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    HBG2 hemoglobin subunit gamma 2 [ Homo sapiens (human) ]

    Gene ID: 3048, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Methemoglobin levels in malaria: a systematic review and meta-analysis of its association with Plasmodium falciparum and Plasmodium vivax infections and disease severity.

    Methemoglobin levels in malaria: a systematic review and meta-analysis of its association with Plasmodium falciparum and Plasmodium vivax infections and disease severity.
    Kotepui M, Mahittikorn A, Wilairatana P, Masangkay FR, Wangdi K, Kotepui KU., Free PMC Article

    02/15/2024
    Can We Estimate Late-Onset Sepsis by Serial Methemoglobin Levels? An Observational Study in Preterm Neonates.

    Can We Estimate Late-Onset Sepsis by Serial Methemoglobin Levels? An Observational Study in Preterm Neonates.
    Vardar G, Rzayev T, Tezel KG, Ozek E.

    09/21/2023
    TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the gamma-globin gene promoters.

    TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the γ-globin gene promoters.
    Lin J, Ye Y, Shang X, Zhang Y, Wei X, Xu X.

    01/8/2022
    Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.

    Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
    Eernstman J, Veldhuisen B, Ligthart P, von Lindern M, van der Schoot CE, van den Akker E., Free PMC Article

    11/22/2021
    Activation of gamma-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin.

    Activation of γ-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin.
    Doerfler PA, Feng R, Li Y, Palmer LE, Porter SN, Bell HW, Crossley M, Pruett-Miller SM, Cheng Y, Weiss MJ., Free PMC Article

    09/11/2021
    XmnI Polymorphism in Sickle Cell Disease in North Morocco.

    XmnI Polymorphism in Sickle Cell Disease in North Morocco.
    Alaoui-Ismaili FZ, Laghmich A, Ghailani-Nourouti N, Barakat A, Bennani-Mechita M.

    08/21/2021
    Thalassemia Major and Intermedia Patients in East Java do not Show Fetal Hemoglobin Level Difference in Relation to XMNI Polymorphism.

    Thalassemia Major and Intermedia Patients in East Java do not Show Fetal Hemoglobin Level Difference in Relation to XMNI Polymorphism.
    Wulandari RD, Lyrawati D, Fatchiyah F, Fitri LE., Free PMC Article

    06/26/2021
    Multi-Locus Models to Address Hb F Variability in Portuguese beta-Thalassemia Carriers.

    Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers.
    Manco L, Bento C, Relvas L, Cunha E, Pereira J, Moreira V, Alvarez M, Maia T, Ribeiro ML.

    04/17/2021
    Association between BCL11A, HSB1L-MYB, and XmnI gammaG-158 (C/T) gene polymorphism and hemoglobin F level in Egyptian sickle cell disease patients.

    Association between BCL11A, HSB1L-MYB, and XmnI γG-158 (C/T) gene polymorphism and hemoglobin F level in Egyptian sickle cell disease patients.
    El-Ghamrawy M, Yassa ME, Tousson AMS, El-Hady MA, Mikhaeil E, Mohamed NB, Khorshied MM.

    10/3/2020
    Prx2 interacts with hemoglobin A (Alpha2Beta2) and hemoglobin F (Alpha2Gamma2) but not with hemoglobin A2 (Alpha2Delta2)

    Interactions between human hemoglobin subunits and peroxiredoxin 2.
    Ma Q, An L, Tian H, Liu J, Zhang L, Li X, Wei C, Xie C, Ding H, Qin W, Su Y.

    08/10/2019
    Some forms of hereditary persistence of fetal hemoglobin, a rare benign condition where individuals express the gamma-globin gene throughout adulthood, are caused by point mutations in the gamma-globin gene promoter at regions residing ~115 and 200 bp upstream of the transcription start site. We found that the major fetal globin gene repressors BCL11A and ZBTB7A directly bound to the sites at -115 and -200 bp, respecti...

    Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding.
    Martyn GE, Wienert B, Yang L, Shah M, Norton LJ, Burdach J, Kurita R, Nakamura Y, Pearson RCM, Funnell APW, Quinlan KGR, Crossley M.

    05/11/2019
    Data suggest that studying genotype frequency of the Xmn1 gammaG globin polymorphism (-158C>T ) in Siwa Oasis, Egypt can be considered as a starting point for further research targeting this community sector.

    A study on the genotype frequency of -158 Gγ (C→T) Xmn1 polymorphism in a sickle cell trait cohort from Siwa Oasis, Egypt.
    Moez P, Moftah R, Mahmoud HA.

    10/27/2018
    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.

    The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH).
    Aydin M, Rencuzogullari E, Dalyan A, Bayram S, Genc A.

    08/11/2018
    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.

    Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia.
    Vathipadiekal V, Alsultan A, Baltrusaitis K, Farrell JJ, Al-Rubaish AM, Al-Muhanna F, Naserullah Z, Suliman A, Patra PK, Milton JN, Farrer LA, Chui DH, Al-Ali AK, Sebastiani P, Steinberg MH., Free PMC Article

    12/2/2017
    The frequency of rs7482144 was determined in Colombian sickle cell anemia patients. It indicated a West African ethnic background.

    Genetic variants associated with fetal hemoglobin levels show the diverse ethnic origin in Colombian patients with sickle cell anemia.
    Fong C, Menzel S, Lizarralde MA, Barreto G.

    12/17/2016
    In Portuguese beta-thalassemia carriers the HBG2 XmnI polymorphism is strongly associated with HbF levels.

    Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.
    Pereira C, Relvas L, Bento C, Abade A, Ribeiro ML, Manco L.

    12/26/2015
    DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil.

    DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil.
    Cardoso GL, Diniz IG, Silva AN, Cunha DA, Silva Junior JS, Uchôa CT, Santos SE, Trindade SM, Cardoso Mdo S, Guerreiro JF.

    06/20/2015
    Its polymorphism effects HbF, HbE, MCV and MCH levels in Thai HbE carriers.

    Effect of Swiss-type heterocellular HPFH from XmnI-Gγ and HBBP1 polymorphisms on HbF, HbE, MCV and MCH levels in Thai HbE carriers.
    Kerdpoo S, Limweeraprajak E, Tatu T.

    04/18/2015
    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.

    A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A].
    Saller E, Kohne E, Dutly F, Frischknecht H.

    12/6/2014
    Hemoglobin gamma G plays a role in modifying clinical symptoms of beta-thalassemia innorthern Thailand.

    The associations of SEA-alpha thalassemia 1, XmnI-Ggamma polymorphism and beta-globin gene mutations with the clinical severity of beta-thalassemia syndrome in northern Thailand.
    Tatu T, Sritong W, Sa-Nguansermsri T.

    09/13/2014
    Data suggest that segregation of BCL11A haplotype 2 indicating an involvement of this locus in Hb F expression.

    Annotated definition of BCL11A and HMIP-2 haplotypes through the analysis of sicilian β-thalassemia patients with high levels of fetal hemoglobin.
    Buccheri MA, Spina S, Ruberto C, Lombardo T, Labie D, Ragusa AA.

    04/5/2014
    Hb F is regulated in inherited bone marrow failure syndromes by Xmn1-HBG2, as it is in the haemoglobinopathies.

    Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.
    Alter BP, Rosenberg PS, Day T, Menzel S, Giri N, Savage SA, Thein SL., Free PMC Article

    10/19/2013
    Our data suggest that a temporal repression mechanism is operative in the silencing of gamma-globin gene expression

    Mi2β is required for γ-globin gene silencing: temporal assembly of a GATA-1-FOG-1-Mi2 repressor complex in β-YAC transgenic mice.
    Costa FC, Fedosyuk H, Chazelle AM, Neades RY, Peterson KR., Free PMC Article

    05/11/2013
    results establish SATB2 as a novel gamma-globin gene regulator and provide a glimpse of the differential and cooperative roles of SATB family proteins in modulating clustered genes transcription

    The AT-rich DNA-binding protein SATB2 promotes expression and physical association of human (G)γ- and (A)γ-globin genes.
    Zhou LQ, Wu J, Wang WT, Yu W, Zhao GN, Zhang P, Xiong J, Li M, Xue Z, Wang X, Xie XM, Guo ZC, Lv X, Liu DP., Free PMC Article

    11/24/2012
    the study demonstrated that Egyptian beta-thalessemia patients have low frequency of positivity for the Xmnl polymorphism whether in heterozygous (+/-) or homozygous (+/+) state

    Prevalence of Xmnl Gγ polymorphism in Egyptian patients with β-thalassemia major.
    Tantawy AA, Andrawes NG, Ismaeil A, Kamel SA, Emam W., Free PMC Article

    11/17/2012
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