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Aliases for LOC110011217 Gene

Aliases for LOC110011217 Gene

  • Hereditary Persistence Of Fetal Hemoglobin-1 And -2 3' Breakpoint Enhancers 3
  • HPFH-1 Enhancer 3
  • HPFH-2 Enhancer 3
  • HPFH2 Element 3

External Ids for LOC110011217 Gene

Summaries for LOC110011217 Gene

Entrez Gene Summary for LOC110011217 Gene

  • This locus represents an enhancer region that is present downstream of the beta-globin gene cluster on chromosome 11 (with respect to the direction of beta-globin gene transcription). This region is immediately downstream of the 3' breakpoints of hereditary persistence of fetal hemoglobin-1 (HPFH-1) and HPFH-2 deletions, where both deletions remove the adult beta-globin genes (HBD and HBB) and a 3' DNase I hypersensitive site 1 (3'HS1). In these deletions, it is thought that the juxtaposition of the 3' enhancers next to the fetal gamma-globin genes (HBG1 and HBG2) are responsible for the persistent expression of the fetal globin genes in adult blood. Two enhancer elements and multiple DNase I hypersensitive sites have been identified in this genomic region. Experiments in transfected cells and transgenic mice show that these enhancers can activate fetal gamma-globin gene expression in constructs that juxtapose them with the fetal genes. [provided by RefSeq, Apr 2017]

GeneCards Summary for LOC110011217 Gene

LOC110011217 (Hereditary Persistence Of Fetal Hemoglobin-1 And -2 3' Breakpoint Enhancers) is a Biological Region gene.

Additional gene information for LOC110011217 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 LOC110011217 Gene

Genomics for LOC110011217 Gene

Genomic Locations for LOC110011217 Gene

Genomic Locations for LOC110011217 Gene
chr11:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110011217 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110011217 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110011217 Gene

Proteins for LOC110011217 Gene

Post-translational modifications for LOC110011217 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110011217 Gene

Domains & Families for LOC110011217 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 LOC110011217 Gene

Function for LOC110011217 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 LOC110011217 Gene

Localization for LOC110011217 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 LOC110011217 Gene

Pathways & Interactions for LOC110011217 Gene

PathCards logo

SuperPathways for LOC110011217 Gene

No Data Available

Interacting Proteins for LOC110011217 Gene

Gene Ontology (GO) - Biological Process for LOC110011217 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC110011217 Gene

Drugs & Compounds for LOC110011217 Gene

No Compound Related Data Available

Transcripts for LOC110011217 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110011217 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110011217 Gene

Expression for LOC110011217 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 LOC110011217 Gene

Orthologs for LOC110011217 Gene

No data available for Orthologs and Evolution for LOC110011217 Gene

Paralogs for LOC110011217 Gene

No data available for Paralogs for LOC110011217 Gene

Variants for LOC110011217 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 LOC110011217 Gene

Disorders for LOC110011217 Gene

No disorders were found for LOC110011217 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110011217 Gene

Publications for LOC110011217 Gene

  1. Featured Article: Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian δβ-thalassemia, by BCL11A and SOX6-targeting microRNAs. (PMID: 27591578) Fornari TA … Costa FF (Experimental biology and medicine (Maywood, N.J.) 2017) 3 58
  2. The new self-inactivating lentiviral vector for thalassemia gene therapy combining two HPFH activating elements corrects human thalassemic hematopoietic stem cells. (PMID: 21875313) Papanikolaou E … Anagnou NP (Human gene therapy 2012) 3 58
  3. Homozygous deletion of six olfactory receptor genes in a subset of individuals with Beta-thalassemia. (PMID: 21390308) Van Ziffle J … Chehab FF (PloS one 2011) 3 58
  4. Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster. (PMID: 16952470) de Andrade TG … Costa FF (Blood cells, molecules & diseases 2006) 3 58
  5. Use of the hereditary persistence of fetal hemoglobin 2 enhancer to increase the expression of oncoretrovirus vectors for human gamma-globin. (PMID: 15944728) Fragkos M … Emery DW (Gene therapy 2005) 3 58

No data available for External Links for LOC110011217 Gene

Products for LOC110011217 Gene

Sources for LOC110011217 Gene

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