GeneID: 8
Names
Common Name: | Gγ | 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 |
Description:
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
Comments:
N/A
Number of entries/variants: 143
Publications / Origin
- 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
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2014-04-01 14:19:10 | The IthaGenes Curation Team | Created |
2 | 2014-04-09 18:29:45 | The IthaGenes Curation Team | Reviewed. |
3 | 2016-04-28 10:44:31 | The IthaGenes Curation Team | Reviewed. |