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HBFQTL2 hereditary persistence of fetal hemoglobin, heterocellular [ Homo sapiens (human) ]

Gene ID: 7954, updated on 17-Apr-2022

Summary

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Gene symbol
HBFQTL2
Gene description
hereditary persistence of fetal hemoglobin, heterocellular
Primary source
MIM:142470
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FCP; HPFH

Genomic context

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Location:
6q22.3-q23.1

Bibliography

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Related articles in PubMed

  1. Disrupting the adult globin promoter alleviates promoter competition and reactivates fetal globin gene expression. Topfer SK, et al. Blood, 2022 Apr 7. PMID 35090172, Free PMC Article
  2. Purification and identification of proteins that bind to the hereditary persistence of fetal hemoglobin -198 mutation in the gamma-globin gene promoter. Olave IA, et al. J Biol Chem, 2007 Jan 12. PMID 17114178, Free PMC Article
  3. Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23. Garner C, et al. Am J Hum Genet, 1998 Jun. PMID 9585587, Free PMC Article
  4. Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. Craig JE, et al. Nat Genet, 1996 Jan. PMID 8528252
  5. Fetal hemoglobin in sickle cell anemia. Akinsheye I, et al. Blood, 2011 Jul 7. PMID 21490337, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Disrupting the adult globin promoter alleviates promoter competition and reactivates fetal globin gene expression.
    Title: Disrupting the adult globin promoter alleviates promoter competition and reactivates fetal globin gene expression.
  2. high HbF is associated with generally milder but not asymptomatic disease in sickle cell anemia
    Title: Fetal hemoglobin in sickle cell anemia.
  3. nuclear extracts from murine erythroleukemia cells to purify a protein complex that binds the HPFH -198 gamma-globin gene promoter
    Title: Purification and identification of proteins that bind to the hereditary persistence of fetal hemoglobin -198 mutation in the gamma-globin gene promoter.
  4. sequences at the HPFH breakpoints act as enhancers, affecting the silencing of a LCRA gamma transgene; HPFH conditions arise from the juxtaposition of enhancers as well as permissive chromatin subdomains in the vicinity of the gamma-globin genes
    Title: Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences.
Submit: New GeneRIF Correction

Phenotypes

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hereditary persistence of fetal hemoglobin, heterocellular

General gene information

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Property

  • phenotype only

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