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Aliases for EGID-109951028 Gene

Aliases for EGID-109951028 Gene

  • A-Gamma-Globin 3' Regulatory Region 3
  • A-GAMMA3E 3 3
  • HBG1 3 Enh And F Elements 3
  • Agamma 3 Enhancer 3
  • A-Gamma-E 3

External Ids for EGID-109951028 Gene

Summaries for EGID-109951028 Gene

Entrez Gene Summary for EGID-109951028 Gene

  • This genomic region represents regulatory elements that exist downstream of the hemoglobin subunit gamma 1 (HBG1) gene, which is also referred to as the A-gamma gene within the beta-globin gene cluster on chromosome 11. Two elements have been defined in this region, an enhancer termed Enh and a silencer termed F. The enhancer was shown to be active by transfection assays in both erythroleukemia and non-erythroid cell lines, and it may include both positively- and negatively-acting components. Both the Enh and F elements can negatively regulate transcription at the beta-globin locus in an embryonic-specific manner in some transgenic contexts, though they are not required for developmental switching from fetal gamma-globin to adult beta-globin gene expression in transgenic mice. These elements form an erythroid DNase I hypersensitive region with multiple sub-sites. This region can bind to multiple proteins, including the matrix-associated factor SATB1, the HOXB2 transcription factor and the erythroid GATA-1 binding protein. Mutations in this region may result in increased gamma-globin gene expression. These elements are deleted in some beta-thalassemia deletions that also remove the downstream adult beta-globin genes. [provided by RefSeq, Mar 2017]

GeneCards Summary for EGID-109951028 Gene

EGID-109951028 (A-Gamma-Globin 3' Regulatory Region) is an Uncategorized gene.

Additional gene information for EGID-109951028 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-109951028 Gene

Genomics for EGID-109951028 Gene

Genomic Locations for EGID-109951028 Gene

Genomic Locations for EGID-109951028 Gene
chr11:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for EGID-109951028 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for EGID-109951028 Gene

No data available for GeneHancer (GH) Regulatory Elements for EGID-109951028 Gene

Proteins for EGID-109951028 Gene

Post-translational modifications for EGID-109951028 Gene

No Post-translational modifications

No data available for DME Specific Peptides for EGID-109951028 Gene

Domains & Families for EGID-109951028 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-109951028 Gene

Function for EGID-109951028 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-109951028 Gene

Localization for EGID-109951028 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-109951028 Gene

Pathways & Interactions for EGID-109951028 Gene

SuperPathways for EGID-109951028 Gene

No Data Available

Interacting Proteins for EGID-109951028 Gene

Gene Ontology (GO) - Biological Process for EGID-109951028 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EGID-109951028 Gene

Drugs & Compounds for EGID-109951028 Gene

No Compound Related Data Available

Transcripts for EGID-109951028 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EGID-109951028 Gene

No ASD Table

No data available for mRNA/cDNA for EGID-109951028 Gene

Expression for EGID-109951028 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-109951028 Gene

Orthologs for EGID-109951028 Gene

No data available for Orthologs and Evolution for EGID-109951028 Gene

Paralogs for EGID-109951028 Gene

No data available for Paralogs for EGID-109951028 Gene

Variants for EGID-109951028 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 EGID-109951028 Gene

Disorders for EGID-109951028 Gene

No disorders were found for EGID-109951028 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for EGID-109951028 Gene

Publications for EGID-109951028 Gene

  1. Persistent fetal gamma-globin expression in adult transgenic mice following deletion of two silencer elements located 3' to the human Agamma-globin gene. (PMID: 19690621) Gazouli M … Anagnou NP (Molecular medicine (Cambridge, Mass.) 2009) 3 58
  2. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. (PMID: 17221864) Giardine B … Patrinos GP (Human mutation 2007) 3 58
  3. An embryonic-specific repressor element located 3' to the Agamma-globin gene influences transcription of the human beta-globin locus in transgenic mice. (PMID: 15102485) Katsantoni EZ … Strouboulis J (Experimental hematology 2004) 3 58
  4. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. (PMID: 14681476) Patrinos GP … Hardison RC (Nucleic acids research 2004) 3 58
  5. Sequences in the (A)gamma-delta intergenic region are not required for stage-specific regulation of the human beta-globin gene locus. (PMID: 12629213) Gaensler KM … Flebbe-Rehwaldt L (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 58

Products for EGID-109951028 Gene

Sources for EGID-109951028 Gene

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