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LOC110011217 hereditary persistence of fetal hemoglobin-1 and -2 3' breakpoint enhancers [ Homo sapiens (human) ]

Gene ID: 110011217, updated on 10-Oct-2023

Summary

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Gene symbol
LOC110011217
Gene description
hereditary persistence of fetal hemoglobin-1 and -2 3' breakpoint enhancers
Gene type
biological region
Feature type(s)
misc_recomb: chromosome_breakpoint
regulatory: DNase_I_hypersensitive_site, enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This locus represents an enhancer region that is present downstream of the beta-globin gene cluster on chromosome 11 (with respect to the direction of beta-globin gene transcription). This region is immediately downstream of the 3' breakpoints of hereditary persistence of fetal hemoglobin-1 (HPFH-1) and HPFH-2 deletions, where both deletions remove the adult beta-globin genes (HBD and HBB) and a 3' DNase I hypersensitive site 1 (3'HS1). In these deletions, it is thought that the juxtaposition of the 3' enhancers next to the fetal gamma-globin genes (HBG1 and HBG2) are responsible for the persistent expression of the fetal globin genes in adult blood. Two enhancer elements and multiple DNase I hypersensitive sites have been identified in this genomic region. Experiments in transfected cells and transgenic mice show that these enhancers can activate fetal gamma-globin gene expression in constructs that juxtapose them with the fetal genes. [provided by RefSeq, Apr 2017]
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Genomic context

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Location:
11p15.4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5147154..5160466)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5206496..5219815)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5168384..5181696)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 52 subfamily A member 4 pseudogene Neighboring gene olfactory receptor family 52 subfamily A member 5 Neighboring gene olfactory receptor family 52 subfamily A member 1 Neighboring gene hereditary persistence of fetal hemoglobin-6 3' breakpoint enhancer Neighboring gene olfactory receptor family 51 subfamily A member 1 pseudogene Neighboring gene olfactory receptor family 52 subfamily Z member 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Homozygous deletion of six olfactory receptor genes in a subset of individuals with Beta-thalassemia. Van Ziffle J, et al. PLoS One, 2011 Feb 24. PMID 21390308, Free PMC Article
  2. Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Tuan D, et al. Proc Natl Acad Sci U S A, 1983 Nov. PMID 6196781, Free PMC Article
  3. DNA methylation in hereditary persistence of fetal hemoglobin (HPFH-2). Poncz M, et al. Nucleic Acids Res, 1987 Jul 10. PMID 3601670, Free PMC Article
  4. The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the beta-globin gene cluster. Feingold EA, et al. Blood, 1989 Nov 1. PMID 2478223
  5. Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints. Henthorn PS, et al. Genomics, 1990 Feb. PMID 2307466

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • HPFH-1 enhancer
  • HPFH-2 enhancer
  • HPFH2 element

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053076.1 

    Range
    101..13413
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    5147154..5160466
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    5206496..5219815
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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