Human Gene MB (uc003aob.3)
  Description: Homo sapiens myoglobin (MB), transcript variant 2, mRNA.
RefSeq Summary (NM_203377): 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].
Transcript (Including UTRs)
   Position: hg19 chr22:36,002,811-36,019,401 Size: 16,591 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr22:36,003,344-36,013,304 Size: 9,961 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:36,002,811-36,019,401)mRNA (may differ from genome)Protein (154 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYG_HUMAN
DESCRIPTION: RecName: Full=Myoglobin;
FUNCTION: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
SIMILARITY: Belongs to the globin family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mb/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MB
CDC HuGE Published Literature: MB

-  MalaCards Disease Associations
  MalaCards Gene Search: MB
Diseases sorted by gene-association score: compartment syndrome (30), acute myocardial infarction (27), medullomyoblastoma (24), malignant triton tumor (24), myxosarcoma (23), malignant mesenchymoma (23), mesenchymoma (23), myofibroma (22), acute kidney tubular necrosis (21), alveolar soft-part sarcoma (19), pleomorphic rhabdomyosarcoma (18), botryoid rhabdomyosarcoma (17), lung leiomyoma (17), spindle cell rhabdomyosarcoma (17), orbit embryonal rhabdomyosarcoma (15), immune system organ benign neoplasm (15), thymus lipoma (15), orbit rhabdomyosarcoma (15), neuroleptic malignant syndrome (15), embryonal rhabdomyosarcoma (15), breast rhabdomyosarcoma (15), neuronitis (15), granular cell leiomyosarcoma (15), virus associated hemophagocytic syndrome (13), giant cell myocarditis (13), skeletal muscle cancer (11), acute mountain sickness (11), proliferative fasciitis (10), bilateral retinoblastoma (10), angiomyoma (10), metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (10), leiomyosarcoma (10), rhabdomyosarcoma (10), malignant hyperthermia (10), meninges sarcoma (10), disseminated intravascular coagulation (10), acute kidney failure (10), anuria (9), myoglobinuria (9), adenosarcoma (9), mixed cell type cancer (9), myositis (9), corneal dystrophy, subepithelial mucinous (9), rhabdomyosarcoma 2, alveolar (9), pleuropulmonary blastoma (9), kidney rhabdoid cancer (9), mesenteric vascular occlusion (8), histiocytoma (8), infantile myofibromatosis (8), sarcomatoid squamous cell skin carcinoma (8), subendocardial myocardial infarction (8), malignant fibroxanthoma (8), interstitial myocarditis (8), mixed liposarcoma (7), duchenne muscular dystrophy (7), intermediate coronary syndrome (7), posterior myocardial infarction (7), liposarcoma (7), myocardial infarction (7), epithelioid sarcoma (7), polymyositis (7), creatine phosphokinase, elevated serum (7), neonatal myasthenia gravis (6), muscle cancer (6), myocarditis (6), progressive muscular dystrophy (6), plasmodium falciparum malaria (6), hemoglobinuria (6), iron deficiency anemia (6), sclerosing liposarcoma (6), bone fracture (6), adult fibrosarcoma (6), myositis fibrosa (6), visual agnosia (6), orbital cancer (5), plexopathy (5), spindle cell synovial sarcoma (5), glomangioma (5), cardiovascular organ benign neoplasm (5), benign perivascular tumor (5), pericardial mesothelioma (5), ischemia (5), gas gangrene (4), chromosome 18p deletion syndrome (4), pericardium cancer (4), pseudohyperkalemia, familial, 2, due to red cell leak (4), rhabdoid cancer (4), dirofilariasis (4), uterine sarcoma (3), endometrial stromal sarcoma (2), myopathy (2), mitochondrial encephalomyopathy (2), dilated cardiomyopathy (1), muscle tissue disease (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3785.34 RPKM in Muscle - Skeletal
Total median expression: 9376.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.90172-0.308 Picture PostScript Text
3' UTR -185.36533-0.348 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000971 - Globin
IPR009050 - Globin-like
IPR012292 - Globin_dom
IPR002335 - Myoglobin

Pfam Domains:
PF00042 - Globin

SCOP Domains:
46458 - Globin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3RGK - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P02144
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005344 oxygen transporter activity
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0046872 metal ion binding

Biological Process:
GO:0001666 response to hypoxia
GO:0007507 heart development
GO:0009725 response to hormone
GO:0015671 oxygen transport
GO:0031444 slow-twitch skeletal muscle fiber contraction
GO:0042542 response to hydrogen peroxide
GO:0043353 enucleate erythrocyte differentiation
GO:0050873 brown fat cell differentiation

Cellular Component:
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LP886324 - Sequence 216 from Patent WO2017201352.
LP978081 - Sequence 216 from Patent WO2017120612.
BC014547 - Homo sapiens myoglobin, mRNA (cDNA clone MGC:13548 IMAGE:4244838), complete cds.
BC018001 - Homo sapiens myoglobin, mRNA (cDNA clone MGC:24681 IMAGE:4271145), complete cds.
AK300657 - Homo sapiens cDNA FLJ55163 complete cds, highly similar to Myoglobin.
JD278530 - Sequence 259554 from Patent EP1572962.
JD519947 - Sequence 500971 from Patent EP1572962.
CR456516 - Homo sapiens MB full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.MB).
JD345460 - Sequence 326484 from Patent EP1572962.
JD115835 - Sequence 96859 from Patent EP1572962.
DQ893679 - Synthetic construct clone IMAGE:100006309; FLH189879.01X; RZPDo839C0275D myoglobin (MB) gene, encodes complete protein.
DQ896050 - Synthetic construct Homo sapiens clone IMAGE:100010510; FLH189875.01L; RZPDo839C0265D myoglobin (MB) gene, encodes complete protein.
CU013116 - Homo sapiens MB, mRNA (cDNA clone IMAGE:100000373), complete cds, with stop codon, in Gateway system.
AK314057 - Homo sapiens cDNA, FLJ94722, highly similar to Homo sapiens myoglobin (MB), mRNA.
KJ897171 - Synthetic construct Homo sapiens clone ccsbBroadEn_06565 MB gene, encodes complete protein.
CR541949 - Homo sapiens full open reading frame cDNA clone RZPDo834C1234D for gene MB, myoglobin; complete cds, without stopcodon.
CU013404 - Homo sapiens MB, mRNA (cDNA clone IMAGE:100000277), complete cds, without stop codon, in Gateway system.
AB528844 - Synthetic construct DNA, clone: pF1KE0530, Homo sapiens MB gene for myoglobin, without stop codon, in Flexi system.
HG531368 - Homo sapiens mRNA for mRNA myoglobin (MB gene), cell-line MDA-MB468 breast cancer, coding variant 9.
HG531369 - Homo sapiens mRNA for mRNA myoglobin (MB gene), cell-line MDA-MB468 breast cancer, coding variant 10.
HG531366 - Homo sapiens mRNA for mRNA myoglobin (MB gene), cell-line MDA-MB468 breast cancer, coding variant 2.
HG531372 - Homo sapiens mRNA for mRNA myoglobin (MB gene), cell-line MDA-MB468 breast cancer, coding variant 13.
HG531373 - Homo sapiens partial mRNA for myoglobin (MB gene), cell-line MDA-MB468 breast cancer, non-coding variant 15.
HG531379 - Homo sapiens mRNA for mRNA myoglobin (MB gene), cell-line DLD-1 colon cancer, coding variant 13.
HG531380 - Homo sapiens partial mRNA for myoglobin (MB gene), cell-line DLD-1 colon cancer, non-coding variant 15.
HG531378 - Homo sapiens partial mRNA for myoglobin (MB gene), cell-line DLD-1 colon cancer, non-coding variant 12.
HG531377 - Homo sapiens partial mRNA for myoglobin (MB gene), cell-line DLD-1 colon cancer, non-coding variant 3.
HG531371 - Homo sapiens partial mRNA for myoglobin (MB gene), cell-line MDA-MB468 breast cancer, non-coding variant 12.
HG531375 - Homo sapiens mRNA for mRNA myoglobin (MB gene), cell-line MDA-MB468 breast cancer, coding variant 19.
HG531367 - Homo sapiens partial mRNA for myoglobin (MB gene), cell-line MDA-MB468 breast cancer, non-coding variant 3.
HG531370 - Homo sapiens mRNA for mRNA myoglobin (MB gene), cell-line MDA-MB468 breast cancer, coding variant 11.
HG531374 - Homo sapiens mRNA for mRNA myoglobin (MB gene), cell-line MDA-MB468 breast cancer, coding variant 17.
JD287659 - Sequence 268683 from Patent EP1572962.
HG531382 - Homo sapiens partial mRNA for myoglobin (MB gene), cell-line MDA-MB468 breast cancer, non-coding variant exon 4u, 5'RLM-RACE.
HG531383 - Homo sapiens partial mRNA for myoglobin (MB gene), cell-line MDA-MB468 breast cancer, non-coding variant exon 4u, 5'RACE.
MB419103 - JP 2019519516-A/65: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER.
MB419968 - JP 2019519516-A/930: MRNA COMBINATION THERAPIES FOR THE TREATMENT OF CANCER.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P02144 (Reactome details) participates in the following event(s):

R-HSA-8981606 Myoglobin binds oxygen
R-HSA-8981622 Myoglobin:oxygen dissociates
R-HSA-8981607 Intracellular oxygen transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: MYG_HUMAN, NM_203377, NP_976312, P02144, Q52H51, Q5THY7
UCSC ID: uc003aob.3
RefSeq Accession: NM_203377
Protein: P02144 (aka MYG_HUMAN)
CCDS: CCDS13917.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_203377.1
exon count: 4CDS single in 3' UTR: no RNA size: 1170
ORF size: 465CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1028.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.