MB myoglobin [Homo sapiens (human)] - Gene

Summary

Official Symbol: MBprovided by HGNC
Official Full Name: myoglobinprovided by HGNC
Primary source: HGNC:HGNC:6915
See related: Ensembl:ENSG00000198125 MIM:160000; AllianceGenome:HGNC:6915
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MYOSB; PVALB
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 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]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
Expression: Restricted expression toward heart (RPKM 2708.0) See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (35606764..35623354, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (36065732..36082323, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (36002811..36019401, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myoglobin in Brown Adipose Tissue: A Multifaceted Player in Thermogenesis.
Title: Myoglobin in Brown Adipose Tissue: A Multifaceted Player in Thermogenesis.
Comparative analysis of the myoglobin gene in whales and humans reveals evolutionary changes in regulatory elements and expression levels.
Title: Comparative analysis of the myoglobin gene in whales and humans reveals evolutionary changes in regulatory elements and expression levels.
Pseudoperoxidase activity, conformational stability, and aggregation propensity of the His98Tyr myoglobin variant: implications for the onset of myoglobinopathy.
Title: Pseudoperoxidase activity, conformational stability, and aggregation propensity of the His98Tyr myoglobin variant: implications for the onset of myoglobinopathy.
Myoglobin Protects Breast Cancer Cells Due to Its ROS and NO Scavenging Properties.
Title: Myoglobin Protects Breast Cancer Cells Due to Its ROS and NO Scavenging Properties.
GAPDH is involved in the heme-maturation of myoglobin and hemoglobin.
Title: GAPDH is involved in the heme-maturation of myoglobin and hemoglobin.
Protective Potential of Uric Acid, Folic Acid, Glutathione and Ascorbic Acid Against the Formation of Toxic Met-Myoglobin.
Title: Protective Potential of Uric Acid, Folic Acid, Glutathione and Ascorbic Acid Against the Formation of Toxic Met-Myoglobin.
Molecular Dynamics Simulation and Kinetic Study of Fluoride Binding to V21C/V66C Myoglobin with a Cytoglobin-like Disulfide Bond.
Title: Molecular Dynamics Simulation and Kinetic Study of Fluoride Binding to V21C/V66C Myoglobin with a Cytoglobin-like Disulfide Bond.
Myoglobin for Detection of High-Risk Patients with Acute Myocarditis.
Title: Myoglobin for Detection of High-Risk Patients with Acute Myocarditis.
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
Title: The role of myoglobin in epithelial cancers: Insights from transcriptomics.
Despite the structural similarity of myoglobin to alpha and beta subunits of hemoglobin, there is a functional difference between the two proteins, owing to the quaternary structure of hemoglobin. The effect of the quaternary structure of hemoglobin on the intrinsic dynamics of its subunits is explored by dynamical comparison of the two proteins.
Title: Dynamical comparison between myoglobin and hemoglobin.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Myopathy, sarcoplasmic body MedGen: C5830362 OMIM: 620286 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D22S978E (e-PCR)
- UniSTS:86546

MB (e-PCR)
- UniSTS:253987

D22S1549 (e-PCR)
- UniSTS:55851

RH70805 (e-PCR)
- UniSTS:68252

RH27830 (e-PCR)
- UniSTS:86179

GDB:270294 (e-PCR)
- UniSTS:156349

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heme binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nitrite reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables oxygen binding	IBA Inferred from Biological aspect of Ancestor more info
enables oxygen carrier activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables peroxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brown fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in enucleate erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in oxygen transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in removal of superoxide radicals	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in sarcoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: myoglobin

Names: nitrite reductase MB; pseudoperoxidase MB

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.