GeneID: 129



Names

Common Name: HBG2-HBE1 Type: Intergenic Region
Chromosome: 11 (NC_000011.10) Locus: N/A
HUGO Symbol: HBG2-HBE1 Full Name: N/A
Exons: N/A Introns: N/A

Description:
HBE encodes the embryonic globin gene, which is normally expressed in the embryonic yolk sac. The combination of two epsilon (ε) chains together with two zeta (ζ) chains (an α-like globin) constitutes the embryonic haemoglobin Hb Gower I, while together with two alpha (α) chains forms the embryonic Hb Gower II. Both of these embryonic haemoglobins are normally supplanted by fetal, and later, adult haemoglobin. HBG2 encodes one of the two fetal globin genes (HBG1 and HBG2), which are normally expressed in the fetal liver, spleen and bone marrow. The HBG genes are the result of a 5 kb tandem duplication and differ at position 136 of the HBG chain to encode glutamic acid (Gγ; HBG2) or alanine (Aγ; HBG1). The combination of two γ-globin chains and two α-globin chains forms fetal haemoglobin (HbF; α2γ2). The globin genes are arranged as 5'-ε(HBE)-Gγ(HBG2)-Aγ(HBG1)-ψβ(HBBP1)-δ(HBD)-β(HBB)-3' on the β-globin locus and are expressed sequentially in a tissue- and developmental-specific manner under the control of the locus control region (βLCR). Polymorphisms in this intergenic region (HBG2-HBE1) associated with HbF levels in sickle cell patients.

Synonyms: N/A

Comments:
N/A

External Links

No available links

Sequence Viewer

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Publications / Origin

  1. Ma Q, Abel K, Sripichai O, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Fucharoen S, Braun A, Farrer LA, Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia., Clin. Genet. , 72(6), 497-505, 2007 PubMed
  2. Liu L, Pertsemlidis A, Ding LH, Story MD, Steinberg MH, Sebastiani P, Hoppe C, Ballas SK, Pace BS, A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease., Exp. Biol. Med. (Maywood) , 2016 PubMed
Created on 2016-04-27 16:18:29, Last reviewed on 2016-04-28 11:29:56 (Show full history)


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