Property Summary

NCBI Gene PubMed Count 150
Grant Count 4
Funding $39,821.95
PubMed Score 46.62
PubTator Score 1994.06

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P69892 A8MZE0 P02096 P62027 Q14491 Q68NH9 Q96FH6 Q96FH7
Symbols TNCY
HBG-T1

Gene

PANTHER Protein Class (1)

PDB

1FDH   4MQJ   4MQK  

Gene RIF (38)

PMID Text
25842369 In Portuguese beta-thalassemia carriers the HBG2 XmnI polymorphism is strongly associated with HbF levels.
25123009 Hemoglobin gamma G plays a role in modifying clinical symptoms of beta-thalassemia innorthern Thailand.
25084696 DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil.
24502349 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.
24474642 Its polymorphism effects HbF, HbE, MCV and MCH levels in Thai HbE carriers.
23777413 Data suggest that segregation of BCL11A haplotype 2 indicating an involvement of this locus in Hb F expression.
23713742 Hb F is regulated in inherited bone marrow failure syndromes by Xmn1-HBG2, as it is in the haemoglobinopathies.
23284307 Our data suggest that a temporal repression mechanism is operative in the silencing of gamma-globin gene expression
22871617 the study demonstrated that Egyptian beta-thalessemia patients have low frequency of positivity for the Xmnl polymorphism whether in heterozygous (+/-) or homozygous (+/+) state
22825848 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
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AA Sequence

MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLT      1 - 70
SLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVAS     71 - 140
ALSSRYH                                                                   141 - 147
//

Text Mined References (154)

PMID Year Title
25842369 2015 Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.
25123009 2014 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.
25084696 2014 DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil.
24502349 2014 A new (G)?-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)?105(G7)Leu?His; HBG2: c.317T>A].
24474642 2014 Effect of Swiss-type heterocellular HPFH from XmnI-G? and HBBP1 polymorphisms on HbF, HbE, MCV and MCH levels in Thai HbE carriers.
23777413 2013 Annotated definition of BCL11A and HMIP-2 haplotypes through the analysis of sicilian ?-thalassemia patients with high levels of fetal hemoglobin.
23713742 2013 Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes.
23284307 2012 Mi2? is required for ?-globin gene silencing: temporal assembly of a GATA-1-FOG-1-Mi2 repressor complex in ?-YAC transgenic mice.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22871617 Prevalence of Xmnl G? polymorphism in Egyptian patients with ?-thalassemia major.
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