HBB Gene Summary [Human]
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. 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]
Details
| Type | Protein Coding |
| Official Symbol | HBB |
| Official Name | hemoglobin subunit beta [Source:HGNC Symbol;Acc:HGNC:4827] |
| Ensembl ID | ENSG00000244734 |
| Bio databases IDs | |
| Aliases | hemoglobin subunit beta |
| Synonyms | Beta-globin, Beta-haemoglobin, Beta-Hemoglobin, beta -THALASSaemia, beta -THALASSEMIA, CD113t-C, ECYT6, haemoglobin, haemoglobin beta, haemoglobin, beta, haemoglobin subunit beta, haemoglobin subunit β, haemoglobin β, haemoglobin, β, Hb β, hemoglobin, hemoglobin, beta, hemoglobin subunit beta, hemoglobin subunit β, hemoglobin β, hemoglobin, β, LOC293265, β-globin, β-haemoglobin, β-Hemoglobin, β -THALASSaemia, β -THALASSEMIA |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HBB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Globin
- oxygen transporter
- oxygen binding
- peroxidase
- binding protein
- Globin-like protein superfamily
- enzyme
- protein binding
- hemoglobin binding
Pathways
Biological processes and signaling networks where the HBB gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- falciparum malaria
- malaria
- anemia
- pneumonia
- COVID-19
- epithelial cancer
- beta-zero-thalassemia
- gamma-delta-beta thalassemia
- vaso-occlusion
role in cell
- proliferation
- expression in
- phosphorylation in
- production in
- survival
- apoptosis
- cell viability
- quantity
- aggregation
- internalization by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- ficolin-1-rich granule lumen
- Cytoplasm
- cell periphery
- organelle lumens
- Nucleus
- Mitochondria
- cytosol
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HBB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of nitric oxide biosynthetic process
- renal absorption
- oxygen transport
- nitric oxide transport
- carbon dioxide transport
- response to hydrogen peroxide
- platelet aggregation
- regulation of blood pressure
- hydrogen peroxide catabolic process
Cellular Component
Where in the cell the gene product is active
- hemoglobin complex
- extracellular space
- extracellular vesicular exosome
- endocytic vesicle lumen
- blood microparticle
- haptoglobin-hemoglobin complex
- cytosol
- extracellular region
Molecular Function
What the gene product does at the molecular level
- oxygen binding
- peroxidase activity
- protein binding
- metal ion binding
- hemoglobin binding
- organic acid binding
- hemoglobin alpha binding
- oxygen transporter activity
- haptoglobin binding
- heme binding