MB Gene (Protein Coding)

Myoglobin

GC22M035606
GIFtS:
45
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] See more...

Aliases for MB Gene

Aliases for MB Gene

  • Myoglobin 2 3 4 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 Medullomyoblastoma. Among its related pathways are Glucose / Energy Metabolism and Effects of Nitric Oxide. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is CYGB.

UniProtKB/Swiss-Prot Summary for MB Gene

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

Gene Wiki entry for MB Gene

Additional gene information for MB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MB Gene

Genomics for MB Gene

GeneHancer (GH) Regulatory Elements for MB Gene

Promoters and enhancers for MB Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J035614 Promoter/Enhancer 1.3 EPDnew Ensembl dbSUPER 750.3 +22.0 21950 2.8 L3MBTL2 TRIM24 CEBPB ZBTB48 CTBP1 ZBTB26 NR2C2 BCOR CEBPG ZNF335 MB APOL6 ENSG00000268818 HSALNG0135169
GH22J035637 Enhancer 1 Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 -0.1 -52 2.4 POLR2A SP1 ZKSCAN1 RCOR1 NR2F2 RAD21 REST LOC284912 MB APOL6
GH22J035639 Enhancer 0.3 dbSUPER 750.6 -1.7 -1684 0.3 ATF2 LOC284912 MB APOL6
GH22J035834 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -199.6 -199575 7.9 ZNF785 CTCF POLR2A CTBP1 CREB1 ZNF362 ZNF701 HLF RAD21 SP1 RBFOX2 RPL41P3 piR-35054-006 HMGXB4 IFT27 EIF3D MCM5 APOL6 MB RPS15AP38
GH22J036065 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 9.7 -428.0 -427955 1.9 ZNF785 CTCF ZBTB6 FOXA1 POLR2A USF2 MYC ELF1 L3MBTL2 MAX ENSG00000279927 HMGXB4 RBFOX2 APOL3 MB piR-31937-127
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MB gene promoter:
  • AP-1
  • MyoD

Genomic Locations for MB Gene

Genomic Locations for MB Gene
chr22:35,606,764-35,637,951
(GRCh38/hg38)
Size:
31,188 bases
Orientation:
Minus strand
chr22:36,002,811-36,033,998
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for MB Gene

Proteins for MB Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for MB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Invitrogen Antibodies for MB (AFLGC-MB)

No data available for DME Specific Peptides for MB Gene

Domains & Families for MB Gene

Gene Families for MB Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for MB Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MB Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55163, highly similar to Myoglobin (B4DUI1_HUMAN)
  • Myoglobin (MYG_HUMAN)

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

Function for MB Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MB Gene

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

Phenotypes From GWAS Catalog for MB Gene

Gene Ontology (GO) - Molecular Function for MB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen carrier 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 Mb<tm1Jsc>
  • Mb Mb<tm1Wlm>

Animal Model Products

CRISPR Products

miRNA for MB Gene

miRTarBase miRNAs that target MB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MB

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
cytosol 5
cytoskeleton 3
mitochondrion 3
extracellular 2
nucleus 2
plasma membrane 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with MB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for MB Gene

Pathways & Interactions for MB Gene

PathCards logo

SuperPathways for MB Gene

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

Pathways by source for MB Gene

1 BioSystems pathway for MB Gene
1 Cell Signaling Technology 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:0007507 heart development IEA --
GO:0009725 response to hormone IEA --
GO:0015671 oxygen transport TAS --
GO:0031444 slow-twitch skeletal muscle fiber contraction 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

Products:

  1. Drug

(82) 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
Carbon monoxide Approved, Investigational Pharma Target, deoxidizer 158
Nitrous acid Approved, Investigational Pharma Target, oxidizer 0
Imidazole Experimental, Investigational Pharma Target 63
1-Methylimidazole Experimental Pharma Target 0

(56) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MB Gene

(4) REFSEQ mRNAs :
(25) Additional mRNA sequences :
(801) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MB

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for MB Gene
mRNA expression by GTEx for MB GenemRNA expression by BioGPS 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, 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)
  • Kidney(2.6)
  • Urine(2.6)
  • Lung(2.3)
  • Liver(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 33 32
  • 98.92 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MB 33 32
  • 88.53 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MB 33 32
  • 86.15 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MB 33
  • 84 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Mb 32
  • 83.98 (n)
mouse
(Mus musculus)
 Mammalia Mb 17 33 32
  • 83.77 (n)
chicken
(Gallus gallus)
 Aves MB 33 32
  • 74.24 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MB 33
  • 71 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii mb 33 32
  • 54.55 (n)
 OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for MB: view image

Paralogs for MB Gene

Paralogs for MB Gene

(5) SIMAP similar genes for MB Gene using alignment to 10 proteins:

  • MYG_HUMAN
  • B0QYF7_HUMAN
  • B0QYF8_HUMAN
  • F2Z2F1_HUMAN
  • F2Z337_HUMAN
  • Q8WVH6_HUMAN
  • U6FIU7_HUMAN
  • U6FIV2_HUMAN
  • U6FJG6_HUMAN
  • U6FM64_HUMAN
genes like me logo Genes that share paralogs with MB: view

Variants for MB Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MB Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000131819 -- 35,618,067(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000485972 -- 35,617,823(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000561591 -- 35,622,427(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000573299 -- 35,611,280(-) C/A intron_variant
rs1000633691 -- 35,622,123(-) A/T genic_upstream_transcript_variant, 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)

Additional Variant Information for MB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MB Gene

MalaCards: The human disease database

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

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

Additional Disease Information for MB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … O'Brien KP (Nature 1999) 2 3 4 56
  2. Cloning of the human myoglobin gene. (PMID: 2989088) Akaboshi E (Gene 1985) 2 3 4 56
  3. Expression and functional regulation of myoglobin in epithelial cancers. (PMID: 19541931) Flonta SE … Bardelli A (The American journal of pathology 2009) 3 23 56
  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 23 56
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56

ExternalLinks

View latest publications for MB gene in Mastermind

Products for MB Gene

  • Invitrogen Antibodies for MB (AFLGC-MB)

Sources for MB Gene