Property Summary

NCBI Gene PubMed Count 88
Grant Count 139
R01 Count 56
Funding $28,924,829.56
PubMed Score 3125.34
PubTator Score 225.66

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.500 0.000

Synonym

Accession P02100 Q6FH44
Symbols HBE

Gene

PANTHER Protein Class (1)

PDB

1A9W  

Gene RIF (27)

PMID Text
25043956 findings indicate the Xmn1-Ggamma polymorphism is likely to be one factor that influences the production of HbF in beta-thalassemia/HbE patients, but not in homozygous HbE patients
24371119 Data indicate that Myb and BCL11A cooperate with DNMT1 to achieve developmental repression of embryonic and fetal beta-like human transgenic globin genes in the adult erythroid environment.
23993951 Data indicate that in embryonic stem cells (hESCs)-derived erythroblasts where both epsilon and gamma globin were active, epsilon globin was immediately silenced upon transfer, whereas gamma globin continued to be expressed for months.
23161390 A plasma proteome analysis is performed to identify differentially expressed proteins compared between normal subjects and patients with mild and severe forms of beta-thalassemia/hemoglobin E (Hb E).
22738610 In the present study, involving the characterization of mutations in transfusion-dependent thalassemia in the Gwalior-Chambal region of Central India, Hb E [beta26(B8)Glu-->Lys, GAG>AAG] was found in high frequency.
22563848 Studies suggest that the Hb A(2)/E level at 21.54% is the best indicator for predicting co-inheritance of the alpha-thal-1 - -(SEA)/ deletion and Hb E trait.
22260787 the observed in vivo RBC mild oxidative stress arises, at least in part, from the molecular consequences of the HbE mutation.
21986214 investigation of interaction of HbE w/ other abnormal hemoglobins found in India isolated by cation exchange chromatography; interactions complicate Hb isolation and thus diagnosis of hemoglobinopathies/beta-thalassemias in heterozygous patients
20833979 patients with hemoglobin Ebeta thalassemia have a significant decrease in the oxygen affinity of their hemoglobin, that is an increased P(50) value, in response to anemia.
20822527 The frequency of the Ggamma-158(C-->T) polymorphism was relatively high in Southern Chinese patients with HbE/beta-thalassemia major.
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AA Sequence

MVHFTAEEKAAVTSLWSKMNVEEAGGEALGRLLVVYPWTQRFFDSFGNLSSPSAILGNPKVKAHGKKVLT      1 - 70
SFGDAIKNMDNLKPAFAKLSELHCDKLHVDPENFKLLGNVMVIILATHFGKEFTPEVQAAWQKLVSAVAI     71 - 140
ALAHKYH                                                                   141 - 147
//

Text Mined References (90)

PMID Year Title
25043956 2015 Analysis of the Xmn1-(G) ? polymorphism in ?-thalassemia/hemoglobin E (HbE) and homozygous HbE patients with low and high levels of HbF.
24371119 2014 Transcriptional regulators Myb and BCL11A interplay with DNA methyltransferase 1 in developmental silencing of embryonic and fetal ?-like globin genes.
23993951 2013 Transcriptional environment and chromatin architecture interplay dictates globin expression patterns of heterospecific hybrids derived from undifferentiated human embryonic stem cells or from their erythroid progeny.
23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23161390 2013 Differential plasma proteome profiles of mild versus severe ?-thalassemia/Hb E.
22738610 2012 Hb E/?-thalassemia: the second most common cause of transfusion-dependent thalassemia in the Gwalior-Chambal region of Central India.
22563848 2012 Hb A2/E levels found in co-inheritance with the ?-thalassemia-1 - -(SEA)/type deletion and either Hb E or ?-thalassemia.
22516433 2012 Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability.
22260787 2012 A transgenic mouse model expressing exclusively human hemoglobin E: indications of a mild oxidative stress.
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