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MYO5A (myosin VA)

Identity

Alias (NCBI)GS1
MYH12
MYO5
MYR12
HGNC (Hugo) MYO5A
HGNC Alias symbMYO5
GS1
MYR12
HGNC Alias namemyosin, heavy polypeptide kinase
 myosin heavy chain 12
 myoxin
 myosin V
HGNC Previous nameMYH12
HGNC Previous namemyosin VA (heavy polypeptide 12, myoxin)
 myosin VA (heavy chain 12, myoxin)
LocusID (NCBI) 4644
Atlas_Id 51309
Location 15q21.2  [Link to chromosome band 15q21]
Location_base_pair Starts at 52307284 and ends at 52528880 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)
CTTN (11q13.3) / MYO5A (15q21.2)DNAH1 (3p21.1) / MYO5A (15q21.2)MAML2 (11q21) / MYO5A (15q21.2)
MEIS2 (15q14) / MYO5A (15q21.2)MYO5A (15q21.2) / OIP5 (15q15.1)MYO5A (15q21.2) / PJA2 (5q21.3)
MYO5A (15q21.2) / ROS1 (6q22.1)MYO5A (15q21.2) / TNFSF10 (3q26.31)PRKDC (8q11.21) / MYO5A (15q21.2)
ST7L (1p13.2) / MYO5A (15q21.2)XRCC5 (2q35) / MYO5A (15q21.2)MYO5A 15q21.2 / ROS1 6q22.1
MEIS2 15q14 / MYO5A 15q21.2MYO5A 15q21.2 / OIP5 15q15.1PRKDC 8q11.21 / MYO5A 15q21.2

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)MYO5A   7602
LRG (Locus Reference Genomic)LRG_86
Cards
Entrez_Gene (NCBI)MYO5A    myosin VA
AliasesGS1; MYH12; MYO5; MYR12
GeneCards (Weizmann)MYO5A
Ensembl hg19 (Hinxton)ENSG00000197535 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197535 [Gene_View]  ENSG00000197535 [Sequence]  chr15:52307284-52528880 [Contig_View]  MYO5A [Vega]
ICGC DataPortalENSG00000197535
TCGA cBioPortalMYO5A
AceView (NCBI)MYO5A
Genatlas (Paris)MYO5A
SOURCE (Princeton)MYO5A
Genetics Home Reference (NIH)MYO5A
Genomic and cartography
GoldenPath hg38 (UCSC)MYO5A  -     chr15:52307284-52528880 -  15q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYO5A  -     15q21.2   [Description]    (hg19-Feb_2009)
GoldenPathMYO5A - 15q21.2 [CytoView hg19]  MYO5A - 15q21.2 [CytoView hg38]
ImmunoBaseENSG00000197535
Genome Data Viewer NCBIMYO5A [Mapview hg19]  
OMIM160777   214450   
Gene and transcription
Genbank (Entrez)AB209487 AB209505 AB290180 AF055459 AF090424
RefSeq transcript (Entrez)NM_000259 NM_001142495 NM_001382347 NM_001382348 NM_001382349
Consensus coding sequences : CCDS (NCBI)MYO5A
Gene ExpressionMYO5A [ NCBI-GEO ]   MYO5A [ EBI - ARRAY_EXPRESS ]   MYO5A [ SEEK ]   MYO5A [ MEM ]
Gene Expression Viewer (FireBrowse)MYO5A [ Firebrowse - Broad ]
GenevisibleExpression of MYO5A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4644
GTEX Portal (Tissue expression)MYO5A
Human Protein AtlasENSG00000197535-MYO5A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4I1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4I1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4I1
PhosPhoSitePlusQ9Y4I1
Domaine pattern : Prosite (Expaxy)DILUTE (PS51126)    IQ (PS50096)    MYOSIN_MOTOR (PS51456)    SH3_LIKE (PS51844)   
Domains : Interpro (EBI)Dilute_dom    IQ_motif_EF-hand-BS    Kinesin_motor_dom_sf    Myo5a_CBD    Myosin_head_motor_dom    Myosin_N    Myosin_S1_N    MYSc_Myo5    P-loop_NTPase   
Domain families : Pfam (Sanger)DIL (PF01843)    IQ (PF00612)    Myosin_head (PF00063)   
Domain families : Pfam (NCBI)pfam01843    pfam00612    pfam00063   
Domain families : Smart (EMBL)DIL (SM01132)  IQ (SM00015)  MYSc (SM00242)  
Conserved Domain (NCBI)MYO5A
PDB (RSDB)4D07    4J5L    4LLI    4LX1    4LX2    5JCY    5JCZ   
PDB Europe4D07    4J5L    4LLI    4LX1    4LX2    5JCY    5JCZ   
PDB (PDBSum)4D07    4J5L    4LLI    4LX1    4LX2    5JCY    5JCZ   
PDB (IMB)4D07    4J5L    4LLI    4LX1    4LX2    5JCY    5JCZ   
Structural Biology KnowledgeBase4D07    4J5L    4LLI    4LX1    4LX2    5JCY    5JCZ   
SCOP (Structural Classification of Proteins)4D07    4J5L    4LLI    4LX1    4LX2    5JCY    5JCZ   
CATH (Classification of proteins structures)4D07    4J5L    4LLI    4LX1    4LX2    5JCY    5JCZ   
SuperfamilyQ9Y4I1
AlphaFold pdb e-kbQ9Y4I1   
Human Protein Atlas [tissue]ENSG00000197535-MYO5A [tissue]
HPRD01179
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4I1
IntAct (EBI)Q9Y4I1
BioGRIDMYO5A
STRING (EMBL)MYO5A
ZODIACMYO5A
Ontologies - Pathways
QuickGOQ9Y4I1
Ontology : AmiGOmicrofilament motor activity  microfilament motor activity  ruffle  RNA binding  protein binding  calmodulin binding  ATP binding  cytoplasm  cytoplasm  lysosome  early endosome  late endosome  peroxisome  endoplasmic reticulum  cytosol  actin filament  post-Golgi vesicle-mediated transport  actin filament organization  protein transport  actin cytoskeleton  membrane  membrane  vesicle-mediated transport  myosin complex  actin filament-based movement  vesicle transport along actin filament  vesicle transport along actin filament  growth cone  small GTPase binding  vesicle  melanosome transport  filopodium tip  insulin-responsive compartment  cellular response to insulin stimulus  melanosome  neuron projection  actin filament binding  recycling endosome  extracellular exosome  protein localization to plasma membrane  regulation of Golgi organization  
Ontology : EGO-EBImicrofilament motor activity  microfilament motor activity  ruffle  RNA binding  protein binding  calmodulin binding  ATP binding  cytoplasm  cytoplasm  lysosome  early endosome  late endosome  peroxisome  endoplasmic reticulum  cytosol  actin filament  post-Golgi vesicle-mediated transport  actin filament organization  protein transport  actin cytoskeleton  membrane  membrane  vesicle-mediated transport  myosin complex  actin filament-based movement  vesicle transport along actin filament  vesicle transport along actin filament  growth cone  small GTPase binding  vesicle  melanosome transport  filopodium tip  insulin-responsive compartment  cellular response to insulin stimulus  melanosome  neuron projection  actin filament binding  recycling endosome  extracellular exosome  protein localization to plasma membrane  regulation of Golgi organization  
NDEx NetworkMYO5A
Atlas of Cancer Signalling NetworkMYO5A
Wikipedia pathwaysMYO5A
Orthology - Evolution
OrthoDB4644
GeneTree (enSembl)ENSG00000197535
Phylogenetic Trees/Animal Genes : TreeFamMYO5A
Homologs : HomoloGeneMYO5A
Homology/Alignments : Family Browser (UCSC)MYO5A
Gene fusions - Rearrangements
Fusion : MitelmanMEIS2/MYO5A [15q14/15q21.2]  
Fusion : MitelmanMYO5A/OIP5 [15q21.2/15q15.1]  
Fusion : MitelmanPRKDC/MYO5A [8q11.21/15q21.2]  
Fusion : QuiverMYO5A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYO5A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYO5A
dbVarMYO5A
ClinVarMYO5A
MonarchMYO5A
1000_GenomesMYO5A 
Exome Variant ServerMYO5A
GNOMAD BrowserENSG00000197535
Varsome BrowserMYO5A
ACMGMYO5A variants
VarityQ9Y4I1
Genomic Variants (DGV)MYO5A [DGVbeta]
DECIPHERMYO5A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYO5A 
Mutations
ICGC Data PortalMYO5A 
TCGA Data PortalMYO5A 
Broad Tumor PortalMYO5A
OASIS PortalMYO5A [ Somatic mutations - Copy number]
Cancer Gene: CensusMYO5A 
Somatic Mutations in Cancer : COSMICMYO5A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMYO5A
Mutations and Diseases : HGMDMYO5A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMYO5A
DgiDB (Drug Gene Interaction Database)MYO5A
DoCM (Curated mutations)MYO5A
CIViC (Clinical Interpretations of Variants in Cancer)MYO5A
Cancer3DMYO5A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160777    214450   
Orphanet10323    11504    11502   
DisGeNETMYO5A
MedgenMYO5A
Genetic Testing Registry MYO5A
NextProtQ9Y4I1 [Medical]
GENETestsMYO5A
Target ValidationMYO5A
Huge Navigator MYO5A [HugePedia]
ClinGenMYO5A
Clinical trials, drugs, therapy
MyCancerGenomeMYO5A
Protein Interactions : CTDMYO5A
Pharm GKB GenePA31407
PharosQ9Y4I1
Clinical trialMYO5A
Miscellaneous
canSAR (ICR)MYO5A
HarmonizomeMYO5A
DataMed IndexMYO5A
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMYO5A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:21:50 CEST 2021

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