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
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
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
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)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
ModBase Predicted Comparative 3D Structure on P02144
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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
Other Names for This Gene
Alternate Gene Symbols: MYG_HUMAN, NM_203377, NP_976312, P02144, Q52H51, Q5THY7UCSC ID: uc003aob.3RefSeq 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:
4 CDS single in 3' UTR:
no
RNA size:
1170
ORF size:
465 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
1028.00 frame 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
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.