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MYO6 (myosin VI)

Identity

Other namesDFNA22
DFNB37
HGNC (Hugo) MYO6
LocusID (NCBI) 4646
Location 6q14.1
Location_base_pair Starts at 76458909 and ends at 76629254 bp from pter ( according to hg19-Feb_2009)
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)MYO6   7605
Cards
Entrez_Gene (NCBI)MYO6  4646  myosin VI
GeneCards (Weizmann)MYO6
Ensembl (Hinxton)ENSG00000196586 [Gene_View]  chr6:76458909-76629254 [Contig_View]  MYO6 [Vega]
ICGC DataPortalENSG00000196586
cBioPortalMYO6
AceView (NCBI)MYO6
Genatlas (Paris)MYO6
WikiGenes4646
SOURCE (Princeton)NM_004999
Genomic and cartography
GoldenPath (UCSC)MYO6  -  6q14.1   chr6:76458909-76629254 +  6q14.1   [Description]    (hg19-Feb_2009)
EnsemblMYO6 - 6q14.1 [CytoView]
Mapping of homologs : NCBIMYO6 [Mapview]
OMIM600970   606346   607821   
Gene and transcription
Genbank (Entrez)AB002387 AK095294 BC012598 BC146764 BX647397
RefSeq transcript (Entrez)NM_004999
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_009934 NT_007299 NW_001838987 NW_004929327
Consensus coding sequences : CCDS (NCBI)MYO6
Cluster EST : UnigeneHs.149387 [ NCBI ]
CGAP (NCI)Hs.149387
Alternative Splicing : Fast-db (Paris)GSHG0025852
Alternative Splicing GalleryENSG00000196586
Gene ExpressionMYO6 [ NCBI-GEO ]     MYO6 [ SEEK ]   MYO6 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UM54 (Uniprot)
NextProtQ9UM54  [Medical]
With graphics : InterProQ9UM54
Splice isoforms : SwissVarQ9UM54 (Swissvar)
Domaine pattern : Prosite (Expaxy)IQ (PS50096)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS [organisation]   Myosin_head_motor_dom [organisation]   P-loop_NTPase [organisation]  
Related proteins : CluSTrQ9UM54
Domain families : Pfam (Sanger)Myosin_head (PF00063)   
Domain families : Pfam (NCBI)pfam00063   
Domain families : Smart (EMBL)IQ (SM00015)  MYSc (SM00242)  
DMDM Disease mutations4646
Blocks (Seattle)Q9UM54
Human Protein AtlasENSG00000196586 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9UM54
HPRD02985
IPIIPI00069126   IPI00008455   IPI00816461   IPI00642722   IPI00941711   IPI00816452   IPI00844172   IPI00552641   
Protein Interaction databases
DIP (DOE-UCLA)Q9UM54
IntAct (EBI)Q9UM54
FunCoupENSG00000196586
BioGRIDMYO6
InParanoidQ9UM54
Interologous Interaction database Q9UM54
IntegromeDBMYO6
STRING (EMBL)MYO6
Ontologies - Pathways
Ontology : AmiGOruffle  motor activity  actin binding  protein binding  calmodulin binding  calmodulin binding  ATP binding  nucleus  nucleoplasm  cytoplasm  cytoplasm  lysosomal membrane  Golgi apparatus  cytosol  plasma membrane  coated pit  cell cortex  protein targeting  intracellular protein transport  endocytosis  endocytosis  synaptic transmission  synapse assembly  sensory perception of sound  locomotory behavior  glutamate secretion  cytoplasmic membrane-bounded vesicle  dendrite development  unconventional myosin complex  DNA-directed RNA polymerase II, holoenzyme  actin filament-based movement  actin filament-based movement  endocytic vesicle  DNA damage response, signal transduction by p53 class mediator  axon  clathrin-coated vesicle membrane  filamentous actin  filamentous actin  nuclear membrane  ruffle membrane  inner ear morphogenesis  auditory receptor cell differentiation  neuronal cell body  ADP binding  clathrin-coated endocytic vesicle  positive regulation of transcription from RNA polymerase II promoter  regulation of synaptic plasticity  perinuclear region of cytoplasm  perinuclear region of cytoplasm  actin filament binding  actin filament binding  regulation of secretion  minus-end directed microfilament motor activity  cellular response to electrical stimulus  
Ontology : EGO-EBIruffle  motor activity  actin binding  protein binding  calmodulin binding  calmodulin binding  ATP binding  nucleus  nucleoplasm  cytoplasm  cytoplasm  lysosomal membrane  Golgi apparatus  cytosol  plasma membrane  coated pit  cell cortex  protein targeting  intracellular protein transport  endocytosis  endocytosis  synaptic transmission  synapse assembly  sensory perception of sound  locomotory behavior  glutamate secretion  cytoplasmic membrane-bounded vesicle  dendrite development  unconventional myosin complex  DNA-directed RNA polymerase II, holoenzyme  actin filament-based movement  actin filament-based movement  endocytic vesicle  DNA damage response, signal transduction by p53 class mediator  axon  clathrin-coated vesicle membrane  filamentous actin  filamentous actin  nuclear membrane  ruffle membrane  inner ear morphogenesis  auditory receptor cell differentiation  neuronal cell body  ADP binding  clathrin-coated endocytic vesicle  positive regulation of transcription from RNA polymerase II promoter  regulation of synaptic plasticity  perinuclear region of cytoplasm  perinuclear region of cytoplasm  actin filament binding  actin filament binding  regulation of secretion  minus-end directed microfilament motor activity  cellular response to electrical stimulus  
Protein Interaction DatabaseMYO6
Wikipedia pathwaysMYO6
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MYO6
snp3D : Map Gene to Disease4646
SNP (GeneSNP Utah)MYO6
SNP : HGBaseMYO6
Genetic variants : HAPMAPMYO6
Exome VariantMYO6
1000_GenomesMYO6 
ICGC programENSG00000196586 
Somatic Mutations in Cancer : COSMICMYO6 
CONAN: Copy Number AnalysisMYO6 
Mutations and Diseases : HGMDMYO6
Genomic VariantsMYO6  MYO6 [DGVbeta]
dbVarMYO6
ClinVarMYO6
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM600970    606346    607821   
MedgenMYO6
GENETestsMYO6
Disease Genetic AssociationMYO6
Huge Navigator MYO6 [HugePedia]  MYO6 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneMYO6
Homology/Alignments : Family Browser (UCSC)MYO6
Phylogenetic Trees/Animal Genes : TreeFamMYO6
Chemical/Protein Interactions : CTD4646
Chemical/Pharm GKB GenePA31410
Clinical trialMYO6
Cancer Resource (Charite)ENSG00000196586
Other databases
Probes
Litterature
PubMed85 Pubmed reference(s) in Entrez
CoreMineMYO6
iHOPMYO6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 17:08:01 CEST 2014

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