HBG2 - hemoglobin subunit gamma 2 Gene
Also Known as TNCY; HBG-T1
Species: Homo sapiens
About HBG2
This gene has 3 transcripts (splice variants), 549 orthologues, 11 paralogues and is associated with 5 phenotypes.
Summary
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]
HBG2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000184.3 | NP_000175.1 | hemoglobin subunit gamma-2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables oxygen carrier activity |
IDA
IDA: Inferred from direct assay
|
19065339 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in oxygen transport |
IDA
IDA: Inferred from direct assay
|
7543751 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of hemoglobin complex |
IPI
IPI: Inferred from physical interaction
|
881729 | GOA |
HBG2 Protein Structure
Globin: Globin (8 - 112)
- 0
- 100
- 147 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hemoglobin subunit gamma-2 |
|
HBG2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
HBG2 | P69892 | HBQ1 | Homo sapiens | P09105 | 32296183 | |
|
Intra
|
HBG2 | P69892 | HBQ1 | Homo sapiens | P09105 | 32296183 | |
|
Intra
|
HBG2 | P69892 | XPNPEP1 | Homo sapiens | Q9NQW7-3 | 32296183 | |
|
Intra
|
HBG2 | P69892 | XPNPEP1 | Homo sapiens | Q9NQW7-3 | 32296183 | |
|
Intra
|
HBG2 | P69892 | XPNPEP1 | Homo sapiens | Q9NQW7-3 | 32296183 | |
|
Intra
|
HBG2 | P69892 | HBM | Homo sapiens | Q6B0K9 | 32296183 | |
|
Intra
|
HBG2 | P69892 | HBM | Homo sapiens | Q6B0K9 | 32296183 | |
|
Intra
|
HBG2 | P69892 | HBM | Homo sapiens | Q6B0K9 | 32296183 | |
|
Intra
|
HBG2 | P69892 | HBA1 | Homo sapiens | P69905 | 32296183 | |
|
Intra
|
HBG2 | P69892 | HBA1 | Homo sapiens | P69905 | 32296183 | |
|
Intra
|
HBG2 | P69892 | HBA1 | Homo sapiens | P69905 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cyanosis, Transient Neonatal |
|
|
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
|
| Hemoglobinopathy Toms River |
|
|
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
|
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
|
| Acquired Methemoglobinemia |
|
|
| Sulfhemoglobinemia |
|
|
| Methemoglobinemia |
|
|
| Congenital Methemoglobinemia |
|
|
| Beta-Thalassemia |
|
|
| Glucosephosphate Dehydrogenase Deficiency |
|
|
| Sickle Cell Disease |
|
|
| Hemolytic Anemia |
|
|
| Alpha-Thalassemia |
|
|
| Thalassemia |
|
|
| Chronic Granulomatous Disease |
|
|
| Iron Deficiency Anemia |
|
|
| Pulmonary Hypertension |
|
|
| Beta-Thalassemia Intermedia |
|
|
| Hemoglobin C Disease |
|
|
| Thalassemia Minor |
|
|
| Autosomal Dominant Beta Thalassemia |
|
|
| Beta-Thalassemia Major |
|
|
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
|
| Ghosal Hematodiaphyseal Dysplasia |
|
|
| Adult Respiratory Distress Syndrome |
|
|
| Sickle Cell Anemia |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Hemoglobinopathy |
|
|
| Blood Protein Disease |
|
|
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
|
| Congenital Hemolytic Anemia |
|
|
| Neonatal Jaundice |
|
|
| Deficiency Anemia |
|
|
| Lung Disease |
|
|
| Neonatal Anemia |
|
|
| Hemoglobin E Disease |
|
|
| Malaria |
|
|
| Heart Disease |
|
|