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Aliases for EGID-105180392 Gene

Aliases for EGID-105180392 Gene

  • Beta-Globin 3' Hypersensitive Site 1 3
  • Beta-Globin 3 Hypersensitive Site 1 3
  • 3HS-1 Regulatory Sequence 3
  • Hypersensitive Site VI 3
  • HBB-3HS1 3
  • 3HS1 3
  • HSVI 3

External Ids for EGID-105180392 Gene

Summaries for EGID-105180392 Gene

Entrez Gene Summary for EGID-105180392 Gene

  • This element represents a DNase I hypersensitive site that is found approximately 20 kb downstream of the beta-globin gene cluster in erythroid cells. It has been shown to function as a scaffold attachment region, and it also has enhancer-blocking activity that is mediated by binding of the CTCF transcription factor. Chromosome conformation capture assays indicate that it is an integral part of the beta-globin active chromatin hub in erythroid cells, where it undergoes looping interactions with the beta-globin locus control region (LCR) and active beta-globin gene promoters. A mutation in this hypersensitive site may be associated with beta-thalassemia intermedia. This hypersensitive site is located in a region that is deleted in some beta-thalassemias, including several hereditary persistence of fetal hemoglobin (HPFH) deletions. [provided by RefSeq, Jul 2015]

GeneCards Summary for EGID-105180392 Gene

EGID-105180392 (Beta-Globin 3' Hypersensitive Site 1) is an Uncategorized gene. Diseases associated with EGID-105180392 include Thalassemia.

Additional gene information for EGID-105180392 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 EGID-105180392 Gene

Genomics for EGID-105180392 Gene

Genomic Location for EGID-105180392 Gene

Chromosome:
11
Orientation:
Unknown strand

Genomic View for EGID-105180392 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

No data available for Regulatory Elements and RefSeq DNA sequence for EGID-105180392 Gene

Proteins for EGID-105180392 Gene

Post-translational modifications for EGID-105180392 Gene

No Post-translational modifications

No data available for DME Specific Peptides for EGID-105180392 Gene

Domains & Families for EGID-105180392 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 EGID-105180392 Gene

Function for EGID-105180392 Gene

Animal Model Products

Clone 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 EGID-105180392 Gene

Localization for EGID-105180392 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 EGID-105180392 Gene

Pathways & Interactions for EGID-105180392 Gene

SuperPathways for EGID-105180392 Gene

No Data Available

Interacting Proteins for EGID-105180392 Gene

Gene Ontology (GO) - Biological Process for EGID-105180392 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EGID-105180392 Gene

Drugs & Compounds for EGID-105180392 Gene

No Compound Related Data Available

Transcripts for EGID-105180392 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for EGID-105180392 Gene

No ASD Table

No data available for mRNA/cDNA for EGID-105180392 Gene

Expression for EGID-105180392 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 EGID-105180392 Gene

Orthologs for EGID-105180392 Gene

No data available for Orthologs and Evolution for EGID-105180392 Gene

Paralogs for EGID-105180392 Gene

No data available for Paralogs for EGID-105180392 Gene

Variants for EGID-105180392 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 Relevant External Links for EGID-105180392 Gene

Disorders for EGID-105180392 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EGID-105180392 Gene - From: GeneCards

Disorder Aliases PubMed IDs
thalassemia
  • sickle-cell thalassemia with crisis
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with EGID-105180392: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for EGID-105180392 Gene

Publications for EGID-105180392 Gene

  1. Epigenetic interplay at the β-globin locus. (PMID: 28161275) Lee WS … Vadolas J (Biochimica et biophysica acta 2017) 3 60
  2. Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression. (PMID: 27492747) Reading NS … Prchal JT (Human mutation 2016) 3 60
  3. The hematopoietic regulator TAL1 is required for chromatin looping between the β-globin LCR and human γ-globin genes to activate transcription. (PMID: 24470145) Yun WJ … Kim A (Nucleic acids research 2014) 3 60
  4. β-Globin cis-elements determine differential nuclear targeting through epigenetic modifications. (PMID: 24297746) Bian Q … Belmont AS (The Journal of cell biology 2013) 3 60
  5. CTCF: the protein, the binding partners, the binding sites and their chromatin loops. (PMID: 23650640) Holwerda SJ … de Laat W (Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2013) 3 60

Products for EGID-105180392 Gene

Sources for EGID-105180392 Gene

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