Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

MYOZ2 (myozenin 2)

Identity

Alias_namesC4orf5
chromosome 4 open reading frame 5
Alias_symbol (synonym)CS-1
Other aliasCMH16
HGNC (Hugo) MYOZ2
LocusID (NCBI) 51778
Atlas_Id 41485
Location 4q26  [Link to chromosome band 4q26]
Location_base_pair Starts at 119135784 and ends at 119187789 bp from pter ( according to hg38-Dec_2013)
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
LRG (Locus Reference Genomic)LRG_396
Cards
Entrez_Gene (NCBI)MYOZ2  51778  myozenin 2
AliasesC4orf5; CMH16; CS-1
GeneCards (Weizmann)MYOZ2
Ensembl hg19 (Hinxton)ENSG00000172399 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172399 [Gene_View]  chr4:119135784-119187789 [Contig_View]  MYOZ2 [Vega]
ICGC DataPortalENSG00000172399
TCGA cBioPortalMYOZ2
AceView (NCBI)MYOZ2
Genatlas (Paris)MYOZ2
WikiGenes51778
SOURCE (Princeton)MYOZ2
Genetics Home Reference (NIH)MYOZ2
Genomic and cartography
GoldenPath hg38 (UCSC)MYOZ2  -     chr4:119135784-119187789 +  4q26   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYOZ2  -     4q26   [Description]    (hg19-Feb_2009)
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)
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   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NPC6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NPC6
Splice isoforms : SwissVarQ9NPC6
PhosPhoSitePlusQ9NPC6
Domains : Interpro (EBI)MYOZ   
Domain families : Pfam (Sanger)Calsarcin (PF05556)   
Domain families : Pfam (NCBI)pfam05556   
Conserved Domain (NCBI)MYOZ2
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  Z disc  myofibril assembly  protein phosphatase 2B binding  telethonin binding  FATZ binding  
Ontology : EGO-EBIactin binding  protein binding  biological_process  actin cytoskeleton  sarcomere  Z disc  Z disc  myofibril assembly  protein phosphatase 2B binding  telethonin binding  FATZ binding  
NDEx NetworkMYOZ2
Atlas of Cancer Signalling NetworkMYOZ2
Wikipedia pathwaysMYOZ2
Orthology - Evolution
OrthoDB51778
GeneTree (enSembl)ENSG00000172399
Phylogenetic Trees/Animal Genes : TreeFamMYOZ2
HOVERGENQ9NPC6
HOGENOMQ9NPC6
Homologs : HomoloGeneMYOZ2
Homology/Alignments : Family Browser (UCSC)MYOZ2
Gene fusions - Rearrangements
Fusion: TCGAUSP53 4q26 MYOZ2 4q26 OV
Polymorphisms : SNP and Copy number 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]
DECIPHERMYOZ2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYOZ2 
Mutations
ICGC Data PortalMYOZ2 
TCGA Data PortalMYOZ2 
Broad Tumor PortalMYOZ2
OASIS PortalMYOZ2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYOZ2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYOZ2
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
Cancer3DMYOZ2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605602    613838   
Orphanet
MedgenMYOZ2
Genetic Testing Registry MYOZ2
NextProtQ9NPC6 [Medical]
TSGene51778
GENETestsMYOZ2
Target ValidationMYOZ2
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
PubMed31 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

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:45:55 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.