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Aliases for H19-ICR Gene

Aliases for H19-ICR Gene

  • H19/IGF2 Imprinting Control Region 3
  • ICR1 Differentially Methylated Region 3
  • Imprinting Center 1 3
  • ICR1-DMR 3
  • H19-DMD 3
  • ICR1 3
  • IC1 3

External Ids for H19-ICR Gene

Summaries for H19-ICR Gene

Entrez Gene Summary for H19-ICR Gene

  • This region represents a methylation-sensitive enhancer-blocking element that controls imprinted expression of the non-coding H19 gene and the gene encoding insulin-like growth factor 2 (IGF2). These neighboring genes exist in a head-to-tail arrangement in opposite orientations and share an enhancer, but the H19 gene is only expressed from the maternal allele, while the IGF2 gene is only expressed from the paternal allele. This element, which is a differentially methylated region (DMR), is located just upstream of the H19 gene. It is unmethylated on the maternal allele, which permits binding of the CTCF protein, and it can thus function as an enhancer-blocking element to prevent activation of IGF2 by the enhancer, thereby allowing H19 activation. However, it is methylated on the paternal allele and CTCF cannot bind, thus allowing the enhancer to activate the IGF2 gene, and the H19 gene is silenced. This DMR includes multiple direct repeat units and seven CTCF-binding sites. Mutations in this element are a cause of Wilms tumor, and also Beckwith-Wiedemann syndrome through either a gain or loss of methylation. This element has also been implicated in dysregulated H19-IGF2 imprinting found in osteosarcoma and in Silver-Russell syndrome. [provided by RefSeq, Feb 2015]

GeneCards Summary for H19-ICR Gene

H19-ICR (H19/IGF2 Imprinting Control Region) is a Biological Region gene. Diseases associated with H19-ICR include Beckwith-Wiedemann Syndrome and Uniparental Disomy Of Chromosome 11.

Additional gene information for H19-ICR Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for H19-ICR Gene

Genomics for H19-ICR Gene

Genomic Locations for H19-ICR Gene

Genomic Locations for H19-ICR Gene
chr11:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for H19-ICR Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for H19-ICR Gene

No data available for GeneHancer (GH) Regulatory Elements for H19-ICR Gene

Proteins for H19-ICR Gene

Post-translational modifications for H19-ICR Gene

No Post-translational modifications

No data available for DME Specific Peptides for H19-ICR Gene

Domains & Families for H19-ICR Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for H19-ICR Gene

Function for H19-ICR Gene

Human Phenotype Ontology for H19-ICR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization for H19-ICR Gene

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

Pathways & Interactions for H19-ICR Gene

PathCards logo

SuperPathways for H19-ICR Gene

No Data Available

Interacting Proteins for H19-ICR Gene

Gene Ontology (GO) - Biological Process for H19-ICR Gene

None

No data available for Pathways by source and SIGNOR curated interactions for H19-ICR Gene

Drugs & Compounds for H19-ICR Gene

No Compound Related Data Available

Transcripts for H19-ICR Gene

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

No ASD Table

No data available for mRNA/cDNA for H19-ICR Gene

Expression for H19-ICR Gene

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
  • tongue
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
  • 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:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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-ICR Gene

Orthologs for H19-ICR Gene

No data available for Orthologs and Evolution for H19-ICR Gene

Paralogs for H19-ICR Gene

No data available for Paralogs for H19-ICR Gene

Variants for H19-ICR Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for H19-ICR Gene

Disorders for H19-ICR Gene

MalaCards: The human disease database

(3) MalaCards diseases for H19-ICR Gene - From: GTR and GeneCards

Disorder Aliases PubMed IDs
beckwith-wiedemann syndrome
  • bws
uniparental disomy of chromosome 11
  • paternal uniparental disomy for chromosome 11
silver-russell syndrome
  • srs
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with H19-ICR: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for H19-ICR Gene

Publications for H19-ICR Gene

  1. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. (PMID: 25898929) Mussa A … Ferrero GB (European journal of human genetics : EJHG 2016) 3 58
  2. Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation. (PMID: 27152123) Bohne F … Prawitt D (Clinical epigenetics 2016) 3 58
  3. Long non-coding RNA 91H contributes to the occurrence and progression of esophageal squamous cell carcinoma by inhibiting IGF2 expression. (PMID: 24706416) Gao T … Wang S (Molecular carcinogenesis 2015) 3 58
  4. Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome. (PMID: 25395389) Azzi S … Netchine I (Journal of medical genetics 2015) 3 58
  5. Novel DNA methylation profiles associated with key gene regulation and transcription pathways in blood and placenta of growth-restricted neonates. (PMID: 25496377) Hillman SL … Williams DJ (Epigenetics 2015) 3 58

No data available for External Links for H19-ICR Gene

Products for H19-ICR Gene

Sources for H19-ICR Gene

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