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MB (myoglobin)

Identity

Alias_symbol (synonym)PVALB
Other aliasmyoglobgin
HGNC (Hugo) MB
LocusID (NCBI) 4151
Atlas_Id 51046
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 36002811 and ends at 36013384 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP6V0A1 (17q21.2) / MB (22q12.3)HAUS3 (4p16.3) / MB (22q12.3)KIF1C (17p13.2) / MB (22q12.3)
MB (22q12.3) / PSRC1 (1p13.3)ATP6V0A1 17q21.2 / MB 22q12.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Head and Neck: Thymus: Thymoma: an overview


External links

Nomenclature
HGNC (Hugo)MB   6915
Cards
Entrez_Gene (NCBI)MB  4151  myoglobin
AliasesPVALB; myoglobgin
GeneCards (Weizmann)MB
Ensembl hg19 (Hinxton)ENSG00000198125 [Gene_View]  chr22:36002811-36013384 [Contig_View]  MB [Vega]
Ensembl hg38 (Hinxton)ENSG00000198125 [Gene_View]  chr22:36002811-36013384 [Contig_View]  MB [Vega]
ICGC DataPortalENSG00000198125
TCGA cBioPortalMB
AceView (NCBI)MB
Genatlas (Paris)MB
WikiGenes4151
SOURCE (Princeton)MB
Genetics Home Reference (NIH)MB
Genomic and cartography
GoldenPath hg19 (UCSC)MB  -     chr22:36002811-36013384 -  22q12.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MB  -     22q12.3   [Description]    (hg38-Dec_2013)
EnsemblMB - 22q12.3 [CytoView hg19]  MB - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBIMB [Mapview hg19]  MB [Mapview hg38]
OMIM160000   
Gene and transcription
Genbank (Entrez)AK300657 AK314057 BC014547 BC018001 BQ925917
RefSeq transcript (Entrez)NM_005368 NM_203377 NM_203378
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_007075 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)MB
Cluster EST : UnigeneHs.517586 [ NCBI ]
CGAP (NCI)Hs.517586
Alternative Splicing GalleryENSG00000198125
Gene ExpressionMB [ NCBI-GEO ]   MB [ EBI - ARRAY_EXPRESS ]   MB [ SEEK ]   MB [ MEM ]
Gene Expression Viewer (FireBrowse)MB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4151
GTEX Portal (Tissue expression)MB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02144   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02144  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02144
Splice isoforms : SwissVarP02144
PhosPhoSitePlusP02144
Domaine pattern : Prosite (Expaxy)GLOBIN (PS01033)   
Domains : Interpro (EBI)Globin    Globin-like    Globin/Proto    Myoglobin   
Domain families : Pfam (Sanger)Globin (PF00042)   
Domain families : Pfam (NCBI)pfam00042   
Conserved Domain (NCBI)MB
DMDM Disease mutations4151
Blocks (Seattle)MB
PDB (SRS)3RGK   
PDB (PDBSum)3RGK   
PDB (IMB)3RGK   
PDB (RSDB)3RGK   
Structural Biology KnowledgeBase3RGK   
SCOP (Structural Classification of Proteins)3RGK   
CATH (Classification of proteins structures)3RGK   
SuperfamilyP02144
Human Protein AtlasENSG00000198125
Peptide AtlasP02144
HPRD01170
IPIIPI00217493   IPI00879081   IPI01010260   IPI00878623   IPI00878918   IPI00879863   IPI00879413   
Protein Interaction databases
DIP (DOE-UCLA)P02144
IntAct (EBI)P02144
FunCoupENSG00000198125
BioGRIDMB
STRING (EMBL)MB
ZODIACMB
Ontologies - Pathways
QuickGOP02144
Ontology : AmiGOresponse to hypoxia  oxygen transporter activity  heart development  response to hormone  oxygen transport  oxygen binding  heme binding  slow-twitch skeletal muscle fiber contraction  response to hydrogen peroxide  enucleate erythrocyte differentiation  metal ion binding  brown fat cell differentiation  extracellular exosome  
Ontology : EGO-EBIresponse to hypoxia  oxygen transporter activity  heart development  response to hormone  oxygen transport  oxygen binding  heme binding  slow-twitch skeletal muscle fiber contraction  response to hydrogen peroxide  enucleate erythrocyte differentiation  metal ion binding  brown fat cell differentiation  extracellular exosome  
NDEx NetworkMB
Atlas of Cancer Signalling NetworkMB
Wikipedia pathwaysMB
Orthology - Evolution
OrthoDB4151
GeneTree (enSembl)ENSG00000198125
Phylogenetic Trees/Animal Genes : TreeFamMB
HOVERGENP02144
HOGENOMP02144
Homologs : HomoloGeneMB
Homology/Alignments : Family Browser (UCSC)MB
Gene fusions - Rearrangements
Fusion : MitelmanATP6V0A1/MB [17q21.2/22q12.3]  [t(17;22)(q21;q12)]  
Fusion: TCGAATP6V0A1 17q21.2 MB 22q12.3 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MB
dbVarMB
ClinVarMB
1000_GenomesMB 
Exome Variant ServerMB
ExAC (Exome Aggregation Consortium)MB (select the gene name)
Genetic variants : HAPMAP4151
Genomic Variants (DGV)MB [DGVbeta]
DECIPHER (Syndromes)22:36002811-36013384  ENSG00000198125
CONAN: Copy Number AnalysisMB 
Mutations
ICGC Data PortalMB 
TCGA Data PortalMB 
Broad Tumor PortalMB
OASIS PortalMB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MB
DgiDB (Drug Gene Interaction Database)MB
DoCM (Curated mutations)MB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MB (select a term)
intoGenMB
Cancer3DMB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160000   
Orphanet
MedgenMB
Genetic Testing Registry MB
NextProtP02144 [Medical]
TSGene4151
GENETestsMB
Huge Navigator MB [HugePedia]
snp3D : Map Gene to Disease4151
BioCentury BCIQMB
ClinGenMB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4151
Chemical/Pharm GKB GenePA30658
Clinical trialMB
Miscellaneous
canSAR (ICR)MB (select the gene name)
Probes
Litterature
PubMed67 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMB
EVEXMB
GoPubMedMB
iHOPMB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:08:41 CEST 2017

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