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MYH2 (myosin heavy chain 2)

Identity

Alias (NCBI)IBM3
MYH2A
MYHSA2
MYHas8
MYPOP
MyHC-2A
MyHC-IIa
HGNC (Hugo) MYH2
HGNC Alias symbMYH2A
MYHSA2
MyHC-IIa
MYHas8
MyHC-2A
HGNC Previous nameIBM3
HGNC Previous namemyosin, heavy polypeptide 2, skeletal muscle, adult
 inclusion body myopathy 3, autosomal dominant
LocusID (NCBI) 4620
Atlas_Id 50424
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 10521148 and ends at 10549658 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)
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    myosin heavy chain 2
AliasesIBM3; MYH2A; MYHSA2; MYHas8; 
MYPOP; MyHC-2A; MyHC-IIa
GeneCards (Weizmann)MYH2
Ensembl hg19 (Hinxton)ENSG00000125414 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125414 [Gene_View]  ENSG00000125414 [Sequence]  chr17:10521148-10549658 [Contig_View]  MYH2 [Vega]
ICGC DataPortalENSG00000125414
TCGA cBioPortalMYH2
AceView (NCBI)MYH2
Genatlas (Paris)MYH2
SOURCE (Princeton)MYH2
Genetics Home Reference (NIH)MYH2
Genomic and cartography
GoldenPath hg38 (UCSC)MYH2  -     chr17:10521148-10549658 -  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYH2  -     17p13.1   [Description]    (hg19-Feb_2009)
GoldenPathMYH2 - 17p13.1 [CytoView hg19]  MYH2 - 17p13.1 [CytoView hg38]
ImmunoBaseENSG00000125414
Genome Data Viewer NCBIMYH2 [Mapview hg19]  
OMIM160740   605637   
Gene and transcription
Genbank (Entrez)AF111784 AK299440 AK300702 AK308102 BC093082
RefSeq transcript (Entrez)NM_001100112 NM_017534
Consensus coding sequences : CCDS (NCBI)MYH2
Gene ExpressionMYH2 [ NCBI-GEO ]   MYH2 [ EBI - ARRAY_EXPRESS ]   MYH2 [ SEEK ]   MYH2 [ MEM ]
Gene Expression Viewer (FireBrowse)MYH2 [ Firebrowse - Broad ]
GenevisibleExpression of MYH2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4620
GTEX Portal (Tissue expression)MYH2
Human Protein AtlasENSG00000125414-MYH2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UKX2
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    MYOSIN_MOTOR (PS51456)    SH3_LIKE (PS51844)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    Kinesin_motor_dom_sf    Myosin_head_motor_dom    Myosin_IQ_contain_sf    Myosin_N    Myosin_S1_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
SuperfamilyQ9UKX2
AlphaFold pdb e-kbQ9UKX2   
Human Protein Atlas [tissue]ENSG00000125414-MYH2 [tissue]
HPRD01173
Protein Interaction databases
DIP (DOE-UCLA)Q9UKX2
IntAct (EBI)Q9UKX2
BioGRIDMYH2
STRING (EMBL)MYH2
ZODIACMYH2
Ontologies - Pathways
QuickGOQ9UKX2
Ontology : AmiGOmicrofilament motor activity  protein binding  calmodulin binding  ATP binding  cytosol  muscle myosin complex  muscle myosin complex  cell-cell junction  muscle contraction  muscle contraction  myofibril  sarcomere  muscle filament sliding  myosin filament  protein-containing complex  Fc-gamma receptor signaling pathway involved in phagocytosis  actin filament binding  
Ontology : EGO-EBImicrofilament motor activity  protein binding  calmodulin binding  ATP binding  cytosol  muscle myosin complex  muscle myosin complex  cell-cell junction  muscle contraction  muscle contraction  myofibril  sarcomere  muscle filament sliding  myosin filament  protein-containing complex  Fc-gamma receptor signaling pathway involved in phagocytosis  actin filament binding  
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
Homologs : HomoloGeneMYH2
Homology/Alignments : Family Browser (UCSC)MYH2
Gene fusions - Rearrangements
Fusion : MitelmanVPS53/MYH2 [17p13.3/17p13.1]  
Fusion : QuiverMYH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH2
dbVarMYH2
ClinVarMYH2
MonarchMYH2
1000_GenomesMYH2 
Exome Variant ServerMYH2
GNOMAD BrowserENSG00000125414
Varsome BrowserMYH2
ACMGMYH2 variants
VarityQ9UKX2
Genomic Variants (DGV)MYH2 [DGVbeta]
DECIPHERMYH2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DMYH2
Mutations and Diseases : HGMDMYH2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMYH2
DgiDB (Drug Gene Interaction Database)MYH2
DoCM (Curated mutations)MYH2
CIViC (Clinical Interpretations of Variants in Cancer)MYH2
Cancer3DMYH2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160740    605637   
Orphanet22337    11134   
DisGeNETMYH2
MedgenMYH2
Genetic Testing Registry MYH2
NextProtQ9UKX2 [Medical]
GENETestsMYH2
Target ValidationMYH2
Huge Navigator MYH2 [HugePedia]
ClinGenMYH2
Clinical trials, drugs, therapy
MyCancerGenomeMYH2
Protein Interactions : CTDMYH2
Pharm GKB GenePA31369
PharosQ9UKX2
Clinical trialMYH2
Miscellaneous
canSAR (ICR)MYH2
HarmonizomeMYH2
DataMed IndexMYH2
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMYH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:21:44 CEST 2021

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