This locus represents an enhancer that is present downstream of the beta-globin gene cluster on chromosome 11 (with respect to the direction of beta-globin gene transcription). It is located 0.5 kb downstream of the 3' breakpoint of a deletion found in patients with hereditary persistence of fetal hemoglobin-6 (HPFH-6), where the deletion removes one of the fetal globin genes (... See more...

Aliases for LOC110013311 Gene

Aliases for LOC110013311 Gene

  • Hereditary Persistence Of Fetal Hemoglobin-6 3' Breakpoint Enhancer 3
  • HPFH-6 Enhancer 3

External Ids for LOC110013311 Gene

Summaries for LOC110013311 Gene

Entrez Gene Summary for LOC110013311 Gene

  • This locus represents an enhancer that is present downstream of the beta-globin gene cluster on chromosome 11 (with respect to the direction of beta-globin gene transcription). It is located 0.5 kb downstream of the 3' breakpoint of a deletion found in patients with hereditary persistence of fetal hemoglobin-6 (HPFH-6), where the deletion removes one of the fetal globin genes (HBG1), the adult beta-globin genes (HBD and HBB) and a 3' DNase I hypersensitive site 1 (3'HS1). In this deletion, it is thought that the juxtaposition of the enhancer next to the remaining fetal Ggamma-globin gene (HBG2) is responsible for its persistent expression in adult blood. Experiments in transgenic mice show that this enhancer can result in persistent expression of a gamma-globin gene in adult blood. [provided by RefSeq, Apr 2017]

GeneCards Summary for LOC110013311 Gene

LOC110013311 (Hereditary Persistence Of Fetal Hemoglobin-6 3' Breakpoint Enhancer) is a Biological Region gene.

Additional gene information for LOC110013311 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 LOC110013311 Gene

Genomics for LOC110013311 Gene

Genomic Locations for LOC110013311 Gene

Genomic Locations for LOC110013311 Gene
chr11:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110013311 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110013311 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110013311 Gene

Proteins for LOC110013311 Gene

Post-translational modifications for LOC110013311 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110013311 Gene

Domains & Families for LOC110013311 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110013311 Gene

Function for LOC110013311 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 LOC110013311 Gene

Localization for LOC110013311 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 LOC110013311 Gene

Pathways & Interactions for LOC110013311 Gene

PathCards logo

SuperPathways for LOC110013311 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110013311 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110013311 Gene

Drugs & Compounds for LOC110013311 Gene

No Compound Related Data Available

Transcripts for LOC110013311 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110013311 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110013311 Gene

Expression for LOC110013311 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 LOC110013311 Gene

Orthologs for LOC110013311 Gene

No data available for Orthologs and Evolution for LOC110013311 Gene

Paralogs for LOC110013311 Gene

No data available for Paralogs for LOC110013311 Gene

Variants for LOC110013311 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC110013311 Gene

Disorders for LOC110013311 Gene

No disorders were found for LOC110013311 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110013311 Gene

Publications for LOC110013311 Gene

  1. Phenotypic expression of Hb F in common high Hb F determinants in Thailand: roles of α-thalassemia, 5' δ-globin BCL11A binding region and 3' β-globin enhancer. (PMID: 24112054) Prakobkaew N … Siriratmanawong N (European journal of haematology 2014) 3 54
  2. Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences. (PMID: 12855570) Katsantoni EZ … Strouboulis J (Blood 2003) 3 54
  3. A sequence with homology to human HPFH-linked enhancer elements and to a family of G-protein linked membrane receptor genes is located downstream of the chicken beta-globin locus. (PMID: 10395908) Staines DM … Thomas JO (Gene 1999) 3 54
  4. Molecular basis of hereditary persistence of fetal hemoglobin. (PMID: 9668525) Forget BG (Annals of the New York Academy of Sciences 1998) 3 54
  5. Molecular cloning of the breakpoints of the hereditary persistence of fetal hemoglobin type-6 (HPFH-6) deletion and sequence analysis of the novel juxtaposed region from the 3' end of the beta-globin gene cluster. (PMID: 9272169) Kosteas T … Anagnou NP (Human genetics 1997) 3 54

No data available for Mastermind for LOC110013311 Gene

Products for LOC110013311 Gene

Sources for LOC110013311 Gene