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MYL2 (myosin, light chain 2, regulatory, cardiac, slow)

Identity

Other namesCMH10
MLC2
HGNC (Hugo) MYL2
LocusID (NCBI) 4633
Location 12q24.11
Location_base_pair Starts at 111348624 and ends at 111358404 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)MYL2   7583
Cards
Entrez_Gene (NCBI)MYL2  4633  myosin, light chain 2, regulatory, cardiac, slow
GeneCards (Weizmann)MYL2
Ensembl (Hinxton)ENSG00000111245 [Gene_View]  chr12:111348624-111358404 [Contig_View]  MYL2 [Vega]
ICGC DataPortalENSG00000111245
AceView (NCBI)MYL2
Genatlas (Paris)MYL2
WikiGenes4633
SOURCE (Princeton)NM_000432
Genomic and cartography
GoldenPath (UCSC)MYL2  -  12q24.11   chr12:111348624-111358404 -  12q24.11   [Description]    (hg19-Feb_2009)
EnsemblMYL2 - 12q24.11 [CytoView]
Mapping of homologs : NCBIMYL2 [Mapview]
OMIM160781   608758   
Gene and transcription
Genbank (Entrez)AA090235 AF020768 AK312013 BC015821 BC031006
RefSeq transcript (Entrez)NM_000432
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_007554 NT_029419 NW_001838063 NW_004929385
Consensus coding sequences : CCDS (NCBI)MYL2
Cluster EST : UnigeneHs.75535 [ NCBI ]
CGAP (NCI)Hs.75535
Alternative Splicing : Fast-db (Paris)GSHG0007781
Alternative Splicing GalleryENSG00000111245
Gene ExpressionMYL2 [ NCBI-GEO ]     MYL2 [ SEEK ]   MYL2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10916 (Uniprot)
NextProtP10916  [Medical]
With graphics : InterProP10916
Splice isoforms : SwissVarP10916 (Swissvar)
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom   
Related proteins : CluSTrP10916
Domain families : Pfam (Sanger)EF-hand_1 (PF00036)   
Domain families : Pfam (NCBI)pfam00036   
Domain families : Smart (EMBL)EFh (SM00054)  
DMDM Disease mutations4633
Blocks (Seattle)P10916
Human Protein AtlasENSG00000111245
Peptide AtlasP10916
HPRD01181
IPIIPI00216798   IPI01020782   IPI01023048   
Protein Interaction databases
DIP (DOE-UCLA)P10916
IntAct (EBI)P10916
FunCoupENSG00000111245
BioGRIDMYL2
IntegromeDBMYL2
STRING (EMBL)MYL2
Ontologies - Pathways
QuickGOP10916
Ontology : AmiGOactin monomer binding  calcium ion binding  protein binding  cytosol  cytoskeleton  regulation of striated muscle contraction  structural constituent of muscle  post-embryonic development  actin cytoskeleton  myosin complex  myofibril  sarcomere  muscle filament sliding  negative regulation of cell growth  A band  myosin heavy chain binding  muscle cell fate specification  muscle fiber development  cardiac myofibril assembly  ventricular cardiac muscle tissue morphogenesis  heart contraction  cardiac muscle contraction  
Ontology : EGO-EBIactin monomer binding  calcium ion binding  protein binding  cytosol  cytoskeleton  regulation of striated muscle contraction  structural constituent of muscle  post-embryonic development  actin cytoskeleton  myosin complex  myofibril  sarcomere  muscle filament sliding  negative regulation of cell growth  A band  myosin heavy chain binding  muscle cell fate specification  muscle fiber development  cardiac myofibril assembly  ventricular cardiac muscle tissue morphogenesis  heart contraction  cardiac muscle contraction  
Pathways : BIOCARTAALK in cardiac myocytes [Genes]    Rho cell motility signaling pathway [Genes]    Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia [Genes]    CCR3 signaling in Eosinophils [Genes]    mCalpain and friends in Cell motility [Genes]    Rac 1 cell motility signaling pathway [Genes]   
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Focal adhesion    Tight junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
Protein Interaction DatabaseMYL2
Wikipedia pathwaysMYL2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MYL2
SNP (GeneSNP Utah)MYL2
SNP : HGBaseMYL2
Genetic variants : HAPMAPMYL2
1000_GenomesMYL2 
ICGC programENSG00000111245 
CONAN: Copy Number AnalysisMYL2 
Somatic Mutations in Cancer : COSMICMYL2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
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)
DECIPHER (Syndromes)12:111348624-111358404
Mutations and Diseases : HGMDMYL2
OMIM160781    608758   
MedgenMYL2
GENETestsMYL2
Disease Genetic AssociationMYL2
Huge Navigator MYL2 [HugePedia]  MYL2 [HugeCancerGEM]
Genomic VariantsMYL2  MYL2 [DGVbeta]
Exome VariantMYL2
dbVarMYL2
ClinVarMYL2
snp3D : Map Gene to Disease4633
General knowledge
Homologs : HomoloGeneMYL2
Homology/Alignments : Family Browser (UCSC)MYL2
Phylogenetic Trees/Animal Genes : TreeFamMYL2
Chemical/Protein Interactions : CTD4633
Chemical/Pharm GKB GenePA31380
Clinical trialMYL2
Cancer Resource (Charite)ENSG00000111245
Other databases
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
CoreMineMYL2
GoPubMedMYL2
iHOPMYL2
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:43:47 CET 2014

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