MB Gene (Myoglobin)
Oxygen-binding protein in cardiac and skeletal muscle
Gene Information Card
| Symbol | MB |
|---|---|
| Full Name | Myoglobin |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 4151 ncbi.nlm.nih.gov/gene/4151 |
| Ensembl ID | ENSG00000198125 |
| UniProt ID | P02144 |
| OMIM ID | 160000 |
| HGNC ID | 6915 |
| Aliases | PVALB, MGC13548 |
Description
The MB gene encodes myoglobin, a cytoplasmic hemoprotein expressed primarily in cardiac and skeletal muscle. Myoglobin reversibly binds oxygen, facilitating oxygen storage and diffusion within muscle cells, and plays a role in nitric oxide scavenging and mitochondrial respiration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myoglobinuria | Rhabdomyolysis leads to myoglobin release into bloodstream, causing acute kidney injury | ClinVar, OMIM |
| Cardiomyopathy | Altered myoglobin expression or function may impair oxygen delivery in heart failure | NCBI, PubMed |
| Muscle ischemia | Reduced myoglobin levels exacerbate tissue hypoxia during ischemia | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 124.2 | High |
| Skeletal muscle | 98.7 | High |
| Smooth muscle | 0.5 | Low |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 124.2 | High expression |
| Skeletal muscle myotubes | 98.7 | High expression |
| HeLa | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.79G>A (p.Gly27Arg) | Missense | <0.01% | Reduced oxygen affinity |
| c.106C>T (p.Arg36Cys) | Missense | <0.01% | Impaired heme binding |
| c.434A>G (p.Lys145Arg) | Missense | <0.01% | Altered stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reducing oxygen binding or protein stability
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • oxygen carrier activity (GO:0005344) | • oxygen binding (GO:0019825) |
| • nitric oxide binding (GO:0031402) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Oxygen transport (Reactome: R-HSA-1483248)
• Nitric oxide metabolism (Reactome: R-HSA-202131)
Protein Summary
Myoglobin is a 154-amino acid monomeric globin protein with a heme prosthetic group. It adopts a typical globin fold with eight alpha-helices. The protein binds oxygen with high affinity and facilitates oxygen diffusion in muscle. Post-translational modifications include heme coordination and nitric oxide binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMB1 Knockout HEK293 Cell Line | EDJ-KQ258 | Human | 3912 | Details Get a Quote |
| BAMBI Knockout HEK293 Cell Line | EDJ-KQ366 | Human | 25805 | Details Get a Quote |
| NUMB Knockout HEK293 Cell Line | EDJ-KQ440 | Human | 8650 | Details Get a Quote |
| NUMBL Knockout HEK293 Cell Line | EDJ-KQ441 | Human | 9253 | Details Get a Quote |
| LAMB2 Knockout HEK293 Cell Line | EDJ-KQ827 | Human | 3913 | Details Get a Quote |
| LAMB3 Knockout HEK293 Cell Line | EDJ-KQ828 | Human | 3914 | Details Get a Quote |
| LAMB4 Knockout HEK293 Cell Line | EDJ-KQ829 | Human | 22798 | Details Get a Quote |
| MBTPS1 Knockout HEK293 Cell Line | EDJ-KQ1067 | Human | 8720 | Details Get a Quote |
| L3MBTL3 Knockout HEK293 Cell Line | EDJ-KQ1076 | Human | 84456 | Details Get a Quote |
| KCNMB1 Knockout HEK293 Cell Line | EDJ-KQ1844 | Human | 3779 | Details Get a Quote |
| KCNMB3 Knockout HEK293 Cell Line | EDJ-KQ1845 | Human | 27094 | Details Get a Quote |
| KCNMB4 Knockout HEK293 Cell Line | EDJ-KQ1846 | Human | 27345 | Details Get a Quote |
| PSMB10 Knockout HEK293 Cell Line | EDJ-KQ1927 | Human | 5699 | Details Get a Quote |
| NMB Knockout HEK293 Cell Line | EDJ-KQ2057 | Human | 4828 | Details Get a Quote |
| MBD2 Knockout HEK293 Cell Line | EDJ-KQ2162 | Human | 8932 | Details Get a Quote |
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