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This gene encodes a member of the globin superfamily and is predominantly expressed in skeletal and cardiac muscles. The encoded protein forms a monomeric globular haemoprotein that is primarily responsible for the storage and facilitated transfer of oxygen from the cell membrane to the mitochondria. This protein also plays a role in regulating physiological levels of nitric oxide. Multiple transcript variants encoding distinct isoforms exist for this gene. [provided by RefSeq, May 2020]
MB (Myoglobin) is a Protein Coding gene. Diseases associated with MB include Compartment Syndrome and Medullomyoblastoma. Among its related pathways are Effects of Nitric Oxide and Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is CYGB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005344 | oxygen carrier activity | IEA | -- |
GO:0019825 | oxygen binding | IEA,IBA | 21873635 |
GO:0020037 | heme binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 23533145 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose / Energy Metabolism | ||
2 | Effects of Nitric Oxide |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0007507 | heart development | IEA | -- |
GO:0009725 | response to hormone | IEA | -- |
GO:0015671 | oxygen transport | TAS | -- |
GO:0031444 | slow-twitch skeletal muscle fiber contraction | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Oxygen | Approved, Vet_approved | Pharma | 0 | |||
Carbon monoxide | Approved, Investigational | Pharma | Target, deoxidizer | 171 | ||
Nitrous acid | Approved, Investigational | Pharma | Target, oxidizer | 0 | ||
Imidazole | Experimental, Investigational | Pharma | Target | 66 | ||
1-Methylimidazole | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | · | 8f | · | 8g |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||
SP7: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MB 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MB 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mb 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mb 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MB 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | mb 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
617634 | Pathogenic: myoglobinopathy | 35,610,910(-) | G/A | MISSENSE_VARIANT | |
rs142225854 | - | p.Arg140Gln | |||
rs145465287 | - | p.Glu55Lys | |||
rs766095327 | - | p.Lys134Asn | |||
rs767663245 | - | p.Arg140Trp |
Disorder | Aliases | PubMed IDs |
---|---|---|
compartment syndrome |
|
|
medullomyoblastoma |
|
|
malignant triton tumor |
|
|
acute kidney tubular necrosis |
|
|
malignant mesenchymoma |
|
|