Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MYH3 (myosin heavy chain 3)

Identity

Alias (NCBI)CPSFS1A
CPSFS1B
CPSKF1A
CPSKF1B
DA2A
DA2B
DA2B3
DA8
HEMHC
MYHC-EMB
MYHSE1
SMHCE
HGNC (Hugo) MYH3
HGNC Alias symbMYHC-EMB
MYHSE1
HEMHC
SMHCE
HGNC Alias namemyosin, skeletal, heavy chain, embryonic 1
 muscle embryonic myosin heavy chain 3
HGNC Previous namemyosin, heavy polypeptide 3, skeletal muscle, embryonic
LocusID (NCBI) 4621
Atlas_Id 53847
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 10628532 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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(7;17)(q22;p13) MYH3/CYP3A5

External links

Nomenclature
HGNC (Hugo)MYH3   7573
Cards
Entrez_Gene (NCBI)MYH3    myosin heavy chain 3
AliasesCPSFS1A; CPSFS1B; CPSKF1A; CPSKF1B; 
DA2A; DA2B; DA2B3; DA8; HEMHC; MYHC-EMB; MYHSE1; SMHCE
GeneCards (Weizmann)MYH3
Ensembl hg19 (Hinxton)ENSG00000109063 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109063 [Gene_View]  ENSG00000109063 [Sequence]  chr17:10628532-10657309 [Contig_View]  MYH3 [Vega]
ICGC DataPortalENSG00000109063
TCGA cBioPortalMYH3
AceView (NCBI)MYH3
Genatlas (Paris)MYH3
SOURCE (Princeton)MYH3
Genetics Home Reference (NIH)MYH3
Genomic and cartography
GoldenPath hg38 (UCSC)MYH3  -     chr17:10628532-10657309 -  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYH3  -     17p13.1   [Description]    (hg19-Feb_2009)
GoldenPathMYH3 - 17p13.1 [CytoView hg19]  MYH3 - 17p13.1 [CytoView hg38]
ImmunoBaseENSG00000109063
genome Data Viewer NCBIMYH3 [Mapview hg19]  
OMIM160720   178110   193700   618436   618469   
Gene and transcription
Genbank (Entrez)AY517555 BP232093 BP232245 BP232269 BP233139
RefSeq transcript (Entrez)NM_002470
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYH3
Alternative Splicing GalleryENSG00000109063
Gene ExpressionMYH3 [ NCBI-GEO ]   MYH3 [ EBI - ARRAY_EXPRESS ]   MYH3 [ SEEK ]   MYH3 [ MEM ]
Gene Expression Viewer (FireBrowse)MYH3 [ Firebrowse - Broad ]
GenevisibleExpression of MYH3 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)    SH3_LIKE (PS51844)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    Kinesin_motor_dom_sf    Myosin_head_motor_dom    Myosin_IQ_contain_sf    Myosin_N    Myosin_S1_N    Myosin_tail    MYSc_Myh3    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
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
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  ATPase activity  myosin phosphatase activity  sarcomere  actin filament-based movement  muscle filament sliding  embryonic limb morphogenesis  myosin filament  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  ATPase activity  myosin phosphatase activity  sarcomere  actin filament-based movement  muscle filament sliding  embryonic limb morphogenesis  myosin filament  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
HOGENOMP11055
Homologs : HomoloGeneMYH3
Homology/Alignments : Family Browser (UCSC)MYH3
Gene fusions - Rearrangements
Fusion : MitelmanMYH3/CYP3A5 [17p13.1/7q22.1]  
Fusion PortalMYH3 17p13.1 CYP3A5 7q22.1 PRAD
Fusion : QuiverMYH3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYH3 [hg38]
dbVarMYH3
ClinVarMYH3
MonarchMYH3
1000_GenomesMYH3 
Exome Variant ServerMYH3
GNOMAD BrowserENSG00000109063
Varsome BrowserMYH3
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]  
Somatic Mutations in Cancer : COSMIC3DMYH3
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160720    178110    193700    618436    618469   
Orphanet421    422    494    10876   
DisGeNETMYH3
MedgenMYH3
Genetic Testing Registry MYH3
NextProtP11055 [Medical]
GENETestsMYH3
Target ValidationMYH3
Huge Navigator MYH3 [HugePedia]
ClinGenMYH3
Clinical trials, drugs, therapy
MyCancerGenomeMYH3
Protein Interactions : CTD
Pharm GKB GenePA31370
PharosP11055
Clinical trialMYH3
Miscellaneous
canSAR (ICR)MYH3 (select the gene name)
HarmonizomeMYH3
DataMed IndexMYH3
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMYH3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:27:52 CET 2021
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