Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MB (myoglobin)

Identity

Alias (NCBI)PVALB
HGNC (Hugo) MB
HGNC Alias symbPVALB
LocusID (NCBI) 4151
Atlas_Id 51046
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 35606764 and ends at 35617508 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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) [ 2 ]
  Head and Neck: Thymus: Thymoma: an overview
t(17;22)(q21;q12) ATP6V0A1/MB

External links

Nomenclature
HGNC (Hugo)MB   6915
Cards
Entrez_Gene (NCBI)MB    myoglobin
AliasesPVALB
GeneCards (Weizmann)MB
Ensembl hg19 (Hinxton)ENSG00000198125 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198125 [Gene_View]  ENSG00000198125 [Sequence]  chr22:35606764-35617508 [Contig_View]  MB [Vega]
ICGC DataPortalENSG00000198125
TCGA cBioPortalMB
AceView (NCBI)MB
Genatlas (Paris)MB
SOURCE (Princeton)MB
Genetics Home Reference (NIH)MB
Genomic and cartography
GoldenPath hg38 (UCSC)MB  -     chr22:35606764-35617508 -  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MB  -     22q12.3   [Description]    (hg19-Feb_2009)
GoldenPathMB - 22q12.3 [CytoView hg19]  MB - 22q12.3 [CytoView hg38]
ImmunoBaseENSG00000198125
genome Data Viewer NCBIMB [Mapview hg19]  
OMIM160000   
Gene and transcription
Genbank (Entrez)AK300657 AK314057 BC014547 BC018001 BQ925917
RefSeq transcript (Entrez)NM_001362846 NM_001382809 NM_001382810 NM_001382811 NM_001382812 NM_001382813 NM_005368 NM_203377 NM_203378
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MB
Alternative Splicing GalleryENSG00000198125
Gene ExpressionMB [ NCBI-GEO ]   MB [ EBI - ARRAY_EXPRESS ]   MB [ SEEK ]   MB [ MEM ]
Gene Expression Viewer (FireBrowse)MB [ Firebrowse - Broad ]
GenevisibleExpression of MB in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4151
GTEX Portal (Tissue expression)MB
Human Protein AtlasENSG00000198125-MB [pathology]   [cell]   [tissue]
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_sf    Globin/Proto    Myoglobin   
Domain families : Pfam (Sanger)Globin (PF00042)   
Domain families : Pfam (NCBI)pfam00042   
Conserved Domain (NCBI)MB
Blocks (Seattle)MB
PDB (RSDB)3RGK   
PDB Europe3RGK   
PDB (PDBSum)3RGK   
PDB (IMB)3RGK   
Structural Biology KnowledgeBase3RGK   
SCOP (Structural Classification of Proteins)3RGK   
CATH (Classification of proteins structures)3RGK   
SuperfamilyP02144
Human Protein Atlas [tissue]ENSG00000198125-MB [tissue]
Peptide AtlasP02144
HPRD01170
IPIIPI00217493   IPI00879081   IPI01010260   IPI00878623   IPI00878918   IPI00879863   IPI00879413   
Protein Interaction databases
DIP (DOE-UCLA)P02144
IntAct (EBI)P02144
BioGRIDMB
STRING (EMBL)MB
ZODIACMB
Ontologies - Pathways
QuickGOP02144
Ontology : AmiGOresponse to hypoxia  oxygen carrier activity  cytosol  heart development  response to hormone  oxygen transport  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 carrier activity  cytosol  heart development  response to hormone  oxygen transport  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
HOGENOMP02144
Homologs : HomoloGeneMB
Homology/Alignments : Family Browser (UCSC)MB
Gene fusions - Rearrangements
Fusion : MitelmanATP6V0A1/MB [17q21.2/22q12.3]  
Fusion PortalATP6V0A1 17q21.2 MB 22q12.3 GBM
Fusion : QuiverMB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMB [hg38]
dbVarMB
ClinVarMB
MonarchMB
1000_GenomesMB 
Exome Variant ServerMB
GNOMAD BrowserENSG00000198125
Varsome BrowserMB
Genomic Variants (DGV)MB [DGVbeta]
DECIPHERMB [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DMB
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160000   
Orphanet
DisGeNETMB
MedgenMB
Genetic Testing Registry MB
NextProtP02144 [Medical]
GENETestsMB
Target ValidationMB
Huge Navigator MB [HugePedia]
ClinGenMB
Clinical trials, drugs, therapy
MyCancerGenomeMB
Protein Interactions : CTD
Pharm GKB GenePA30658
PharosP02144
Clinical trialMB
Miscellaneous
canSAR (ICR)MB (select the gene name)
HarmonizomeMB
DataMed IndexMB
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jan 1 18:24:15 CET 2021
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