Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
ECYT7,HBA-T2,HBH
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3040
MIM: 141850
HGNC: 4824
Ensembl: ENSG00000188536
Variants:
dbSNP: 3040
ClinVar: 3040
TCGA: ENSG00000188536
COSMIC: HBA2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000188536 | ENST00000251595 | P69905 |
| ENSG00000188536 | ENST00000251595 | D1MGQ2 |
| ENSG00000188536 | ENST00000397806 | G3V1N2 |
| ENSG00000188536 | ENST00000484216 | A0A2R8Y7C0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38542374 | 2024 | Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management. | 1 |
| 38626234 | 2024 | Hb H disease associated with compound heterozygosity for --(SEA) deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family. | 0 |
| 38660861 | 2024 | [Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations]. | 0 |
| 38926992 | 2024 | [Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene]. | 0 |
| 38542374 | 2024 | Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management. | 1 |
| 38626234 | 2024 | Hb H disease associated with compound heterozygosity for --(SEA) deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family. | 0 |
| 38660861 | 2024 | [Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations]. | 0 |
| 38926992 | 2024 | [Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene]. | 0 |
| 36572139 | 2023 | Identification of a novel 107 kb deletion in the alpha-globin gene cluster using third-generation sequencing. | 1 |
| 36939273 | 2023 | Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family. | 0 |
| 37098594 | 2023 | Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population. | 1 |
| 37213176 | 2023 | Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing (HBA2:c.224A>G). | 0 |
| 37519097 | 2023 | Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes. | 0 |
| 37548329 | 2023 | Detecting rare thalassemia in children with anemia using third-generation sequencing. | 0 |
| 38123476 | 2023 | Association of alpha globin gene copy number with exhaled nitric oxide in a cross-sectional study of healthy Black adults. | 0 |
Citation
Dessen P
HBA2 (hemoglobin subunit alpha 2)
Atlas Genet Cytogenet Oncol Haematol. 2013-08-01
Online version: http://atlasgeneticsoncology.org/gene/53728/hba2-(hemoglobin-subunit-alpha-2)
