GENETIC ENCYCLOPEDIA
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gene: HBG2

id3048
symbolHBG2
organismHomo sapiens
full namehemoglobin subunit gamma 2
summaryThe gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
variant-disease

NM_000184.2(HBG2):c.353A>G (p.His118Arg) AND HEMOGLOBIN F (MALTA)

NM_000184.2(HBG2):c.377A>C (p.Glu126Ala) AND HEMOGLOBIN F (PORT ROYAL)

NM_000184.2(HBG2):c.364G>A (p.Glu122Lys) AND HEMOGLOBIN F (CARLTON)

HBG2, T-G, -567 AND Fetal hemoglobin quantitative trait locus 1

NM_000184.2(HBG2):c.361A>C (p.Lys121Gln) AND HEMOGLOBIN F (CALTECH)

... 65 more


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