GeneID: 8


Common Name: Type: Gene
Chromosome: 11 (NC_000011.10) Locus: NG_000007.3 (β-locus)
HUGO Symbol: HBG2 Full Name: hemoglobin subunit gamma 2
Exons: 3 Introns: 2

The γ-globin genes (HBG1 and HBG2) are active during fetal growth and are normally expressed in the fetal liver, spleen and bone marrow. The combination of two γ-globin chains and two α-globin chains forms fetal haemoglobin (HbF; α2γ2). HbF is normally replaced by adult haemoglobin (HbA) at birth. 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 former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-ε(HBE)-Gγ(HBG2)-Aγ(HBG1)-ψβ(HBBP1)-δ(HBD)-β(HBB)-3'.

Synonyms: HBG-T1


Number of entries/variants: 143


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Publications / Origin

  1. Slightom JL, Blechl AE, Smithies O, Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes., Cell , 21(3), 627-38, 1980 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-28 10:44:31 (Show full history)

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