This genomic location represents the 3' regulatory region of the hemoglobin subunit beta (HBB) gene, which is also referred to as the adult beta-globin gene within the beta-globin gene cluster on chromosome 11. This region includes two enhancer elements, one within the 3' coding region of the gene and the other located approximately 0.5 kb downstream of the poly(A) site. Both o... See more...

Aliases for LOC110006319 Gene

Aliases for LOC110006319 Gene

  • Beta-Globin Gene 3' Regulatory Region 3
  • Adult Beta-Globin 3' Enhancer 3
  • HBB 3' Enhancer 3

External Ids for LOC110006319 Gene

Summaries for LOC110006319 Gene

Entrez Gene Summary for LOC110006319 Gene

  • This genomic location represents the 3' regulatory region of the hemoglobin subunit beta (HBB) gene, which is also referred to as the adult beta-globin gene within the beta-globin gene cluster on chromosome 11. This region includes two enhancer elements, one within the 3' coding region of the gene and the other located approximately 0.5 kb downstream of the poly(A) site. Both of those elements may be required for correct developmental expression of the beta-globin genes, in addition to the locus control region (LCR) at the 5' end of the beta-globin gene cluster. Both elements coincide with DNase I hypersensitive sites (HSs) in erythroid cells. A scaffold or matrix attachment region overlaps the element located within the gene, while the 3' enhancer region can bind erythroid transcription factors and may also be required for regulation of replication initiation at the replication origin (IR) in the vicinity of the HBB gene. In addition, a region overlapping the enhancer within intron 2 of the HBB gene produces a polypyrimidine RNA that forms a DNA-RNA triple helix with 5'HS2 of the LCR, where triplex formation attenuates binding of transcription factors and RNA polymerase II to the LCR, resulting in reduced expression of the beta-globin genes. This genomic region is deleted in some beta-hemoglobinopathies with adult beta-globin expression defects, including some hereditary persistence of fetal hemoglobin (HPFH) deletions. [provided by RefSeq, Dec 2019]

GeneCards Summary for LOC110006319 Gene

LOC110006319 (Beta-Globin Gene 3' Regulatory Region) is a Biological Region gene. Diseases associated with LOC110006319 include Beta-Thalassemia, Dominant Inclusion Body Type and Methemoglobinemia, Beta Type.

Additional gene information for LOC110006319 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC110006319 Gene

Genomics for LOC110006319 Gene

Genomic Locations for LOC110006319 Gene

Genomic Locations for LOC110006319 Gene
chr11:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110006319 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110006319 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110006319 Gene

Proteins for LOC110006319 Gene

Post-translational modifications for LOC110006319 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110006319 Gene

Domains & Families for LOC110006319 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110006319 Gene

Function for LOC110006319 Gene

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 LOC110006319 Gene

Localization for LOC110006319 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 LOC110006319 Gene

Pathways & Interactions for LOC110006319 Gene

PathCards logo

SuperPathways for LOC110006319 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110006319 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110006319 Gene

Drugs & Compounds for LOC110006319 Gene

No Compound Related Data Available

Transcripts for LOC110006319 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110006319 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110006319 Gene

Expression for LOC110006319 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 LOC110006319 Gene

Orthologs for LOC110006319 Gene

No data available for Orthologs and Evolution for LOC110006319 Gene

Paralogs for LOC110006319 Gene

No data available for Paralogs for LOC110006319 Gene

Variants for LOC110006319 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC110006319 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
15453 Pathogenic: Beta-plus-thalassemia 5,225,734( ) A/C INTRON_VARIANT
15512 Pathogenic: beta^0^ Thalassemia 5,225,727( ) C/G SPLICE_ACCEPTOR_VARIANT
15616 Pathogenic: Beta-plus-thalassemia 5,225,488( ) A/T THREE_PRIME_UTR_VARIANT
660167 Pathogenic: not provided 5,225,465( ) TGCAATGAAAATAAAT SPLICE_ACCEPTOR_VARIANT
695343 Benign: not provided 5,226,099( ) G/T INTRON_VARIANT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC110006319 Gene

Disorders for LOC110006319 Gene

MalaCards: The human disease database

(8) MalaCards diseases for LOC110006319 Gene - From: GeneCards

Disorder Aliases PubMed IDs
beta-thalassemia, dominant inclusion body type
  • dyserythropoietic anemia, congenital, irish or weatherall type
methemoglobinemia, beta type
  • methmoglobinemia, beta type
thalassemia
  • sickle-cell thalassemia with crisis
methemoglobinemia, beta-globin type
  • congenital methemoglobinemia
fetal hemoglobin quantitative trait locus 1
  • hbfqtl1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC110006319: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110006319 Gene

Publications for LOC110006319 Gene

  1. DNA·RNA triple helix formation can function as a cis-acting regulatory mechanism at the human β-globin locus. (PMID: 30867287) Zhou Z … Felsenfeld G (Proceedings of the National Academy of Sciences of the United States of America 2019) 3 54
  2. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. (PMID: 17221864) Giardine B … Patrinos GP (Human mutation 2007) 3 54
  3. Initiation of DNA replication at the human beta-globin 3' enhancer. (PMID: 16085752) Buzina A … Ellis J (Nucleic acids research 2005) 3 54
  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 54
  5. Locus control region activity by 5'HS3 requires a functional interaction with beta-globin gene regulatory elements: expression of novel beta/gamma-globin hybrid transgenes. (PMID: 10807795) Rubin JE … Ellis J (Blood 2000) 3 54

No data available for Mastermind for LOC110006319 Gene

Products for LOC110006319 Gene

Sources for LOC110006319 Gene