HBD (Hemoglobin Subunit Delta)
Gene encoding the delta-globin chain of adult hemoglobin (HbA2)
Gene Information Card
| Symbol | HBD |
|---|---|
| Full Name | Hemoglobin Subunit Delta |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 3045 ncbi.nlm.nih.gov/gene/3045 |
| Ensembl ID | ENSG00000223609 |
| UniProt ID | P02042 |
| OMIM ID | 142000 |
| HGNC ID | 4828 |
| Aliases | delta-globin, HbA2, HBD@ |
Description
The HBD gene encodes the delta-globin chain, a component of adult hemoglobin A2 (HbA2, α2δ2). Delta-globin is synthesized in erythroid cells and combines with alpha-globin to form HbA2, which constitutes approximately 2-3% of total hemoglobin in adults. Mutations in HBD can cause delta-thalassemia or altered HbA2 levels, often used as diagnostic markers for beta-thalassemia trait.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Delta-Thalassemia | Decreased or absent delta-globin chain production due to HBD mutations, leading to reduced HbA2 levels. | ClinVar, OMIM |
| Hemoglobinopathy with altered HbA2 | Point mutations in HBD can produce variant hemoglobins (e.g., HbA2') with abnormal electrophoretic mobility. | ClinVar, OMIM |
| Beta-Thalassemia trait (diagnostic marker) | Low HbA2 levels (due to delta-thalassemia) can mask the elevated HbA2 typical of beta-thalassemia trait, complicating diagnosis. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Blood (whole) | 8.2 | Medium |
| Spleen | 1.3 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 15.0 | High expression; erythroid lineage |
| HEL (erythroleukemia) | 10.2 | High expression |
| HepG2 (liver) | 0.3 | Not detected |
| HeLa (cervical) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.-127T>C | Promoter | Rare | Reduced HBD transcription; delta-thalassemia |
| c.49G>A (p.Gly17Ser) | Missense | Rare | HbA2' variant; altered electrophoretic mobility |
| c.315+1G>A | Splice donor | Rare | Splicing defect; delta-thalassemia |
| c.430A>G (p.Thr144Ala) | Missense | Rare | HbA2 variant; unstable hemoglobin |
Mutation functional classification
Loss of Function (LOF)
Promoter and splice site mutations reduce or abolish delta-globin production, causing delta-thalassemia.
Gain of Function (GOF)
Not reported for HBD.
Dominant Negative (DN)
Not reported for HBD.
View complete mutation data：
Gene Ontology (GO)
| • oxygen carrier activity (GO:0005344) | • heme binding (GO:0020037) |
| • hemoglobin complex (GO:0005833) | • oxygen transport (GO:0015671) |
| • hydrogen peroxide catabolic process (GO:0042744) |
Pathways
• Erythropoietin signaling pathway (Reactome R-HSA-9006934)
• Oxygen transport (Reactome R-HSA-1483076)
Protein Summary
Hemoglobin subunit delta (UniProt P02042) is a 147-amino acid protein that forms the delta-globin chain. It assembles with two alpha-globin chains to form hemoglobin A2 (α2δ2), a minor adult hemoglobin. The protein contains a heme-binding pocket and is involved in oxygen transport. Structural variants (e.g., HbA2') arise from missense mutations and are clinically benign but diagnostically relevant.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THBD Knockout HEK293 Cell Line | EDJ-KQ3232 | Human | 7056 | Details Get a Quote |
| HBD Knockout HEK293 Cell Line | EDJ-KQ4846 | Human | 3045 | Details Get a Quote |
| RHBDL1 Knockout HEK293 Cell Line | EDJ-KQ6434 | Human | 9028 | Details Get a Quote |
| RHBDL3 Knockout HEK293 Cell Line | EDJ-KQ7620 | Human | 162494 | Details Get a Quote |
| RHBDD3 Knockout HEK293 Cell Line | EDJ-KQ8239 | Human | 25807 | Details Get a Quote |
| RHBDD1 Knockout HEK293 Cell Line | EDJ-KQ10022 | Human | 84236 | Details Get a Quote |
| RHBDL2 Knockout HEK293 Cell Line | EDJ-KQ11295 | Human | 54933 | Details Get a Quote |
| RHBDF1 Knockout HEK293 Cell Line | EDC90135 | Human | 64285 | Details Get a Quote |
| RHBDD2 Knockout HEK293 Cell Line | EDJ-KQ15059 | Human | 57414 | Details Get a Quote |
| RHBDF2 Knockout HEK293 Cell Line | EDC07822 | Human | 79651 | Details Get a Quote |
| RHBDL3 Knockout A-549 Cell Line | EDJ-KQ32963 | Human | 162494 | Details Get a Quote |
| RHBDL3 Knockout HCT 116 Cell Line | EDJ-KQ32964 | Human | 162494 | Details Get a Quote |
| RHBDL3 Knockout HeLa Cell Line | EDJ-KQ32965 | Human | 162494 | Details Get a Quote |
| RHBDD3 Knockout A-549 Cell Line | EDJ-KQ34157 | Human | 25807 | Details Get a Quote |
| RHBDD3 Knockout HCT 116 Cell Line | EDJ-KQ34158 | Human | 25807 | Details Get a Quote |
Displaying Records 1 To 15 Of 43 Records
- 1
- 2
- Next Page »
