Beta-globin gene expression regulation (Homo sapiens)

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Description

Cis- and trans-acting regulators shape gene expression within the β-globin cluster. The LDB1 complex (LDB1/LMO2/GATA1/TAL1) binds both the locus control region (LCR) and globin promoters, promoting chromatin looping to activate these genes—interactions that may be influenced by cis-acting variants linked to HbS haplotypes. Across the HBB gene cluster and its surrounding regions, BCL11A and ZBTB7A (LRF) binding sites are present, represented by red and blue stars. Each of these transcription factors recruits its own NuRD complex. MYB regulates HbF expression directly and also indirectly through KLF1 and BCL11A. Repression of the HbF genes is indicated by dashed lines. Inspired by [figure 1 in Habara et al. (2017)](https://pmc.ncbi.nlm.nih.gov/articles/PMC5647233/).

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Quality Tags

Ontology Terms

 

Bibliography

  1. Habara AH, Shaikho EM, Steinberg MH; ''Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents.''; Am J Hematol, 2017 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
141885view01:13, 26 November 2025EweitzOntology Term : 'erythroid lineage cell' added !
141884view01:13, 26 November 2025EweitzOntology Term : 'erythrocyte' added !
141883view01:12, 26 November 2025EweitzOntology Term : 'disease pathway' added !
141882view01:12, 26 November 2025EweitzOntology Term : 'sickle cell anemia' added !
141881view01:12, 26 November 2025EweitzOntology Term : 'sickle cell disease' added !
141880view01:11, 26 November 2025EweitzOntology Term : 'anemia' added !
141879view01:09, 26 November 2025EweitzAdd literature reference
141878view01:07, 26 November 2025EweitzModified description
141877view00:58, 26 November 2025EweitzRefine binding sites
141876view00:57, 26 November 2025Eweitz
141875view00:49, 26 November 2025EweitzAdd more binding sites
141874view00:38, 26 November 2025EweitzAdd BCL11A binding sites
141873view00:10, 26 November 2025EweitzFix Kaavio-PathVisio graphical discrepancy
141872view00:06, 26 November 2025EweitzRefine interactions
141871view00:03, 26 November 2025EweitzAdd interactions
141869view13:58, 25 November 2025EweitzAdd interactions
141868view13:00, 25 November 2025EweitzLabel hemoglobin stages and locus control region
141867view12:57, 25 November 2025EweitzArrange nodes
141866view12:52, 25 November 2025EweitzAdd gene identifiers
141865view12:19, 25 November 2025EweitzArrange nodes
141864view12:13, 25 November 2025EweitzAdd beta-globin genes
141863view12:11, 25 November 2025EweitzAdd HBBP1
141862view12:10, 25 November 2025EweitzNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
BCL11AGeneProductENSG00000119866 (Ensembl)
CHD3GeneProductENSG00000170004 (Ensembl)
DNMT1GeneProductENSG00000130816 (Ensembl)
FOG1GeneProductENSG00000179588 (Ensembl)
GATA1GeneProductENSG00000102145 (Ensembl)
GATAD2BGeneProductENSG00000143614 (Ensembl)
HBBGeneProductENSG00000244734 (Ensembl)
HBDGeneProductENSG00000223609 (Ensembl)
HBE1GeneProductENSG00000213931 (Ensembl)
HBG1GeneProductENSG00000213934 (Ensembl)
HBG2GeneProductENSG00000196565 (Ensembl)
HDAC1GeneProductENSG00000116478 (Ensembl)
HDAC2GeneProductENSG00000196591 (Ensembl)
KDM1AGeneProductENSG00000004487 (Ensembl) "LSD1" in source
KLF1GeneProductENSG00000105610 (Ensembl)
LCR 1GeneProduct109580095 (Entrez Gene)
LCR 2GeneProduct109580095 (Entrez Gene)
LCR 3GeneProduct109580095 (Entrez Gene)
LCR 4GeneProduct109580095 (Entrez Gene)
LCR 5GeneProduct109580095 (Entrez Gene)
LDB1GeneProductENSG00000198728 (Ensembl)
LMO2GeneProductENSG00000135363 (Ensembl)
MTA2GeneProductENSG00000149480 (Ensembl)
MYBGeneProductENSG00000118513 (Ensembl)
NR2C1GeneProductENSG00000120798 (Ensembl) "TR2" in source
NR2C2GeneProductENSG00000177463 (Ensembl) "TR4" in source
PPARGC1AGeneProductENSG00000109819 (Ensembl) "PGC1A" in source
TAL1GeneProductENSG00000162367 (Ensembl)
ZBTB7AGeneProductENSG00000178951 (Ensembl) "LRF" in source

Annotated Interactions

No annotated interactions

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