HBB Gene - Hemoglobin Subunit Beta
Essential gene for oxygen transport; mutations cause hemoglobinopathies
Gene Information Card
| Symbol | HBB |
|---|---|
| Full Name | Hemoglobin Subunit Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 3043 ncbi.nlm.nih.gov/gene/3043 |
| Ensembl ID | ENSG00000244734 |
| UniProt ID | P68871 |
| OMIM ID | 141900 |
| HGNC ID | 4827 |
| Aliases | CD113t, beta-globin, hemoglobin beta chain |
Description
The HBB gene encodes the beta-globin subunit of adult hemoglobin (HbA), a tetramer of two alpha and two beta chains. It is essential for oxygen transport in red blood cells. Mutations in HBB cause hemoglobinopathies such as sickle cell disease and beta-thalassemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sickle Cell Disease | Glu6Val substitution (HbS) causes polymerization of deoxygenated hemoglobin, leading to red cell sickling and vaso-occlusion | ClinVar, OMIM |
| Beta-Thalassemia | Nonsense, frameshift, or splice-site mutations reduce or abolish beta-globin synthesis, causing microcytic anemia | ClinVar, OMIM |
| HbC Disease | Glu6Lys substitution (HbC) reduces solubility and causes mild hemolytic anemia | ClinVar, OMIM |
| HbE Disease | Glu26Lys substitution (HbE) leads to unstable hemoglobin and mild thalassemia phenotype | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 1500.0 | High |
| Spleen | 200.0 | Medium |
| Blood | 100.0 | Medium |
| Liver | 50.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 1200.0 | Erythroleukemia cell line; high expression |
| HEL | 900.0 | Erythroleukemia cell line |
| TF-1 | 800.0 | Erythroid progenitor cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.20A>T (p.Glu6Val) | Missense | Common (HbS) | Sickle cell disease |
| c.20A>G (p.Glu6Gly) | Missense | Rare | HbC disease |
| c.79G>A (p.Glu26Lys) | Missense | Common in Southeast Asia | HbE disease |
| c.92+1G>T | Splice site | Rare | Beta-thalassemia |
| c.118C>T (p.Gln40Ter) | Nonsense | Rare | Beta-thalassemia |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations cause beta-thalassemia by reducing or abolishing beta-globin production.
Gain of Function (GOF)
Not typically described; missense mutations like Glu6Val alter protein function but do not confer new enzymatic activity.
Dominant Negative (DN)
Some unstable hemoglobin variants (e.g., Hb Köln) can cause dominant hemolytic anemia by precipitating and damaging red cell membrane.
View complete mutation data：
Gene Ontology (GO)
| • oxygen carrier activity (GO:0005344) | • heme binding (GO:0020037) |
| • iron ion binding (GO:0005506) | • hemoglobin complex (GO:0005833) |
| • oxygen transport (GO:0015671) |
Pathways
• Erythropoietin signaling pathway
• Heme biosynthesis
• Oxygen transport
Protein Summary
Hemoglobin subunit beta (UniProt P68871) is a 147-amino acid protein that forms the beta chain of adult hemoglobin. It binds heme and oxygen cooperatively with alpha-globin. Mutations cause structural or quantitative defects leading to hemoglobinopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HBB Knockout HEK293 Cell Line | EDJ-KQ3886 | Human | 3043 | Details Get a Quote |
| INHBB Knockout HEK293 Cell Line | EDJ-KQ50394 | Human | 3625 | Details Get a Quote |
| HBB Knockout HeLa Cell Line | EDJ-KQ53495 | Human | 3043 | Details Get a Quote |
| INHBB Knockout HeLa Cell Line | EDJ-KQ53662 | Human | 3625 | Details Get a Quote |
| HBB Knockout A-549 Cell Line | EDJ-KQ61966 | Human | 3043 | Details Get a Quote |
| INHBB Knockout A-549 Cell Line | EDJ-KQ62136 | Human | 3625 | Details Get a Quote |
| HBB Knockout HCT 116 Cell Line | EDJ-KQ70447 | Human | 3043 | Details Get a Quote |
| INHBB Knockout HCT 116 Cell Line | EDJ-KQ70626 | Human | 3625 | Details Get a Quote |
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