Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MYL2 (myosin light chain 2)

Identity

Alias (NCBI)CMH10
MLC-2s/v
MLC2
HGNC (Hugo) MYL2
HGNC Alias symbCMH10
HGNC Alias namecardiac ventricular myosin light chain 2
HGNC Previous namemyosin, light polypeptide 2, regulatory, cardiac, slow
 myosin, light chain 2, regulatory, cardiac, slow
LocusID (NCBI) 4633
Atlas_Id 41479
Location 12q24.11  [Link to chromosome band 12q24]
Location_base_pair Starts at 110910845 and ends at 110920579 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)
MIR6723 (1p36.33) / MYL2 (12q24.11)MYL2 (12q24.11) / CCDC120 (Xp11.23)MYL2 (12q24.11) / DSE (6q22.1)
MYL2 (12q24.11) / LOC100507412 (-)MYL2 (12q24.11) / SNRPN (15q11.2)

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
LRG (Locus Reference Genomic)LRG_393
Cards
Entrez_Gene (NCBI)MYL2    myosin light chain 2
AliasesCMH10; MLC-2s/v; MLC2
GeneCards (Weizmann)MYL2
Ensembl hg19 (Hinxton)ENSG00000111245 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111245 [Gene_View]  ENSG00000111245 [Sequence]  chr12:110910845-110920579 [Contig_View]  MYL2 [Vega]
ICGC DataPortalENSG00000111245
TCGA cBioPortalMYL2
AceView (NCBI)MYL2
Genatlas (Paris)MYL2
SOURCE (Princeton)MYL2
Genetics Home Reference (NIH)MYL2
Genomic and cartography
GoldenPath hg38 (UCSC)MYL2  -     chr12:110910845-110920579 -  12q24.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYL2  -     12q24.11   [Description]    (hg19-Feb_2009)
GoldenPathMYL2 - 12q24.11 [CytoView hg19]  MYL2 - 12q24.11 [CytoView hg38]
ImmunoBaseENSG00000111245
genome Data Viewer NCBIMYL2 [Mapview hg19]  
OMIM160781   608758   
Gene and transcription
Genbank (Entrez)AA090235 AF020768 AK312013 BC015821 BC031006
RefSeq transcript (Entrez)NM_000432
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYL2
Alternative Splicing GalleryENSG00000111245
Gene ExpressionMYL2 [ NCBI-GEO ]   MYL2 [ EBI - ARRAY_EXPRESS ]   MYL2 [ SEEK ]   MYL2 [ MEM ]
Gene Expression Viewer (FireBrowse)MYL2 [ Firebrowse - Broad ]
GenevisibleExpression of MYL2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4633
GTEX Portal (Tissue expression)MYL2
Human Protein AtlasENSG00000111245-MYL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10916   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10916  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10916
Splice isoforms : SwissVarP10916
PhosPhoSitePlusP10916
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   
Domain families : Pfam (Sanger)EF-hand_6 (PF13405)   
Domain families : Pfam (NCBI)pfam13405   
Domain families : Smart (EMBL)EFh (SM00054)  
Conserved Domain (NCBI)MYL2
Blocks (Seattle)MYL2
PDB (RSDB)5TBY   
PDB Europe5TBY   
PDB (PDBSum)5TBY   
PDB (IMB)5TBY   
Structural Biology KnowledgeBase5TBY   
SCOP (Structural Classification of Proteins)5TBY   
CATH (Classification of proteins structures)5TBY   
SuperfamilyP10916
Human Protein Atlas [tissue]ENSG00000111245-MYL2 [tissue]
Peptide AtlasP10916
HPRD01181
IPIIPI00216798   IPI01020782   IPI01023048   
Protein Interaction databases
DIP (DOE-UCLA)P10916
IntAct (EBI)P10916
BioGRIDMYL2
STRING (EMBL)MYL2
ZODIACMYL2
Ontologies - Pathways
QuickGOP10916
Ontology : AmiGOregulation of the force of heart contraction  actin monomer binding  calcium ion binding  protein binding  cytosol  cytoskeleton  regulation of striated muscle contraction  heart development  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  cardiac myofibril  positive regulation of the force of heart contraction  
Ontology : EGO-EBIregulation of the force of heart contraction  actin monomer binding  calcium ion binding  protein binding  cytosol  cytoskeleton  regulation of striated muscle contraction  heart development  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  cardiac myofibril  positive regulation of the force of heart contraction  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Focal adhesion    Tight junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
NDEx NetworkMYL2
Atlas of Cancer Signalling NetworkMYL2
Wikipedia pathwaysMYL2
Orthology - Evolution
OrthoDB4633
GeneTree (enSembl)ENSG00000111245
Phylogenetic Trees/Animal Genes : TreeFamMYL2
HOGENOMP10916
Homologs : HomoloGeneMYL2
Homology/Alignments : Family Browser (UCSC)MYL2
Gene fusions - Rearrangements
Fusion : QuiverMYL2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYL2 [hg38]
dbVarMYL2
ClinVarMYL2
MonarchMYL2
1000_GenomesMYL2 
Exome Variant ServerMYL2
GNOMAD BrowserENSG00000111245
Varsome BrowserMYL2
Genomic Variants (DGV)MYL2 [DGVbeta]
DECIPHERMYL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYL2 
Mutations
ICGC Data PortalMYL2 
TCGA Data PortalMYL2 
Broad Tumor PortalMYL2
OASIS PortalMYL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYL2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMYL2
Mutations and Diseases : HGMDMYL2
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)
BioMutasearch MYL2
DgiDB (Drug Gene Interaction Database)MYL2
DoCM (Curated mutations)MYL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYL2 (select a term)
intoGenMYL2
Cancer3DMYL2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160781    608758   
Orphanet493   
DisGeNETMYL2
MedgenMYL2
Genetic Testing Registry MYL2
NextProtP10916 [Medical]
GENETestsMYL2
Target ValidationMYL2
Huge Navigator MYL2 [HugePedia]
ClinGenMYL2 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeMYL2
Protein Interactions : CTD
Pharm GKB GenePA31380
PharosP10916
Clinical trialMYL2
Miscellaneous
canSAR (ICR)MYL2 (select the gene name)
HarmonizomeMYL2
DataMed IndexMYL2
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMYL2
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 18:27:54 CET 2021
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