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MYH3 (myosin heavy chain 3)

Identity

Alias_namesmyosin
Alias_symbol (synonym)MYHC-EMB
MYHSE1
HEMHC
SMHCE
Other aliasDA2A
DA2B
DA8
HGNC (Hugo) MYH3
LocusID (NCBI) 4621
Atlas_Id 53847
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 10628526 and ends at 10657309 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)
INS-IGF2 (11p15.5) / MYH3 (17p13.1)MYH3 (17p13.1) / CYP3A5 (7q22.1)MYH3 17p13.1 / CYP3A5 7q22.1

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

 


External links

Nomenclature
HGNC (Hugo)MYH3   7573
Cards
Entrez_Gene (NCBI)MYH3  4621  myosin heavy chain 3
AliasesDA2A; DA2B; DA8; HEMHC; 
MYHC-EMB; MYHSE1; SMHCE
GeneCards (Weizmann)MYH3
Ensembl hg19 (Hinxton)ENSG00000109063 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109063 [Gene_View]  chr17:10628526-10657309 [Contig_View]  MYH3 [Vega]
ICGC DataPortalENSG00000109063
TCGA cBioPortalMYH3
AceView (NCBI)MYH3
Genatlas (Paris)MYH3
WikiGenes4621
SOURCE (Princeton)MYH3
Genetics Home Reference (NIH)MYH3
Genomic and cartography
GoldenPath hg38 (UCSC)MYH3  -     chr17:10628526-10657309 -  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYH3  -     17p13.1   [Description]    (hg19-Feb_2009)
EnsemblMYH3 - 17p13.1 [CytoView hg19]  MYH3 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIMYH3 [Mapview hg19]  MYH3 [Mapview hg38]
OMIM160720   178110   193700   601680   
Gene and transcription
Genbank (Entrez)AY517555 BC172385 BP232093 BP232245 BP232269
RefSeq transcript (Entrez)NM_002470
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYH3
Cluster EST : UnigeneHs.440895 [ NCBI ]
CGAP (NCI)Hs.440895
Alternative Splicing GalleryENSG00000109063
Gene ExpressionMYH3 [ NCBI-GEO ]   MYH3 [ EBI - ARRAY_EXPRESS ]   MYH3 [ SEEK ]   MYH3 [ MEM ]
Gene Expression Viewer (FireBrowse)MYH3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4621
GTEX Portal (Tissue expression)MYH3
Human Protein AtlasENSG00000109063-MYH3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11055   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11055  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11055
Splice isoforms : SwissVarP11055
PhosPhoSitePlusP11055
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    MYOSIN_MOTOR (PS51456)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    Myosin-like_IQ_dom    Myosin_head_motor_dom    Myosin_N    Myosin_tail    P-loop_NTPase   
Domain families : Pfam (Sanger)Myosin_head (PF00063)    Myosin_N (PF02736)    Myosin_tail_1 (PF01576)   
Domain families : Pfam (NCBI)pfam00063    pfam02736    pfam01576   
Domain families : Smart (EMBL)MYSc (SM00242)  
Conserved Domain (NCBI)MYH3
DMDM Disease mutations4621
Blocks (Seattle)MYH3
SuperfamilyP11055
Human Protein Atlas [tissue]ENSG00000109063-MYH3 [tissue]
Peptide AtlasP11055
HPRD01172
IPIIPI00298301   
Protein Interaction databases
DIP (DOE-UCLA)P11055
IntAct (EBI)P11055
FunCoupENSG00000109063
BioGRIDMYH3
STRING (EMBL)MYH3
ZODIACMYH3
Ontologies - Pathways
QuickGOP11055
Ontology : AmiGOmicrofilament motor activity  microfilament motor activity  skeletal muscle contraction  calmodulin binding  ATP binding  cytosol  muscle myosin complex  protein dephosphorylation  muscle organ development  myosin phosphatase activity  sarcomere  actin filament-based movement  muscle filament sliding  embryonic limb morphogenesis  myosin filament  ATPase activity, coupled  sarcomere organization  ATP metabolic process  actin filament binding  face morphogenesis  extracellular exosome  
Ontology : EGO-EBImicrofilament motor activity  microfilament motor activity  skeletal muscle contraction  calmodulin binding  ATP binding  cytosol  muscle myosin complex  protein dephosphorylation  muscle organ development  myosin phosphatase activity  sarcomere  actin filament-based movement  muscle filament sliding  embryonic limb morphogenesis  myosin filament  ATPase activity, coupled  sarcomere organization  ATP metabolic process  actin filament binding  face morphogenesis  extracellular exosome  
Pathways : KEGGTight junction   
NDEx NetworkMYH3
Atlas of Cancer Signalling NetworkMYH3
Wikipedia pathwaysMYH3
Orthology - Evolution
OrthoDB4621
GeneTree (enSembl)ENSG00000109063
Phylogenetic Trees/Animal Genes : TreeFamMYH3
HOVERGENP11055
HOGENOMP11055
Homologs : HomoloGeneMYH3
Homology/Alignments : Family Browser (UCSC)MYH3
Gene fusions - Rearrangements
Fusion : MitelmanMYH3/CYP3A5 [17p13.1/7q22.1]  
Fusion: TCGA_MDACCMYH3 17p13.1 CYP3A5 7q22.1 PRAD
Tumor Fusion PortalMYH3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYH3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH3
dbVarMYH3
ClinVarMYH3
1000_GenomesMYH3 
Exome Variant ServerMYH3
ExAC (Exome Aggregation Consortium)ENSG00000109063
GNOMAD BrowserENSG00000109063
Genetic variants : HAPMAP4621
Genomic Variants (DGV)MYH3 [DGVbeta]
DECIPHERMYH3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYH3 
Mutations
ICGC Data PortalMYH3 
TCGA Data PortalMYH3 
Broad Tumor PortalMYH3
OASIS PortalMYH3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYH3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYH3
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 MYH3
DgiDB (Drug Gene Interaction Database)MYH3
DoCM (Curated mutations)MYH3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYH3 (select a term)
intoGenMYH3
Cancer3DMYH3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160720    178110    193700    601680   
Orphanet421    422    494    10876   
DisGeNETMYH3
MedgenMYH3
Genetic Testing Registry MYH3
NextProtP11055 [Medical]
TSGene4621
GENETestsMYH3
Target ValidationMYH3
Huge Navigator MYH3 [HugePedia]
snp3D : Map Gene to Disease4621
BioCentury BCIQMYH3
ClinGenMYH3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4621
Chemical/Pharm GKB GenePA31370
Clinical trialMYH3
Miscellaneous
canSAR (ICR)MYH3 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYH3
EVEXMYH3
GoPubMedMYH3
iHOPMYH3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:25:12 CET 2017

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