Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MYO7A (myosin VIIA)

Identity

Other namesDFNA11
DFNB2
MYOVIIA
MYU7A
NSRD2
USH1B
HGNC (Hugo) MYO7A
LocusID (NCBI) 4647
Location 11q13.5
Location_base_pair Starts at 76839310 and ends at 76926286 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

External links

Nomenclature
HGNC (Hugo)MYO7A   7606
Cards
Entrez_Gene (NCBI)MYO7A  4647  myosin VIIA
GeneCards (Weizmann)MYO7A
Ensembl (Hinxton)ENSG00000137474 [Gene_View]  chr11:76839310-76926286 [Contig_View]  MYO7A [Vega]
ICGC DataPortalENSG00000137474
cBioPortalMYO7A
AceView (NCBI)MYO7A
Genatlas (Paris)MYO7A
WikiGenes4647
SOURCE (Princeton)NM_000260 NM_001127179 NM_001127180
Genomic and cartography
GoldenPath (UCSC)MYO7A  -  11q13.5   chr11:76839310-76926286 +  11q13.5   [Description]    (hg19-Feb_2009)
EnsemblMYO7A - 11q13.5 [CytoView]
Mapping of homologs : NCBIMYO7A [Mapview]
OMIM276900   276903   600060   601317   
Gene and transcription
Genbank (Entrez)AB209629 AB290181 BC023212 BC030215 BC144519
RefSeq transcript (Entrez)NM_000260 NM_001127179 NM_001127180
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_009086 NT_167190 NW_001838028 NW_003871081 NW_004929380
Consensus coding sequences : CCDS (NCBI)MYO7A
Cluster EST : UnigeneHs.370421 [ NCBI ]
CGAP (NCI)Hs.370421
Alternative Splicing : Fast-db (Paris)GSHG0005132
Alternative Splicing GalleryENSG00000137474
Gene ExpressionMYO7A [ NCBI-GEO ]     MYO7A [ SEEK ]   MYO7A [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13402 (Uniprot)
NextProtQ13402  [Medical]
With graphics : InterProQ13402
Splice isoforms : SwissVarQ13402 (Swissvar)
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)    IQ (PS50096)    MYTH4 (PS51016)    SH3 (PS50002)   
Domains : Interpro (EBI)Band_41_domain [organisation]   FERM/acyl-CoA-bd_prot_3-hlx [organisation]   FERM_central [organisation]   FERM_domain [organisation]   FERM_N [organisation]   IQ_motif_EF-hand-BS [organisation]   Myosin_head_motor_dom [organisation]   MyTH4_dom [organisation]   P-loop_NTPase [organisation]   PH_like_dom [organisation]   SH3_domain [organisation]  
Related proteins : CluSTrQ13402
Domain families : Pfam (Sanger)FERM_M (PF00373)    FERM_N (PF09379)    IQ (PF00612)    Myosin_head (PF00063)    MyTH4 (PF00784)   
Domain families : Pfam (NCBI)pfam00373    pfam09379    pfam00612    pfam00063    pfam00784   
Domain families : Smart (EMBL)B41 (SM00295)  IQ (SM00015)  MYSc (SM00242)  MyTH4 (SM00139)  SH3 (SM00326)  
DMDM Disease mutations4647
Blocks (Seattle)Q13402
Human Protein AtlasENSG00000137474 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ13402
HPRD02043
IPIIPI00013193   IPI00215753   IPI00936807   IPI00215756   IPI00215758   IPI00215759   IPI00974154   IPI00556583   IPI01008846   IPI00215754   IPI00943793   IPI00974025   
Protein Interaction databases
DIP (DOE-UCLA)Q13402
IntAct (EBI)Q13402
FunCoupENSG00000137474
BioGRIDMYO7A
InParanoidQ13402
Interologous Interaction database Q13402
IntegromeDBMYO7A
STRING (EMBL)MYO7A
Ontologies - Pathways
Ontology : AmiGOmicrofilament motor activity  photoreceptor outer segment  phagolysosome assembly  photoreceptor inner segment  protein binding  calmodulin binding  ATP binding  lysosomal membrane  cytosol  cell cortex  intracellular protein transport  lysosome organization  visual perception  sensory perception of sound  apical plasma membrane  myosin complex  protein domain specific binding  actin filament-based movement  photoreceptor connecting cilium  stereocilium  eye photoreceptor cell development  melanosome  synapse  protein dimerization activity  post-embryonic organ morphogenesis  sensory perception of light stimulus  equilibrioception  actin filament binding  pigment granule transport  auditory receptor cell stereocilium organization  
Ontology : EGO-EBImicrofilament motor activity  photoreceptor outer segment  phagolysosome assembly  photoreceptor inner segment  protein binding  calmodulin binding  ATP binding  lysosomal membrane  cytosol  cell cortex  intracellular protein transport  lysosome organization  visual perception  sensory perception of sound  apical plasma membrane  myosin complex  protein domain specific binding  actin filament-based movement  photoreceptor connecting cilium  stereocilium  eye photoreceptor cell development  melanosome  synapse  protein dimerization activity  post-embryonic organ morphogenesis  sensory perception of light stimulus  equilibrioception  actin filament binding  pigment granule transport  auditory receptor cell stereocilium organization  
Protein Interaction DatabaseMYO7A
Wikipedia pathwaysMYO7A
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MYO7A
snp3D : Map Gene to Disease4647
SNP (GeneSNP Utah)MYO7A
SNP : HGBaseMYO7A
Genetic variants : HAPMAPMYO7A
Exome VariantMYO7A
1000_GenomesMYO7A 
ICGC programENSG00000137474 
Somatic Mutations in Cancer : COSMICMYO7A 
CONAN: Copy Number AnalysisMYO7A 
Mutations and Diseases : HGMDMYO7A
Genomic VariantsMYO7A  MYO7A [DGVbeta]
dbVarMYO7A
ClinVarMYO7A
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM276900    276903    600060    601317   
MedgenMYO7A
GENETestsMYO7A
Disease Genetic AssociationMYO7A
Huge Navigator MYO7A [HugePedia]  MYO7A [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneMYO7A
Homology/Alignments : Family Browser (UCSC)MYO7A
Phylogenetic Trees/Animal Genes : TreeFamMYO7A
Chemical/Protein Interactions : CTD4647
Chemical/Pharm GKB GenePA31411
Clinical trialMYO7A
Cancer Resource (Charite)ENSG00000137474
Other databases
Probes
Litterature
PubMed89 Pubmed reference(s) in Entrez
CoreMineMYO7A
iHOPMYO7A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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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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