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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HBG2
hemoglobin subunit gamma 2
Chromosome 11 · 11p15.4
NCBI Gene: 3048Ensembl: ENSG00000196565.15HGNC: HGNC:4832UniProt: D9YZU9
183PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
oxygen carrier activityprotein bindingoxygen transportblood microparticlecyanosis, transient neonatalHereditary persistence of fetal hemoglobin - beta-thalassemiahereditary persistence of fetal hemoglobin-sickle cell disease syndromehereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
✦AI Summary

HBG2 encodes the gamma-2 globin chain, a component of fetal hemoglobin (HbF, α2γ2) that is normally silenced after birth and replaced by adult hemoglobin (HbA, α2β2) 1. HBG2 functions as an oxygen carrier through heme binding and participates in oxygen and carbon dioxide transport within erythrocytes. The developmental silencing of HBG2 involves multiple regulatory mechanisms: NFI transcription factors (NFIA and NFIX) repress HBG2 partly by inducing BCL11A expression and through direct repression 2, while CpG methylation at the HBG2 promoter maintained by UHRF1 also facilitates gene silencing 3. HBG2 reactivation has major therapeutic potential for β-hemoglobinopathies. Multiple genome-editing approaches successfully reactivate HBG2 expression: HIF1α stabilization induces γ-globin transcription through BGLT3 1, adenine base editors achieve up to 60% editing efficiency at HBG2 promoter variants 4, and a single nucleotide insertion in the HBG2 distal promoter creates a FOXO3 binding site to increase expression 5. Clinical studies demonstrate that genetic variants in HBG2 significantly associate with fetal hemoglobin levels and sickle cell disease severity 6. These findings establish HBG2 reactivation as a promising therapeutic strategy for treating sickle cell disease and β-thalassemia.

Sources cited
1
HBG2 encodes gamma-2 globin chain of fetal hemoglobin; HIF1α stabilization induces γ-globin transcription through BGLT3 regulatory elements
PMID: 36224385
2
Adenine base editors (ABE8) achieve up to 60% editing efficiency at HBG1/HBG2 promoter to recreate natural alleles and cause persistence of fetal hemoglobin
PMID: 32284586
3
19 single-nucleotide variants in HBG2 are significantly associated with fetal hemoglobin levels and SCD severity
PMID: 37851445
4
CpG methylation at HBG2 promoters maintained by UHRF1 facilitates gene silencing; targeted demethylation activates HBG2 in erythroid cells
PMID: 40715076
5
NFIA and NFIX transcription factors repress HBG2 in adult erythroid cells partly by inducing BCL11A and through direct repression
PMID: 35618846
6
A single adenine insertion in HBG2 distal promoter creates FOXO3 binding site and significantly increases γ-globin expression in erythroid cells and mice
PMID: 40156013
Disease Associationsⓘ21
cyanosis, transient neonatalOpen Targets
0.74Strong
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.62Moderate
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.46Moderate
hemoglobinopathy Toms RiverOpen Targets
0.37Weak
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.37Weak
beta thalassemiaOpen Targets
0.33Weak
malariaOpen Targets
0.08Suggestive
SepsisOpen Targets
0.06Suggestive
anemiaOpen Targets
0.05Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
familial hemolytic anemiaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
methemoglobinemiaOpen Targets
0.03Suggestive
autosomal dominant cerebellar ataxiaOpen Targets
0.03Suggestive
ThalassemiaOpen Targets
0.02Suggestive
inherited hemoglobinopathyOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
Parkinson diseaseOpen Targets
0.02Suggestive
COVID-19Open Targets
0.02Suggestive
lymphomaOpen Targets
0.02Suggestive
Cyanosis transient neonatalUniProt
Pathogenic Variants11
NM_000184.3(HBG2):c.190C>T (p.His64Tyr)Likely pathogenic
Cyanosis, transient neonatal|not provided
★★☆☆2025→ Residue 64
NM_000184.3(HBG2):c.202G>A (p.Val68Met)Likely pathogenic
Cyanosis, transient neonatal|not provided
★☆☆☆2025→ Residue 68
NM_000184.2(HBG2):c.277C>T (p.His93Tyr)Pathogenic
Cyanosis, transient neonatal|not provided
★☆☆☆2021→ Residue 93
NM_000184.3(HBG2):c.85C>A (p.Leu29Met)Pathogenic
Cyanosis, transient neonatal
★☆☆☆2019→ Residue 29
NM_000184.3(HBG2):c.151TCTGCC[3] (p.51SA[3])Likely pathogenic
not provided
★☆☆☆2017
NC_000011.10:g.5255348A>CPathogenic
Hereditary persistence of fetal hemoglobin
☆☆☆☆2008
NM_000184.3(HBG2):c.191A>T (p.His64Leu)Pathogenic
Cyanosis, transient neonatal
☆☆☆☆2008→ Residue 64
NC_000011.10:g.5254895G>TPathogenic
Hereditary persistence of fetal hemoglobin
☆☆☆☆1999
NC_000011.10:g.5254956A>GPathogenic
Hereditary persistence of fetal hemoglobin
☆☆☆☆1993
NC_000011.10:g.5254895G>APathogenic
Hereditary persistence of fetal hemoglobin
☆☆☆☆1990
NC_000011.10:g.5254983G>CPathogenic
Hereditary persistence of fetal hemoglobin
☆☆☆☆1984
View on ClinVar ↗
Related Genes
AHSPProtein interaction94%HBDProtein interaction94%HBE1Protein interaction94%HBZProtein interaction91%EPB42Protein interaction90%HBA2Protein interaction90%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
80%
Ovary
64%
Lung
54%
Liver
25%
Heart
0%
Gene Interaction Network
Click a node to explore
HBG2AHSPHBDHBE1HBZEPB42HBA2
PROTEIN STRUCTURE
Preparing viewer…
PDB7QU4 · 1.66 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.38Moderately Constrained
pLIⓘ
0.96Intolerant
Observed/Expected LoF0.00 [0.00–0.38]
RankingsWhere HBG2 stands among ~20K protein-coding genes
  • #2,366of 20,598
    Most Researched183 · top quartile
  • #2,738of 5,498
    Most Pathogenic Variants11
  • #1,830of 17,882
    Most Constrained (LOEUF)0.38 · top quartile
Genes detectedHBG2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Activation of γ-globin expression by hypoxia-inducible factor 1α.
PMID: 36224385
Nature · 2022
1.00
2
Directed evolution of adenine base editors with increased activity and therapeutic application.
PMID: 32284586
Nat Biotechnol · 2020
0.90
3
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
PMID: 37851445
JAMA Netw Open · 2023
0.80
4
Removal of promoter CpG methylation by epigenome editing reverses HBG silencing.
PMID: 40715076
Nat Commun · 2025
0.70
5
CRISPR-Cas12a Gene Editing of
PMID: 41931048
N Engl J Med · 2026
0.68