HBM (Hemoglobin Subunit Mu)
A member of the alpha-globin gene cluster with potential roles in oxygen transport and nitric oxide metabolism.
Gene Information Card
| Symbol | HBM |
|---|---|
| Full Name | Hemoglobin Subunit Mu |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 3042 ncbi.nlm.nih.gov/gene/3042 |
| Ensembl ID | ENSG00000206177 |
| UniProt ID | Q6P0A0 |
| OMIM ID | 609640 |
| HGNC ID | 4826 |
| Aliases | HBQ1, HBQ, HBQ1L, HBQ1S, mu-globin |
Description
HBM encodes the mu-globin chain, a member of the alpha-globin family. The gene is located within the alpha-globin gene cluster on chromosome 16. Mu-globin is expressed at low levels in erythroid tissues and may function in oxygen transport and nitric oxide scavenging. Its physiological role is not fully characterized, and it is considered a non-essential globin in humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alpha-thalassemia | Deletions or mutations in the alpha-globin cluster (including HBM) reduce alpha-globin chain synthesis, leading to imbalanced globin chain production and hemolytic anemia. | ClinVar, OMIM |
| Hemoglobinopathy | Structural variants in mu-globin may alter oxygen affinity or stability, though clinical significance is rare. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 0.3 | Low |
| Spleen | 0.1 | Low |
| Whole Blood | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 0.5 | Low expression; erythroid lineage |
| HEK293 | 0.0 | Not detected |
| HepG2 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.94G>A (p.Gly32Ser) | missense | <0.01% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants in HBM are rare and likely compensated by other alpha-like globins; no known disease association.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • oxygen carrier activity (GO:0005344) | • oxygen binding (GO:0019825) |
| • heme binding (GO:0020037) | • hemoglobin complex (GO:0005833) |
Pathways
• REACT_21649 – Oxygen transport
• REACT_111102 – Erythrocytes take up oxygen and release carbon dioxide
Protein Summary
Hemoglobin subunit mu (mu-globin) is a 141-amino acid protein that forms part of the hemoglobin complex. It contains a heme-binding pocket and is predicted to participate in oxygen transport. The protein is expressed at very low levels in erythroid cells and is considered a minor globin. Its exact physiological function remains unclear, and it is not essential for normal erythropoiesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HBM Knockout HEK293 Cell Line | EDJ-KQ4845 | Human | 3042 | Details Get a Quote |
| HBM Knockout HeLa Cell Line | EDJ-KQ53494 | Human | 3042 | Details Get a Quote |
| HBM Knockout A-549 Cell Line | EDJ-KQ61965 | Human | 3042 | Details Get a Quote |
| HBM Knockout HCT 116 Cell Line | EDJ-KQ70446 | Human | 3042 | Details Get a Quote |
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