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MYL3 (myosin, light chain 3, alkali; ventricular, skeletal, slow)

Identity

Other namesCMH8
MLC1SB
MLC1V
VLC1
HGNC (Hugo) MYL3
LocusID (NCBI) 4634
Location 3p21.31
Location_base_pair Starts at 46899357 and ends at 46904973 bp from pter ( according to hg19-Feb_2009)
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)MYL3   7584
Cards
Entrez_Gene (NCBI)MYL3  4634  myosin, light chain 3, alkali; ventricular, skeletal, slow
GeneCards (Weizmann)MYL3
Ensembl hg19 (Hinxton)ENSG00000160808 [Gene_View]  chr3:46899357-46904973 [Contig_View]  MYL3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000160808 [Gene_View]  chr3:46899357-46904973 [Contig_View]  MYL3 [Vega]
ICGC DataPortalENSG00000160808
cBioPortalMYL3
AceView (NCBI)MYL3
Genatlas (Paris)MYL3
WikiGenes4634
SOURCE (Princeton)MYL3
Genomic and cartography
GoldenPath hg19 (UCSC)MYL3  -     chr3:46899357-46904973 -  3p21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYL3  -     3p21.31   [Description]    (hg38-Dec_2013)
EnsemblMYL3 - 3p21.31 [CytoView hg19]  MYL3 - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBIMYL3 [Mapview hg19]  MYL3 [Mapview hg38]
OMIM160790   608751   
Gene and transcription
Genbank (Entrez)AF174483 AJ709328 AK312044 BC009790 BP316922
RefSeq transcript (Entrez)NM_000258
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_007555 NT_022517 NW_001838877 NW_004929309
Consensus coding sequences : CCDS (NCBI)MYL3
Cluster EST : UnigeneHs.517939 [ NCBI ]
CGAP (NCI)Hs.517939
Alternative Splicing : Fast-db (Paris)GSHG0021673
Alternative Splicing GalleryENSG00000160808
Gene ExpressionMYL3 [ NCBI-GEO ]     MYL3 [ SEEK ]   MYL3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08590 (Uniprot)
NextProtP08590  [Medical]
With graphics : InterProP08590
Splice isoforms : SwissVarP08590 (Swissvar)
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_hand_dom   
Related proteins : CluSTrP08590
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations4634
Blocks (Seattle)P08590
Human Protein AtlasENSG00000160808
Peptide AtlasP08590
HPRD01183
IPIIPI00243742   IPI00926541   
Protein Interaction databases
DIP (DOE-UCLA)P08590
IntAct (EBI)P08590
FunCoupENSG00000160808
BioGRIDMYL3
IntegromeDBMYL3
STRING (EMBL)MYL3
Ontologies - Pathways
QuickGOP08590
Ontology : AmiGOregulation of the force of heart contraction  motor activity  actin monomer binding  calcium ion binding  cytosol  muscle myosin complex  regulation of striated muscle contraction  skeletal muscle tissue development  metabolic process  structural constituent of muscle  sarcomere  muscle filament sliding  A band  I band  myosin II heavy chain binding  positive regulation of ATPase activity  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  
Ontology : EGO-EBIregulation of the force of heart contraction  motor activity  actin monomer binding  calcium ion binding  cytosol  muscle myosin complex  regulation of striated muscle contraction  skeletal muscle tissue development  metabolic process  structural constituent of muscle  sarcomere  muscle filament sliding  A band  I band  myosin II heavy chain binding  positive regulation of ATPase activity  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
Protein Interaction DatabaseMYL3
DoCM (Curated mutations)MYL3
Wikipedia pathwaysMYL3
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMYL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYL3
dbVarMYL3
ClinVarMYL3
1000_GenomesMYL3 
Exome Variant ServerMYL3
SNP (GeneSNP Utah)MYL3
SNP : HGBaseMYL3
Genetic variants : HAPMAPMYL3
Genomic VariantsMYL3  MYL3 [DGVbeta]
Mutations
ICGC Data PortalENSG00000160808 
Somatic Mutations in Cancer : COSMICMYL3 
CONAN: Copy Number AnalysisMYL3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:46899357-46904973
Mutations and Diseases : HGMDMYL3
OMIM160790    608751   
MedgenMYL3
NextProtP08590 [Medical]
GENETestsMYL3
Disease Genetic AssociationMYL3
Huge Navigator MYL3 [HugePedia]  MYL3 [HugeCancerGEM]
snp3D : Map Gene to Disease4634
DGIdb (Drug Gene Interaction db)MYL3
General knowledge
Homologs : HomoloGeneMYL3
Homology/Alignments : Family Browser (UCSC)MYL3
Phylogenetic Trees/Animal Genes : TreeFamMYL3
Chemical/Protein Interactions : CTD4634
Chemical/Pharm GKB GenePA31381
Clinical trialMYL3
Cancer Resource (Charite)ENSG00000160808
Other databases
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
CoreMineMYL3
GoPubMedMYL3
iHOPMYL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:22:07 CET 2014

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