MB (myoglobin)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 4151
• Gene name: Myoglobin
• Gene symbol: MB
• Synonyms (NCBI Gene): MYOSB, PVALB
• Chromosome: 22
• Chromosome location: 22q12.3
• Summary: 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 oxyg

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1601842249	G>A	Pathogenic	Missense variant, coding sequence variant

miRNA Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029607	hsa-miR-26b-5p	Microarray	19088304
MIRT1134772	hsa-miR-1290	CLIP-seq
MIRT1134773	hsa-miR-3167	CLIP-seq
MIRT1134774	hsa-miR-3170	CLIP-seq
MIRT1134775	hsa-miR-3185	CLIP-seq
MIRT1134776	hsa-miR-3689d	CLIP-seq
MIRT1134777	hsa-miR-4260	CLIP-seq
MIRT1134778	hsa-miR-4443	CLIP-seq
MIRT1134779	hsa-miR-4676-5p	CLIP-seq
MIRT1134780	hsa-miR-575	CLIP-seq
MIRT1134781	hsa-miR-7	CLIP-seq
MIRT1134782	hsa-miR-876-5p	CLIP-seq
MIRT1134783	hsa-miR-1224-3p	CLIP-seq
MIRT1134784	hsa-miR-1976	CLIP-seq
MIRT1134785	hsa-miR-330-3p	CLIP-seq
MIRT1134786	hsa-miR-4722-3p	CLIP-seq
MIRT1134774	hsa-miR-3170	CLIP-seq
MIRT1134777	hsa-miR-4260	CLIP-seq
MIRT2038340	hsa-miR-4300	CLIP-seq
MIRT2038341	hsa-miR-4651	CLIP-seq
MIRT2038342	hsa-miR-608	CLIP-seq
MIRT2038343	hsa-miR-920	CLIP-seq
MIRT1134783	hsa-miR-1224-3p	CLIP-seq
MIRT2268192	hsa-miR-128	CLIP-seq
MIRT2268193	hsa-miR-135a	CLIP-seq
MIRT2268194	hsa-miR-135b	CLIP-seq
MIRT1134784	hsa-miR-1976	CLIP-seq
MIRT2268195	hsa-miR-3150b-3p	CLIP-seq
MIRT2268196	hsa-miR-3180-5p	CLIP-seq
MIRT2268197	hsa-miR-3612	CLIP-seq
MIRT2268198	hsa-miR-3913-3p	CLIP-seq
MIRT2268199	hsa-miR-421	CLIP-seq
MIRT2268200	hsa-miR-4268	CLIP-seq
MIRT2268201	hsa-miR-4317	CLIP-seq
MIRT2268202	hsa-miR-4323	CLIP-seq
MIRT2268203	hsa-miR-4640-5p	CLIP-seq
MIRT2268204	hsa-miR-4689	CLIP-seq
MIRT2268205	hsa-miR-4695-5p	CLIP-seq
MIRT1134786	hsa-miR-4722-3p	CLIP-seq
MIRT2268206	hsa-miR-4726-5p	CLIP-seq
MIRT2268207	hsa-miR-4731-3p	CLIP-seq
MIRT2268208	hsa-miR-4749-3p	CLIP-seq
MIRT2268209	hsa-miR-4769-3p	CLIP-seq
MIRT2268210	hsa-miR-4784	CLIP-seq
MIRT2268211	hsa-miR-4801	CLIP-seq
MIRT2268212	hsa-miR-489	CLIP-seq
MIRT2268213	hsa-miR-520a-5p	CLIP-seq
MIRT2268214	hsa-miR-525-5p	CLIP-seq
MIRT2268215	hsa-miR-544b	CLIP-seq
MIRT2268216	hsa-miR-618	CLIP-seq
MIRT2268217	hsa-miR-626	CLIP-seq
MIRT2268218	hsa-miR-650	CLIP-seq

Gene ontology (GO) Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0004601	Function	Peroxidase activity	IDA	34679218
GO:0005344	Function	Oxygen carrier activity	IBA
GO:0005344	Function	Oxygen carrier activity	IEA
GO:0005344	Function	Oxygen carrier activity	IMP	30918256, 34679218
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007507	Process	Heart development	IEA
GO:0015671	Process	Oxygen transport	IBA
GO:0015671	Process	Oxygen transport	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016528	Component	Sarcoplasm	IBA
GO:0016528	Component	Sarcoplasm	IDA	30918256
GO:0016528	Component	Sarcoplasm	IEA
GO:0019430	Process	Removal of superoxide radicals	IBA
GO:0019430	Process	Removal of superoxide radicals	IDA	34679218
GO:0019825	Function	Oxygen binding	IEA
GO:0020037	Function	Heme binding	IEA
GO:0043353	Process	Enucleate erythrocyte differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050873	Process	Brown fat cell differentiation	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098809	Function	Nitrite reductase activity	IBA
GO:0098809	Function	Nitrite reductase activity	IDA	32891753

Other IDs

• MIM: 160000
• HGNC: 6915
• e!Ensembl: ENSG00000198125

Protein

• UniProt ID: P02144
• Protein name: Myoglobin (Nitrite reductase MB) (EC 1.7.-.-) (Pseudoperoxidase MB) (EC 1.11.1.-)
• Protein function: Monomeric heme protein which primary function is to store oxygen and facilitate its diffusion within muscle tissues. Reversibly binds oxygen through a pentacoordinated heme iron and enables its timely and efficient release as needed during perio
• PDB: 3RGK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00042	Globin	7 → 113	Globin	Domain

• Sequence:

  MGLSDGEWQLVLNVWGKVEADIPGHGQEVLIRLFKGHPETLEKFDKFKHLKSEDEMKASE
  DLKKHGATVLTALGGILKKKGHHEAEIKPLAQSHATKHKIPVKYLEFISECIIQVLQSKH
  PGDFGADAQGAMNKALELFRKDMASNYKELGFQG

• Sequence length: 154

Pathways

Reactome Pathway:

Intracellular oxygen transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Colorectal carcinoma	Likely pathogenic; Pathogenic	rs1601842249	RCV005861167	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, sarcoplasmic body	Likely pathogenic; Pathogenic	rs1601842249	RCV003153827	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Associations from Text Mining Show/Hide Text Mining Associations (91)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	28939707		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	23064728, 24946698, 30056625		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21640426		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21640426		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	30053824		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	8007996		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	7374673		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	29405672		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20531416, 20958924, 21930697, 24026678, 26559958, 30872402		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20531416, 21930697, 25172328, 26559958, 31894249, 34671319, 36232784	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39368517	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19348046, 31894249, 36232784	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19541931		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	19541931	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	36232784	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	36232784	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21640426, 25573098		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25216451		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37406498	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37708555	Stimulate	★☆☆☆☆ Found in Text Mining only
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyl transferase deficiency	BEFREE	15754283		★☆☆☆☆ Found in Text Mining only
Carnitine Palmitoyltransferase II Deficiency Infantile	Carnitine palmitoyltransferase deficiency	Pubtator	36473042	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29247869		★☆☆☆☆ Found in Text Mining only
Compartment syndromes	Anterior Compartment Syndrome	BEFREE	28631073, 29290012, 30611244		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29143665, 30985109, 31505423		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24076247		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28337600		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	30053824		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31805809		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29290012, 31805809		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31349019		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	31805809	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31805809		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	23064728		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31638164	Associate	★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	BEFREE	3976355		★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	27587605		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	21726969		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	29560763		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	29560763		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type V	Glycogen Storage Disease	BEFREE	29560763		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	3499269	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	9143922		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29143665, 30985109, 31505423		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	19541931	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	31578564		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19541931, 21930697	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25172328	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	17942367		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17178004	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29289268, 29290012, 29309057, 29560763, 29679711, 30056625, 30119084, 30173201, 31364379		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20531416, 20958924, 21930697, 24026678, 26559958, 30872402		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21640426, 25573098, 28629523		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26559958		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19541931, 20531416, 21640426, 21930697, 24026678, 26559958		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	24026678, 26559958		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28540796		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	1688296, 2393856, 2892198, 8242588		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	2892198	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	LHGDN	14506721		★☆☆☆☆ Found in Text Mining only
Mitochondrial DNA Depletion Syndrome Myopathic Form	Mitochondrial dna depletion syndrome	Pubtator	36473042	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	27936623, 30722885		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27936623, 30722885		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	6686846, 7276986, 7374673		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	29776718	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29776718, 3720800, 6465202, 6707690, 6890096, 7374673, 7416442, 8007996		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	12745799, 12760310, 15226628		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27124025, 28281270, 28337600, 28363495, 28497398, 29563532, 29908956, 30989406		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	34685725, 37708555	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28337600		★☆☆☆☆ Found in Text Mining only
Myocardial necrosis	Myocardial necrosis	BEFREE	29908956		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31105785		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	20675543, 7276986		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12640103, 1384671, 1688296, 19307731, 19348046, 19541931, 20531416, 20958924, 21930697, 24026678, 24076247, 26559958, 30872402		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22412990		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	8007996		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21640426		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	26891180, 30053824, 8007996		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26559958		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25172328	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24076247		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29309057		★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	36473042	Stimulate	★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	36473042	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	2323848		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	35909965	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29405672, 31364379		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	16319659		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	18460022		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	7778671		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	27951574		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for MB.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to MB.