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for H19 Gene

Drugs & Compounds for H19 Gene

(6) Drugs for H19 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Platinum compounds Pharma 0

(13) Additional Compounds for H19 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with H19: view

Transcripts for H19 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for H19 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS00008B4EC8_9606 lncRNA 798 4

Ensembl: ENST00000442037 (view in UCSC) , ENST00000673351 (view in UCSC) ,

LncBook: HSALNT0288947,

LNCipedia: H19:17,

NONCODE: NONHSAT017463.2,

URS00008BCDA8_9606 lncRNA 2348 3

Ensembl: ENST00000414790 (view in UCSC) , ENST00000672067 (view in UCSC) ,

LNCipedia: H19:3,

NONCODE: NONHSAT017465.2,

URS00009BD4FD_9606 lncRNA 2281 3

Ensembl: ENST00000412788 (view in UCSC) , ENST00000673194 (view in UCSC) ,

LNCipedia: H19:9,

NONCODE: NONHSAT017462.2,

URS00008B4E34_9606 lncRNA 1929 3

Ensembl: ENST00000439725 (view in UCSC) , ENST00000673432 (view in UCSC) ,

LNCipedia: H19:12,

NONCODE: NONHSAT017464.2,

URS0000812128_9606 lncRNA 2348 2

HGNC: 4713,

RefSeq: NR_002196,

H19 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for H19 Gene

28 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for H19 Gene

No ASD Table

Relevant External Links for H19 Gene

GeneLoc Exon Structure for
H19

Expression for H19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for H19 Gene

mRNA differential expression in normal tissues according to GTEx for H19 Gene

This gene is overexpressed in Muscle - Skeletal (x11.1) and Adrenal Gland (x4.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H19

SOURCE GeneReport for Unigene cluster for H19 Gene:

Hs.533566

Phenotype-based relationships between genes and organs from Gene ORGANizer for H19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with H19: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for H19 Gene

Orthologs for H19 Gene

Evolution for H19 Gene

ENSEMBL:
Gene Tree for H19 (if available)
TreeFam:
Gene Tree for H19 (if available)

No data available for Orthologs for H19 Gene

Paralogs for H19 Gene

No data available for Paralogs for H19 Gene

Variants for H19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for H19 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs431825164 Not Provided: Beckwith-Wiedemann syndrome 2,001,083(-) G/A GENIC_UPSTREAM_TRANSCRIPT_VARIANT
rs431825166 Not Provided: Beckwith-Wiedemann syndrome 2,000,708(-) T/A GENIC_UPSTREAM_TRANSCRIPT_VARIANT
rs431825167 Not Provided: Beckwith-Wiedemann syndrome 2,000,108(-) C/A
rs431825168 Not Provided: Beckwith-Wiedemann syndrome 2,001,029(-) C/A GENIC_UPSTREAM_TRANSCRIPT_VARIANT
rs431825169 Not Provided: Beckwith-Wiedemann syndrome 2,000,605(-) A/T GENIC_UPSTREAM_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for H19 Gene

Structural Variations from Database of Genomic Variants (DGV) for H19 Gene

Variant ID Type Subtype PubMed ID
dgv1015n100 CNV gain 25217958
dgv1016n100 CNV gain 25217958
esv29980 CNV loss 17803354
nsv1047474 CNV gain 25217958
nsv467645 CNV gain 19166990
nsv469926 CNV loss 18288195
nsv522320 CNV loss 19592680
nsv553047 CNV gain 21841781
nsv553064 CNV loss 21841781
nsv951283 CNV deletion 24416366

Additional Variant Information for H19 Gene

Human Gene Mutation Database (HGMD)
H19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
H19

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for H19 Gene

Disorders for H19 Gene

MalaCards: The human disease database

(102) MalaCards diseases for H19 Gene - From: LncRNADisease, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemihyperplasia, isolated
  • ih
beckwith-wiedemann syndrome
  • bws
wilms tumor 2
  • wt2
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
choriocarcinoma
  • chorioepithelioma
- elite association - COSMIC cancer census association via MalaCards
Search H19 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for H19

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with H19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for H19 Gene

Publications for H19 Gene

  1. The H19 gene imprinting in normal pregnancy and pre-eclampsia. (PMID: 19342096) Yu L … Li L (Placenta 2009) 3 23 41
  2. Polymorphisms in the H19 gene and the risk of bladder cancer. (PMID: 18262338) Verhaegh GW … Kiemeney LA (European urology 2008) 3 23 41
  3. Genetic predisposition to idiopathic recurrent spontaneous abortion: contribution of genetic variations in IGF-2 and H19 imprinted genes. (PMID: 18573128) Ostojić S … Peterlin B (American journal of reproductive immunology (New York, N.Y. : 1989) 2008) 3 23 41
  4. The product of the H19 gene may function as an RNA. (PMID: 1688465) Brannan CI … Tilghman SM (Molecular and cellular biology 1990) 2 3 23
  5. Expression of the imprinted IGF2 and H19 genes in the endometrium of cases with unexplained infertility. (PMID: 20042264) Korucuoglu U … Menevse S (European journal of obstetrics, gynecology, and reproductive biology 2010) 3 23

Products for H19 Gene

Sources for H19 Gene