HBD Gene Summary [Human]
The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HBD |
| Official Name | hemoglobin subunit delta [Source:HGNC Symbol;Acc:HGNC:4829] |
| Ensembl ID | ENSG00000223609 |
| Bio databases IDs | |
| Aliases | hemoglobin subunit delta |
| Synonyms | delta GLOBIN, haemoglobin, delta, haemoglobin subunit delta, haemoglobin subunit δ, haemoglobin, δ, HBK, hemoglobin, delta, hemoglobin subunit delta, hemoglobin subunit δ, hemoglobin, δ, δ GLOBIN |
| Species | Human, Homo sapiens |
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 HBD 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
- Globin-like protein superfamily
- protein binding
- transporter
Pathways
Biological processes and signaling networks where the HBD 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
- delta zero thalassemia
- metabolic syndrome X
- delta thalassemia
- epileptic seizure
- delta beta-thalassemia
- glucorticoid remediable aldosteronism
- delta plus thalassemia
- renal cell carcinoma
- renal cell cancer
- aortic valve calcification
regulates
- oxygen
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- detergent resistant lipid raft fraction
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HBD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oxygen transport
- carbon dioxide transport
- hydrogen peroxide catabolic process
Cellular Component
Where in the cell the gene product is active
- hemoglobin complex
- blood microparticle
- haptoglobin-hemoglobin complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- peroxidase activity
- oxygen binding
- protein binding
- metal ion binding
- organic acid binding
- hemoglobin alpha binding
- oxygen transporter activity
- haptoglobin binding
- heme binding