HBG2 Chromosome 11
Hemoglobin subunit gamma 2
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What This Gene Does
The 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]
Gene Info
Gene Group
Hemoglobin subunits
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000196565
Associated Conditions (3)
Cyanosis
transient neonatal
Hereditary persistence of fetal hemoglobin
Key Variants
RS1438114920
Conflicting classifications of pathogenicity
Cyanosis, transient neonatal, Cyanosis
Health Risk
RS1554922455
Likely pathogenic
Health Risk
RS34474104
Likely pathogenic
Cyanosis, transient neonatal, Cyanosis
Health Risk
RS587776864
Likely pathogenic
Cyanosis, transient neonatal, Cyanosis
Health Risk
RS1278163109
Pathogenic
Cyanosis, transient neonatal, Cyanosis
Health Risk
RS2494334628
Pathogenic
Cyanosis, transient neonatal, Cyanosis
Health Risk
RS34809449
Pathogenic
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
Health Risk
RS35103459
Pathogenic
Cyanosis, transient neonatal, Cyanosis
Health Risk
RS35617911
Pathogenic
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
Health Risk
RS63750654
Pathogenic
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
Health Risk
RS866138115
Pathogenic
Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1438114920 | Health Risk | Conflicting classifications of pathogenicity | Cyanosis, transient neonatal, Cyanosis |
| RS1554922455 | Health Risk | Likely pathogenic | — |
| RS34474104 | Health Risk | Likely pathogenic | Cyanosis, transient neonatal, Cyanosis |
| RS587776864 | Health Risk | Likely pathogenic | Cyanosis, transient neonatal, Cyanosis |
| RS1278163109 | Health Risk | Pathogenic | Cyanosis, transient neonatal, Cyanosis |
| RS2494334628 | Health Risk | Pathogenic | Cyanosis, transient neonatal, Cyanosis |
| RS34809449 | Health Risk | Pathogenic | Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |
| RS35103459 | Health Risk | Pathogenic | Cyanosis, transient neonatal, Cyanosis |
| RS35617911 | Health Risk | Pathogenic | Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |
| RS63750654 | Health Risk | Pathogenic | Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |
| RS866138115 | Health Risk | Pathogenic | Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin |