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MYH2 (myosin, heavy chain 2, skeletal muscle, adult)

Identity

Alias_namesIBM3
myosin, heavy polypeptide 2, skeletal muscle, adult
inclusion body myopathy 3, autosomal dominant
Alias_symbol (synonym)MYH2A
MYHSA2
MyHC-IIa
MYHas8
MyHC-2A
Other aliasMYPOP
HGNC (Hugo) MYH2
LocusID (NCBI) 4620
Atlas_Id 50424
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 10424465 and ends at 10452940 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
VPS53 (17p13.3) / MYH2 (17p13.1)VPS53 17p13.3 / MYH2 17p13.1

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)MYH2   7572
Cards
Entrez_Gene (NCBI)MYH2  4620  myosin, heavy chain 2, skeletal muscle, adult
AliasesIBM3; MYH2A; MYHSA2; MYHas8; 
MYPOP; MyHC-2A; MyHC-IIa
GeneCards (Weizmann)MYH2
Ensembl hg19 (Hinxton)ENSG00000125414 [Gene_View]  chr17:10424465-10452940 [Contig_View]  MYH2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125414 [Gene_View]  chr17:10424465-10452940 [Contig_View]  MYH2 [Vega]
ICGC DataPortalENSG00000125414
TCGA cBioPortalMYH2
AceView (NCBI)MYH2
Genatlas (Paris)MYH2
WikiGenes4620
SOURCE (Princeton)MYH2
Genetics Home Reference (NIH)MYH2
Genomic and cartography
GoldenPath hg19 (UCSC)MYH2  -     chr17:10424465-10452940 -  17p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYH2  -     17p13.1   [Description]    (hg38-Dec_2013)
EnsemblMYH2 - 17p13.1 [CytoView hg19]  MYH2 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIMYH2 [Mapview hg19]  MYH2 [Mapview hg38]
OMIM160740   605637   
Gene and transcription
Genbank (Entrez)AF111784 AK299440 AK300702 AK308102 BC093082
RefSeq transcript (Entrez)NM_001100112 NM_017534
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_013014 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)MYH2
Cluster EST : UnigeneHs.667534 [ NCBI ]
CGAP (NCI)Hs.667534
Alternative Splicing GalleryENSG00000125414
Gene ExpressionMYH2 [ NCBI-GEO ]   MYH2 [ EBI - ARRAY_EXPRESS ]   MYH2 [ SEEK ]   MYH2 [ MEM ]
Gene Expression Viewer (FireBrowse)MYH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4620
GTEX Portal (Tissue expression)MYH2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKX2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKX2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKX2
Splice isoforms : SwissVarQ9UKX2
PhosPhoSitePlusQ9UKX2
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    MYOSIN_MOTOR (PS51456)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    Myosin-like_IQ_dom    Myosin_head_motor_dom    Myosin_N    Myosin_tail    P-loop_NTPase   
Domain families : Pfam (Sanger)Myosin_head (PF00063)    Myosin_N (PF02736)    Myosin_tail_1 (PF01576)   
Domain families : Pfam (NCBI)pfam00063    pfam02736    pfam01576   
Domain families : Smart (EMBL)IQ (SM00015)  MYSc (SM00242)  
Conserved Domain (NCBI)MYH2
DMDM Disease mutations4620
Blocks (Seattle)MYH2
SuperfamilyQ9UKX2
Human Protein AtlasENSG00000125414
Peptide AtlasQ9UKX2
HPRD01173
IPIIPI00007856   IPI00555997   IPI00791763   IPI00979917   IPI01011850   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKX2
IntAct (EBI)Q9UKX2
FunCoupENSG00000125414
BioGRIDMYH2
STRING (EMBL)MYH2
ZODIACMYH2
Ontologies - Pathways
QuickGOQ9UKX2
Ontology : AmiGOmicrofilament motor activity  actin binding  protein binding  calmodulin binding  ATP binding  cytosol  muscle myosin complex  muscle myosin complex  muscle contraction  muscle contraction  metabolic process  myofibril  sarcomere  muscle filament sliding  myosin filament  Fc-gamma receptor signaling pathway involved in phagocytosis  protein complex  
Ontology : EGO-EBImicrofilament motor activity  actin binding  protein binding  calmodulin binding  ATP binding  cytosol  muscle myosin complex  muscle myosin complex  muscle contraction  muscle contraction  metabolic process  myofibril  sarcomere  muscle filament sliding  myosin filament  Fc-gamma receptor signaling pathway involved in phagocytosis  protein complex  
Pathways : BIOCARTANFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes]   
Pathways : KEGGTight junction   
NDEx NetworkMYH2
Atlas of Cancer Signalling NetworkMYH2
Wikipedia pathwaysMYH2
Orthology - Evolution
OrthoDB4620
GeneTree (enSembl)ENSG00000125414
Phylogenetic Trees/Animal Genes : TreeFamMYH2
HOVERGENQ9UKX2
HOGENOMQ9UKX2
Homologs : HomoloGeneMYH2
Homology/Alignments : Family Browser (UCSC)MYH2
Gene fusions - Rearrangements
Fusion : MitelmanVPS53/MYH2 [17p13.3/17p13.1]  [t(17;17)(p13;p13)]  
Fusion: TCGAVPS53 17p13.3 MYH2 17p13.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH2
dbVarMYH2
ClinVarMYH2
1000_GenomesMYH2 
Exome Variant ServerMYH2
ExAC (Exome Aggregation Consortium)MYH2 (select the gene name)
Genetic variants : HAPMAP4620
Genomic Variants (DGV)MYH2 [DGVbeta]
DECIPHER (Syndromes)17:10424465-10452940  ENSG00000125414
CONAN: Copy Number AnalysisMYH2 
Mutations
ICGC Data PortalMYH2 
TCGA Data PortalMYH2 
Broad Tumor PortalMYH2
OASIS PortalMYH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYH2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MYH2
DgiDB (Drug Gene Interaction Database)MYH2
DoCM (Curated mutations)MYH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYH2 (select a term)
intoGenMYH2
Cancer3DMYH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160740    605637   
Orphanet22337    11134   
MedgenMYH2
Genetic Testing Registry MYH2
NextProtQ9UKX2 [Medical]
TSGene4620
GENETestsMYH2
Huge Navigator MYH2 [HugePedia]
snp3D : Map Gene to Disease4620
BioCentury BCIQMYH2
ClinGenMYH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4620
Chemical/Pharm GKB GenePA31369
Clinical trialMYH2
Miscellaneous
canSAR (ICR)MYH2 (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYH2
EVEXMYH2
GoPubMedMYH2
iHOPMYH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:11:24 CEST 2017

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