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Aliases for MB Gene

Aliases for MB Gene

  • Myoglobin 2 3 3 5
  • Myoglobgin 3
  • PVALB 3

External Ids for MB Gene

Previous GeneCards Identifiers for MB Gene

  • GC22M032646
  • GC22M034274
  • GC22M034327
  • GC22M036002
  • GC22M018967

Summaries for MB Gene

Entrez Gene Summary for MB Gene

  • This gene encodes a member of the globin superfamily and is expressed in skeletal and cardiac muscles. The encoded protein is a haemoprotein contributing to intracellular oxygen storage and transcellular facilitated diffusion of oxygen. At least three alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for MB Gene

MB (Myoglobin) is a Protein Coding gene. Diseases associated with MB include Compartment Syndrome and Acute Myocardial Infarction. Among its related pathways are Effects of Nitric Oxide and Glucose / Energy Metabolism. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is CYGB.

UniProtKB/Swiss-Prot for MB Gene

  • Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.

Gene Wiki entry for MB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MB Gene

Genomics for MB Gene

Regulatory Elements for MB Gene

Enhancers for MB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G035601 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.5 +32.2 32185 7.7 ZNF133 ZSCAN4 RFX5 TCF12 ZNF121 ZNF766 RCOR1 FOS CREM EGR2 APOL6 MB RASD2 HMGXB4 TOM1 HMOX1 ENSG00000268818
GH22G035586 1.8 VISTA Ensembl ENCODE dbSUPER 11.1 +47.5 47476 7.8 PKNOX1 SIN3A FEZF1 ZNF2 ZNF121 GLIS2 FOS KLF7 ZNF263 REST HMGXB4 RASD2 MB RPS15AP38 APOL6 ENSG00000268818
GH22G035327 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +308.5 308467 4.2 ATF1 FOXA2 PKNOX1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 ZNF121 TOM1 MB APOL6 HMOX1 MIR3909 GC22P035300
GH22G035751 1.6 ENCODE 10.5 -114.7 -114715 1.4 CTCF PKNOX1 SCRT2 PRDM1 SPI1 EZH2 APOL6 MB GC22M035729 GC22M035753
GH22G035842 1.5 Ensembl ENCODE dbSUPER 10.6 -205.1 -205050 0.8 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 GLIS2 ZNF143 ZNF263 MB RBFOX2 GC22M035839 NDUFA9P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MB on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MB gene promoter:

Genomic Location for MB Gene

Chromosome:
22
Start:
35,606,764 bp from pter
End:
35,637,951 bp from pter
Size:
31,188 bases
Orientation:
Minus strand

Genomic View for MB Gene

Genes around MB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MB Gene

Proteins for MB Gene

  • Protein details for MB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02144-MYG_HUMAN
    Recommended name:
    Myoglobin
    Protein Accession:
    P02144
    Secondary Accessions:
    • Q52H51
    • Q5THY7

    Protein attributes for MB Gene

    Size:
    154 amino acids
    Molecular mass:
    17184 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MB Gene

neXtProt entry for MB Gene

Post-translational modifications for MB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MB (MB)

Assay Products

No data available for DME Specific Peptides for MB Gene

Domains & Families for MB Gene

Protein Domains for MB Gene

Suggested Antigen Peptide Sequences for MB Gene

Graphical View of Domain Structure for InterPro Entry

P02144

UniProtKB/Swiss-Prot:

MYG_HUMAN :
  • Belongs to the globin family.
Family:
  • Belongs to the globin family.
genes like me logo Genes that share domains with MB: view

No data available for Gene Families for MB Gene

Function for MB Gene

Molecular function for MB Gene

GENATLAS Biochemistry:
myoglobin,17.5kDa,muscle oxygen-carrying hemoprotein,non covalently
UniProtKB/Swiss-Prot Function:
Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.

Gene Ontology (GO) - Molecular Function for MB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen transporter activity IEA --
GO:0019825 oxygen binding IEA --
GO:0020037 heme binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MB: view
genes like me logo Genes that share phenotypes with MB: view

Animal Models for MB Gene

MGI Knock Outs for MB:
  • Mb tm1Wlm
  • Mb tm1Jsc

Animal Model Products

miRNA for MB Gene

miRTarBase miRNAs that target MB

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MB Gene

Localization for MB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MB gene
Compartment Confidence
extracellular 5
cytosol 4
cytoskeleton 3
mitochondrion 3
plasma membrane 2
nucleus 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with MB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MB Gene

Pathways & Interactions for MB Gene

genes like me logo Genes that share pathways with MB: view

Pathways by source for MB Gene

1 Cell Signaling Technology pathway for MB Gene
1 BioSystems pathway for MB Gene

Gene Ontology (GO) - Biological Process for MB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006810 transport IEA --
GO:0007507 heart development IEA --
GO:0009725 response to hormone IEA --
GO:0015671 oxygen transport IEA --
genes like me logo Genes that share ontologies with MB: view

No data available for SIGNOR curated interactions for MB Gene

Drugs & Compounds for MB Gene

(75) Drugs for MB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
1-Methylimidazole Experimental Pharma Target 0
4-Methylimidazole Experimental Pharma Target 0
Beta-D-Glucose Experimental Pharma Target 0
Biliverdine Ix Alpha Experimental Pharma Target 0

(62) Additional Compounds for MB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MB: view

Transcripts for MB Gene

Unigene Clusters for MB Gene

Myoglobin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MB Gene

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: -

Relevant External Links for MB Gene

GeneLoc Exon Structure for
MB
ECgene alternative splicing isoforms for
MB

Expression for MB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MB Gene

This gene is overexpressed in Muscle - Skeletal (x23.8), Heart - Left Ventricle (x17.4), and Heart - Atrial Appendage (x10.9).

Protein differential expression in normal tissues from HIPED for MB Gene

This gene is overexpressed in Tonsil (42.8), Heart (11.3), and Oral epithelium (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MB Gene



Protein tissue co-expression partners for MB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MB Gene:

MB

SOURCE GeneReport for Unigene cluster for MB Gene:

Hs.517586

Evidence on tissue expression from TISSUES for MB Gene

  • Heart(5)
  • Muscle(5)
  • Blood(2.8)
  • Nervous system(2.7)
  • Urine(2.6)
  • Kidney(2.5)
  • Liver(2.2)
  • Lung(2.2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with MB: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MB Gene

Orthologs for MB Gene

This gene was present in the common ancestor of chordates.

Orthologs for MB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MB 34 35
  • 98.92 (n)
dog
(Canis familiaris)
Mammalia MB 34 35
  • 88.53 (n)
cow
(Bos Taurus)
Mammalia MB 34 35
  • 86.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MB 35
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mb 34
  • 83.98 (n)
mouse
(Mus musculus)
Mammalia Mb 34 16 35
  • 83.77 (n)
chicken
(Gallus gallus)
Aves MB 34 35
  • 74.24 (n)
lizard
(Anolis carolinensis)
Reptilia MB 35
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mb 34 35
  • 54.55 (n)
Species where no ortholog for MB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MB Gene

ENSEMBL:
Gene Tree for MB (if available)
TreeFam:
Gene Tree for MB (if available)

Paralogs for MB Gene

Paralogs for MB Gene

genes like me logo Genes that share paralogs with MB: view

Variants for MB Gene

Sequence variations from dbSNP and Humsavar for MB Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000131819 -- 35,618,067(+) GCACT(C/T)ACAAG intron-variant, upstream-variant-2KB
rs1000485972 -- 35,617,823(+) GGATG(A/G)TTTTG intron-variant, upstream-variant-2KB
rs1000561591 -- 35,622,427(+) GGAAC(C/T)CACCC intron-variant
rs1000573299 -- 35,611,280(+) TTGTC(A/C)CTACT intron-variant
rs1000633691 -- 35,622,123(+) ATCAA(A/T)GATGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MB Gene

Variant ID Type Subtype PubMed ID
nsv1136673 CNV deletion 24896259
nsv510806 CNV deletion 20534489
nsv834184 CNV loss 17160897

Variation tolerance for MB Gene

Residual Variation Intolerance Score: 36.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MB Gene

Human Gene Mutation Database (HGMD)
MB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MB Gene

Disorders for MB Gene

MalaCards: The human disease database

(95) MalaCards diseases for MB Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
compartment syndrome
  • compartmental syndrome, nos
acute myocardial infarction
malignant triton tumor
  • malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma
medullomyoblastoma
malignant mesenchymoma
  • sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search MB in MalaCards View complete list of genes associated with diseases

Relevant External Links for MB

Genetic Association Database (GAD)
MB
Human Genome Epidemiology (HuGE) Navigator
MB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MB
genes like me logo Genes that share disorders with MB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MB Gene

Publications for MB Gene

  1. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 64
  2. Cloning of the human myoglobin gene. (PMID: 2989088) Akaboshi E. (Gene 1985) 2 3 4 64
  3. Expression and functional regulation of myoglobin in epithelial cancers. (PMID: 19541931) Flonta S.E. … Bardelli A. (Am. J. Pathol. 2009) 3 22 64
  4. Strong iron demand during hypoxia-induced erythropoiesis is associated with down-regulation of iron-related proteins and myoglobin in human skeletal muscle. (PMID: 17311997) Robach P. … Lundby C. (Blood 2007) 3 22 64
  5. Determination of myoglobin concentration and oxidative capacity in cryostat sections of human and rat skeletal muscle fibres and rat cardiomyocytes. (PMID: 15048578) van Beek-Harmsen B.J. … van der Laarse W.J. (Histochem. Cell Biol. 2004) 3 22 64

Products for MB Gene

Sources for MB Gene

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