Recombinant Human Hemoglobin subunit gamma-2 (HBG2)

1. The results suggested that there was a significant relationship between high fetal hemoglobin levels and two variations (-309A/T and -369C/G) in Ggamma gene promotor. PMID: 29412791
2. Genetic association studies provide a rationale for functional studies of HBG2 expression in wild-type and T/A/T haplotype erythroblasts and mechanistic studies like chromatin conformation capture experiments, to evaluate the role of chromatin looping as a mediator of the T/A/T haplotype effects on HbF. PMID: 27185208
3. The frequency of rs7482144 was determined in Colombian sickle cell anemia patients. It indicated a West African ethnic background. PMID: 26849705
4. In Portuguese beta-thalassemia carriers the HBG2 XmnI polymorphism is strongly associated with HbF levels. PMID: 25842369
5. DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil. PMID: 25084696
6. Its polymorphism effects HbF, HbE, MCV and MCH levels in Thai HbE carriers. PMID: 24474642
7. Data indicate that the T to A conversion results in a leucine to histidine amino acid change at codon 105 of the (G)gamma-globin HBG2 gene and caused a hemoglobin (Hb) variant with lowered oxygen affinity. PMID: 24502349
8. Hemoglobin gamma G plays a role in modifying clinical symptoms of beta-thalassemia innorthern Thailand. PMID: 25123009
9. Hb F is regulated in inherited bone marrow failure syndromes by Xmn1-HBG2, as it is in the haemoglobinopathies. PMID: 23713742
10. Our data suggest that a temporal repression mechanism is operative in the silencing of gamma-globin gene expression PMID: 23284307
11. the study demonstrated that Egyptian beta-thalessemia patients have low frequency of positivity for the Xmnl polymorphism whether in heterozygous (+/-) or homozygous (+/+) state PMID: 22871617
12. although the prevalence of Xmn1-(G)gamma polymorphism is high in beta thalassemia intermedia patients, it alone could not predict clinical severity of disease PMID: 21755589
13. Chromatin looping between the Ggamma-globin gene and LCR HSs requires NF-E2. PMID: 21609963
14. We identified a missense mutation in the fetal Ggamma-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and anemia. PMID: 21561349
15. 12 molecules in the unit cell describe a right-handed helical filament having no polarity, which is different from the filament composed of HbS fibers, which is the only other well characterized fiber of human hemoglobin PMID: 21123872
16. The polymorphisms -396_-391 del HBG2, -369 SNP HBG2 and -271 SNP HBG1 correlated with HbF levels, hence, it suggests an important role of HBG2 and HBG1 gene polymorphisms on the HbF synthesis. PMID: 20602015
17. The recently identified chromatin factor Friend of Prmt1 (FOP) is a critical modulator of gamma-globin gene expression. PMID: 20688955
18. A G>C substitution at position 479 of the (G)gamma-globin gene results in a glutamic acid to glutamine substitution at codon 101 of the (G)gamma-globin chain, a new gamma chain variant that we have named Hb F-Zhejiang PMID: 20113294
19. Data suggest the G gamma-globin promoter is activated by cJun via an upstream cAMP response element. PMID: 19861239
20. No statistically significant difference in the frequency of positive XmnI(G)gamma polymorphism was observed between thalassemia intermedia and thalassemia major patients. PMID: 19892574
21. Data show that (G)Gamma-158(C-->T) had a strong association with moderately increased Hb F levels in beta-thalassemia heterozygotes in the Guangxi area of China. PMID: 15476181
22. 3' flank of the Ggamma-globin gene contains multiple weak pause elements which, combined with the strong polyA signal the gene possesses, are likely to cause gradual termination across the 3' flank. PMID: 15798211
23. A determinant linked to the XmnI restriction site which effects Ggamma-globin gene expression (and Hemoglobin F production) is active in beta-Thalassemic (anemic) adults but not in normal infants. PMID: 17365007
24. analysis of heme uptake from human methemoglobin by the iron-regulated surface determinants system of Staphylococcus aureus PMID: 18467329
25. HBG2:g-109G>T mutation has a functional role in increasing HBG2 transcription and is responsible for the hereditary persistence of fetal hemoglobin phenotype observed in our index cases PMID: 19050890

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HGNC: 4832

OMIM: 142250

KEGG: hsa:3048

STRING: 9606.ENSP00000338082

UniGene: Hs.302145