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Aliases for HBA-LCR Gene

Aliases for HBA-LCR Gene

  • Alpha-Globin Locus Control Region 3
  • Alpha-Globin Dominant Control Region 3
  • Alpha-Locus Controlling Region 3
  • Alpha-Globin DCR 3
  • Alpha-LCR 3

External Ids for HBA-LCR Gene

Summaries for HBA-LCR Gene

Entrez Gene Summary for HBA-LCR Gene

  • This genomic region regulates developmental stage- and erythroid lineage-specific expression of the HBZ (hemoglobin, zeta), HBA2 (hemoglobin, alpha 2), HBA1 (hemoglobin, alpha 1) and HBQ1 (hemoglobin, theta 1) genes within the alpha-globin gene cluster. This region has properties of a locus control region (LCR) in that it can confer high-level and chromosomal position-independent expression on members of the alpha-globin gene cluster in a transgene assay, but unlike other LCRs, such as that regulating the beta-globin gene cluster, it lacks the ability to confer copy number-dependent expression on the linked genes. This region overlaps the NPRL3 (NPR3-like, GATOR1 complex subunit) gene, which is transcribed in the opposite orientation compared to the downstream alpha-globin genes. This regulatory region is characterized by multiple erythroid-specific DNase I hypersensitive sites, including HS-48, HS-40, HS-33, HS-10 and HS-8, where the HS-40 site represents an enhancer and is the major cis-acting regulatory element. HS-40 binds transcription factors and mediates looping with the promoters of the alpha-globin genes during erythroid development. The HS-40 element has also been used to enhance erythroid expression of beta-globin family members in gene therapy vectors for beta-chain hemoglobinopathies. Mutations in this regulatory region result in alpha thalassemias and alpha hemoglobinopathies. [provided by RefSeq, Aug 2015]

GeneCards Summary for HBA-LCR Gene

HBA-LCR (Alpha-Globin Locus Control Region) is a Biological Region gene.

Additional gene information for HBA-LCR 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 HBA-LCR Gene

Genomics for HBA-LCR Gene

Genomic Locations for HBA-LCR Gene

Genomic Locations for HBA-LCR Gene
chr16:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for HBA-LCR Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for HBA-LCR Gene

No data available for GeneHancer (GH) Regulatory Elements for HBA-LCR Gene

Proteins for HBA-LCR Gene

Post-translational modifications for HBA-LCR Gene

No Post-translational modifications

No data available for DME Specific Peptides for HBA-LCR Gene

Domains & Families for HBA-LCR 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 HBA-LCR Gene

Function for HBA-LCR 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 HBA-LCR Gene

Localization for HBA-LCR 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 HBA-LCR Gene

Pathways & Interactions for HBA-LCR Gene

PathCards logo

SuperPathways for HBA-LCR Gene

No Data Available

Interacting Proteins for HBA-LCR Gene

Gene Ontology (GO) - Biological Process for HBA-LCR Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HBA-LCR Gene

Drugs & Compounds for HBA-LCR Gene

No Compound Related Data Available

Transcripts for HBA-LCR Gene

Alternative Splicing Database (ASD) splice patterns (SP) for HBA-LCR Gene

No ASD Table

No data available for mRNA/cDNA for HBA-LCR Gene

Expression for HBA-LCR 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 HBA-LCR Gene

Orthologs for HBA-LCR Gene

No data available for Orthologs and Evolution for HBA-LCR Gene

Paralogs for HBA-LCR Gene

No data available for Paralogs for HBA-LCR Gene

Variants for HBA-LCR 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 HBA-LCR Gene

Disorders for HBA-LCR Gene

No disorders were found for HBA-LCR Gene.

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

Publications for HBA-LCR Gene

  1. KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome. (PMID: 25724378) Magor GW … Perkins AC (Blood 2015) 3 58
  2. α-Globin as a molecular target in the treatment of β-thalassemia. (PMID: 25869286) Mettananda S … Higgs DR (Blood 2015) 3 58
  3. Interferon-γ suppresses activin A/NF-E2 induction of erythroid gene expression through the NF-κB/c-Jun pathway. (PMID: 24336657) Lee WH … Huang HM (American journal of physiology. Cell physiology 2014) 3 58
  4. Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment. (PMID: 24413732) Hughes JR … Higgs DR (Nature genetics 2014) 3 58
  5. Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR. (PMID: 24456650) Grimholt RM … Piehler AP (BMC hematology 2014) 3 58

No data available for External Links for HBA-LCR Gene

Products for HBA-LCR Gene

Sources for HBA-LCR Gene

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