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Aliases for LOC105274310 Gene

Aliases for LOC105274310 Gene

  • H19/IGF2 Enhancer Region 3
  • H19 3' Enhancer Region 3

External Ids for LOC105274310 Gene

Summaries for LOC105274310 Gene

Entrez Gene Summary for LOC105274310 Gene

  • This locus represents an enhancer region that can regulate expression of both the non-coding H19 gene and the gene encoding insulin-like growth factor 2 (IGF2). These genes, which are located in a head-to-tail arrangement in opposite orientations, have imprinted expression patterns, where the H19 gene is expressed only from the maternal allele, and the IGF2 gene is expressed only from the paternal allele. This enhancer region is located downstream of the H19 gene. On the maternal allele, the ability of this enhancer region to regulate the more distal IGF2 gene is blocked by an imprinting control region (ICR), which is located between the H19 and IGF2 genes. On the paternal allele, the enhancer-blocking function of the ICR is disabled via DNA methylation, thus allowing this enhancer region to activate the IGF2 gene. Mutations in this enhancer region are associated with Silver-Russell syndrome and growth retardation. [provided by RefSeq, Feb 2015]

GeneCards Summary for LOC105274310 Gene

LOC105274310 (H19/IGF2 Enhancer Region) is a Biological Region gene. Diseases associated with LOC105274310 include Silver-Russell Syndrome.

Additional gene information for LOC105274310 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 LOC105274310 Gene

Genomics for LOC105274310 Gene

Genomic Locations for LOC105274310 Gene

Genomic Locations for LOC105274310 Gene
chr11:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC105274310 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC105274310 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC105274310 Gene

Proteins for LOC105274310 Gene

Post-translational modifications for LOC105274310 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC105274310 Gene

Domains & Families for LOC105274310 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 LOC105274310 Gene

Function for LOC105274310 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC105274310 Gene

Localization for LOC105274310 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 LOC105274310 Gene

Pathways & Interactions for LOC105274310 Gene

PathCards logo

SuperPathways for LOC105274310 Gene

No Data Available

Interacting Proteins for LOC105274310 Gene

Gene Ontology (GO) - Biological Process for LOC105274310 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC105274310 Gene

Drugs & Compounds for LOC105274310 Gene

No Compound Related Data Available

Transcripts for LOC105274310 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC105274310 Gene

No ASD Table

No data available for mRNA/cDNA for LOC105274310 Gene

Expression for LOC105274310 Gene

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC105274310 Gene

Orthologs for LOC105274310 Gene

No data available for Orthologs and Evolution for LOC105274310 Gene

Paralogs for LOC105274310 Gene

No data available for Paralogs for LOC105274310 Gene

Variants for LOC105274310 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 LOC105274310 Gene

Disorders for LOC105274310 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC105274310 Gene - From: GeneCards

Disorder Aliases PubMed IDs
silver-russell syndrome
  • srs
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC105274310: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC105274310 Gene

Publications for LOC105274310 Gene

  1. A novel large deletion of the ICR1 region including H19 and putative enhancer elements. (PMID: 25943194) Fryssira H … Buiting K (BMC medical genetics 2015) 3 58
  2. Induced DNA demethylation can reshape chromatin topology at the IGF2-H19 locus. (PMID: 23585276) Ito Y … Murrell A (Nucleic acids research 2013) 3 58
  3. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation. (PMID: 21278389) Grønskov K … Mackay DJ (Journal of medical genetics 2011) 3 58
  4. Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. (PMID: 21282187) Nativio R … Murrell A (Human molecular genetics 2011) 3 58
  5. Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus. (PMID: 19956766) Nativio R … Murrell A (PLoS genetics 2009) 3 58

No data available for External Links for LOC105274310 Gene

Products for LOC105274310 Gene

Sources for LOC105274310 Gene

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