Identity
HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
CD113t-C,ECYT6,beta-globin
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: 3043
MIM: 141900
HGNC: 4827
Ensembl: ENSG00000244734
Variants:
dbSNP: 3043
ClinVar: 3043
TCGA: ENSG00000244734
COSMIC: HBB
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166189802 | voxelotor | Chemical | LabelAnnotation | associated | |||
| PA166190001 | luspatercept-aamt | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38009642 | 2024 | Sickle cell allele HBB-rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa. | 0 |
| 38425097 | 2024 | β(0)-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]. | 0 |
| 38679728 | 2024 | HBB as a Novel Biomarker for the Diagnosis and Monitoring of Lung Cancer Regulates Cell Proliferation via ERK1/2 Pathway. | 0 |
| 38009642 | 2024 | Sickle cell allele HBB-rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa. | 0 |
| 38425097 | 2024 | β(0)-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]. | 0 |
| 38679728 | 2024 | HBB as a Novel Biomarker for the Diagnosis and Monitoring of Lung Cancer Regulates Cell Proliferation via ERK1/2 Pathway. | 0 |
| 36214153 | 2023 | Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ)(0)-Thalassemia among Tunisian family. | 0 |
| 36811326 | 2023 | β-thalassemia intermedia mimicking β-thalassemia trait: The importance of family studies and HBB genotyping in phenotypically ambiguous cases. | 0 |
| 37092366 | 2023 | Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese. | 0 |
| 37309066 | 2023 | Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations. | 0 |
| 37310050 | 2023 | Clinical, Biochemical, and Hematological Presentation of a ß (+) Thalassemia due to the Poly A (T- > C) Mutation (HBB c.*110T > C (rs33978907)) Discovered in a Senegalese Family. | 0 |
| 37353956 | 2023 | Dominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB. | 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 |
| 37529858 | 2023 | Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the Kurdistan Region of Iraq. | 0 |
| 37548174 | 2023 | The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran. | 0 |
Citation
Dessen P
HBB (hemoglobin subunit beta)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45833/hbb-(hemoglobin-subunit-beta)
