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MYOZ2 (myozenin 2)

Identity

Other namesC4orf5
CMH16
CS-1
HGNC (Hugo) MYOZ2
LocusID (NCBI) 51778
Atlas_Id 41485
Location 4q26  [Link to chromosome band 4q26]
Location_base_pair Starts at 120056939 and ends at 120108944 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CKM (19q13.32) / MYOZ2 (4q26)MYOZ2 (4q26) / MYOZ2 (4q26)USP53 (4q26) / MYOZ2 (4q26)
USP53 4q26 / MYOZ2 4q26

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)MYOZ2   1330
Cards
Entrez_Gene (NCBI)MYOZ2  51778  myozenin 2
AliasesC4orf5; CMH16; CS-1
GeneCards (Weizmann)MYOZ2
Ensembl hg19 (Hinxton)ENSG00000172399 [Gene_View]  chr4:120056939-120108944 [Contig_View]  MYOZ2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000172399 [Gene_View]  chr4:120056939-120108944 [Contig_View]  MYOZ2 [Vega]
ICGC DataPortalENSG00000172399
TCGA cBioPortalMYOZ2
AceView (NCBI)MYOZ2
Genatlas (Paris)MYOZ2
WikiGenes51778
SOURCE (Princeton)MYOZ2
Genomic and cartography
GoldenPath hg19 (UCSC)MYOZ2  -     chr4:120056939-120108944 +  4q26   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYOZ2  -     4q26   [Description]    (hg38-Dec_2013)
EnsemblMYOZ2 - 4q26 [CytoView hg19]  MYOZ2 - 4q26 [CytoView hg38]
Mapping of homologs : NCBIMYOZ2 [Mapview hg19]  MYOZ2 [Mapview hg38]
OMIM605602   613838   
Gene and transcription
Genbank (Entrez)AF007160 AF249873 AJ252149 AK313856 AY013295
RefSeq transcript (Entrez)NM_016599
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_029747 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)MYOZ2
Cluster EST : UnigeneHs.732122 [ NCBI ]
CGAP (NCI)Hs.732122
Alternative Splicing GalleryENSG00000172399
Gene ExpressionMYOZ2 [ NCBI-GEO ]   MYOZ2 [ EBI - ARRAY_EXPRESS ]   MYOZ2 [ SEEK ]   MYOZ2 [ MEM ]
Gene Expression Viewer (FireBrowse)MYOZ2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51778
GTEX Portal (Tissue expression)MYOZ2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NPC6 (Uniprot)
NextProtQ9NPC6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NPC6
Splice isoforms : SwissVarQ9NPC6 (Swissvar)
PhosPhoSitePlusQ9NPC6
Domains : Interpro (EBI)MYOZ   
Domain families : Pfam (Sanger)Calsarcin (PF05556)   
Domain families : Pfam (NCBI)pfam05556   
DMDM Disease mutations51778
Blocks (Seattle)MYOZ2
SuperfamilyQ9NPC6
Human Protein AtlasENSG00000172399
Peptide AtlasQ9NPC6
HPRD05724
IPIIPI00387020   IPI00981841   
Protein Interaction databases
DIP (DOE-UCLA)Q9NPC6
IntAct (EBI)Q9NPC6
FunCoupENSG00000172399
BioGRIDMYOZ2
STRING (EMBL)MYOZ2
ZODIACMYOZ2
Ontologies - Pathways
QuickGOQ9NPC6
Ontology : AmiGOactin binding  protein binding  biological_process  actin cytoskeleton  sarcomere  Z disc  protein phosphatase 2B binding  telethonin binding  
Ontology : EGO-EBIactin binding  protein binding  biological_process  actin cytoskeleton  sarcomere  Z disc  protein phosphatase 2B binding  telethonin binding  
NDEx Network
Atlas of Cancer Signalling NetworkMYOZ2
Wikipedia pathwaysMYOZ2
Orthology - Evolution
OrthoDB51778
GeneTree (enSembl)ENSG00000172399
Phylogenetic Trees/Animal Genes : TreeFamMYOZ2
Homologs : HomoloGeneMYOZ2
Homology/Alignments : Family Browser (UCSC)MYOZ2
Gene fusions - Rearrangements
Fusion: TCGAUSP53 4q26 MYOZ2 4q26 OV
Polymorphisms : SNP, variants
NCBI Variation ViewerMYOZ2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYOZ2
dbVarMYOZ2
ClinVarMYOZ2
1000_GenomesMYOZ2 
Exome Variant ServerMYOZ2
ExAC (Exome Aggregation Consortium)MYOZ2 (select the gene name)
Genetic variants : HAPMAP51778
Genomic Variants (DGV)MYOZ2 [DGVbeta]
Mutations
ICGC Data PortalMYOZ2 
TCGA Data PortalMYOZ2 
Broad Tumor PortalMYOZ2
OASIS PortalMYOZ2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYOZ2 
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
BioMutasearch MYOZ2
DgiDB (Drug Gene Interaction Database)MYOZ2
DoCM (Curated mutations)MYOZ2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYOZ2 (select a term)
intoGenMYOZ2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)4:120056939-120108944  ENSG00000172399
CONAN: Copy Number AnalysisMYOZ2 
Mutations and Diseases : HGMDMYOZ2
OMIM605602    613838   
MedgenMYOZ2
Genetic Testing Registry MYOZ2
NextProtQ9NPC6 [Medical]
TSGene51778
GENETestsMYOZ2
Huge Navigator MYOZ2 [HugePedia]
snp3D : Map Gene to Disease51778
BioCentury BCIQMYOZ2
ClinGenMYOZ2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51778
Chemical/Pharm GKB GenePA31421
Clinical trialMYOZ2
Miscellaneous
canSAR (ICR)MYOZ2 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYOZ2
EVEXMYOZ2
GoPubMedMYOZ2
iHOPMYOZ2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:22:35 CEST 2016

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