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MYO7A (myosin VIIA)

Identity

Alias (NCBI)DFNA11
DFNB2
MYOVIIA
MYU7A
NSRD2
USH1B
HGNC (Hugo) MYO7A
HGNC Alias symbNSRD2
HGNC Previous nameUSH1B
 DFNB2
 DFNA11
HGNC Previous namemyosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
LocusID (NCBI) 4647
Atlas_Id 51198
Location 11q13.5  [Link to chromosome band 11q13]
Location_base_pair Starts at 77128246 and ends at 77215241 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)
GAB2 (11q14.1)::MYO7A (11q13.5)HSD17B12 (11p11.2)::MYO7A (11q13.5)MBTD1 (17q21.33)::MYO7A (11q13.5)
MYO7A (11q13.5)::GAB2 (11q14.1)MYO7A (11q13.5)::MYO7A (11q13.5)MYO7A (11q13.5)::PSMC3 (11p11.2)
MYO7A (11q13.5)::ZBTB20 (3q13.31)PAK1 (11q13.5)::MYO7A (11q13.5)SYT2 (1q32.1)::MYO7A (11q13.5)
GAB2 11q14.1::MYO7A 11q13.5MBTD1 17q21.33::MYO7A 11q13.5MYO7A 11q13.5::GAB2 11q14.1
PAK1 11q13.5::MYO7A 11q13.5

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)MYO7A   7606
LRG (Locus Reference Genomic)LRG_1420
Cards
Entrez_Gene (NCBI)MYO7A    myosin VIIA
AliasesDFNA11; DFNB2; MYOVIIA; MYU7A; 
NSRD2; USH1B
GeneCards (Weizmann)MYO7A
Ensembl hg19 (Hinxton)ENSG00000137474 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137474 [Gene_View]  ENSG00000137474 [Sequence]  chr11:77128246-77215241 [Contig_View]  MYO7A [Vega]
ICGC DataPortalENSG00000137474
TCGA cBioPortalMYO7A
AceView (NCBI)MYO7A
Genatlas (Paris)MYO7A
SOURCE (Princeton)MYO7A
Genetics Home Reference (NIH)MYO7A
Genomic and cartography
GoldenPath hg38 (UCSC)MYO7A  -     chr11:77128246-77215241 +  11q13.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYO7A  -     11q13.5   [Description]    (hg19-Feb_2009)
GoldenPathMYO7A - 11q13.5 [CytoView hg19]  MYO7A - 11q13.5 [CytoView hg38]
ImmunoBaseENSG00000137474
Genome Data Viewer NCBIMYO7A [Mapview hg19]  
OMIM276900   276903   600060   601317   
Gene and transcription
Genbank (Entrez)AB209629 AB290181 BC023212 BC030215 BC144519
RefSeq transcript (Entrez)NM_000260 NM_001127179 NM_001127180 NM_001369365
Consensus coding sequences : CCDS (NCBI)MYO7A
Gene ExpressionMYO7A [ NCBI-GEO ]   MYO7A [ EBI - ARRAY_EXPRESS ]   MYO7A [ SEEK ]   MYO7A [ MEM ]
Gene Expression Viewer (FireBrowse)MYO7A [ Firebrowse - Broad ]
GenevisibleExpression of MYO7A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4647
GTEX Portal (Tissue expression)MYO7A
Human Protein AtlasENSG00000137474-MYO7A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13402   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13402  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13402
PhosPhoSitePlusQ13402
Domaine pattern : Prosite (Expaxy)FERM_3 (PS50057)    IQ (PS50096)    MYOSIN_MOTOR (PS51456)    MYTH4 (PS51016)    SH3 (PS50002)   
Domains : Interpro (EBI)Band_41_domain    FERM/acyl-CoA-bd_prot_sf    FERM_2    FERM_central    FERM_domain    IQ_motif_EF-hand-BS    Kinesin_motor_dom_sf    Myosin_head_motor_dom    Myosin_S1_N    MyoVII_FERM_C1    MyoVII_FERM_C2    MYSc_Myo7    MyTH4_dom    MyTH4_dom_sf    P-loop_NTPase    PH-like_dom_sf    SH3-like_dom_sf    SH3_domain    Ubiquitin-like_domsf   
Domain families : Pfam (Sanger)FERM_M (PF00373)    IQ (PF00612)    Myosin_head (PF00063)    MyTH4 (PF00784)   
Domain families : Pfam (NCBI)pfam00373    pfam00612    pfam00063    pfam00784   
Domain families : Smart (EMBL)B41 (SM00295)  IQ (SM00015)  MYSc (SM00242)  MyTH4 (SM00139)  SH3 (SM00326)  
Conserved Domain (NCBI)MYO7A
PDB (RSDB)5MV9   
PDB Europe5MV9   
PDB (PDBSum)5MV9   
PDB (IMB)5MV9   
Structural Biology KnowledgeBase5MV9   
SCOP (Structural Classification of Proteins)5MV9   
CATH (Classification of proteins structures)5MV9   
SuperfamilyQ13402
AlphaFold pdb e-kbQ13402   
Human Protein Atlas [tissue]ENSG00000137474-MYO7A [tissue]
HPRD02043
Protein Interaction databases
DIP (DOE-UCLA)Q13402
IntAct (EBI)Q13402
BioGRIDMYO7A
STRING (EMBL)MYO7A
ZODIACMYO7A
Ontologies - Pathways
QuickGOQ13402
Ontology : AmiGOmicrofilament motor activity  microfilament motor activity  photoreceptor outer segment  phagolysosome assembly  photoreceptor inner segment  protein binding  calmodulin binding  ATP binding  cytoplasm  cytoplasm  lysosomal membrane  cytosol  microvillus  cell cortex  intracellular protein transport  actin filament organization  lysosome organization  sensory organ development  visual perception  sensory perception of sound  sensory perception of sound  sensory perception of sound  actin cytoskeleton  apical plasma membrane  myosin complex  protein domain specific binding  actin filament-based movement  vesicle transport along actin filament  spectrin binding  vesicle  photoreceptor connecting cilium  stereocilium  cellular protein localization  eye photoreceptor cell development  melanosome  mechanoreceptor differentiation  synapse  post-embryonic animal organ morphogenesis  sensory perception of light stimulus  equilibrioception  actin filament binding  actin filament binding  pigment granule transport  auditory receptor cell stereocilium organization  stereocilium base  
Ontology : EGO-EBImicrofilament motor activity  microfilament motor activity  photoreceptor outer segment  phagolysosome assembly  photoreceptor inner segment  protein binding  calmodulin binding  ATP binding  cytoplasm  cytoplasm  lysosomal membrane  cytosol  microvillus  cell cortex  intracellular protein transport  actin filament organization  lysosome organization  sensory organ development  visual perception  sensory perception of sound  sensory perception of sound  sensory perception of sound  actin cytoskeleton  apical plasma membrane  myosin complex  protein domain specific binding  actin filament-based movement  vesicle transport along actin filament  spectrin binding  vesicle  photoreceptor connecting cilium  stereocilium  cellular protein localization  eye photoreceptor cell development  melanosome  mechanoreceptor differentiation  synapse  post-embryonic animal organ morphogenesis  sensory perception of light stimulus  equilibrioception  actin filament binding  actin filament binding  pigment granule transport  auditory receptor cell stereocilium organization  stereocilium base  
NDEx NetworkMYO7A
Atlas of Cancer Signalling NetworkMYO7A
Wikipedia pathwaysMYO7A
Orthology - Evolution
OrthoDB4647
GeneTree (enSembl)ENSG00000137474
Phylogenetic Trees/Animal Genes : TreeFamMYO7A
Homologs : HomoloGeneMYO7A
Homology/Alignments : Family Browser (UCSC)MYO7A
Gene fusions - Rearrangements
Fusion : MitelmanGAB2::MYO7A [11q14.1/11q13.5]  
Fusion : MitelmanMBTD1::MYO7A [17q21.33/11q13.5]  
Fusion : MitelmanMYO7A::GAB2 [11q13.5/11q14.1]  
Fusion : MitelmanMYO7A::ZBTB20 [11q13.5/3q13.31]  
Fusion : MitelmanPAK1::MYO7A [11q13.5/11q13.5]  
Fusion : QuiverMYO7A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYO7A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYO7A
dbVarMYO7A
ClinVarMYO7A
MonarchMYO7A
1000_GenomesMYO7A 
Exome Variant ServerMYO7A
GNOMAD BrowserENSG00000137474
Varsome BrowserMYO7A
ACMGMYO7A variants
VarityQ13402
Genomic Variants (DGV)MYO7A [DGVbeta]
DECIPHERMYO7A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYO7A 
Mutations
ICGC Data PortalMYO7A 
TCGA Data PortalMYO7A 
Broad Tumor PortalMYO7A
OASIS PortalMYO7A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYO7A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMYO7A
Mutations and Diseases : HGMDMYO7A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMYO7A
DgiDB (Drug Gene Interaction Database)MYO7A
DoCM (Curated mutations)MYO7A
CIViC (Clinical Interpretations of Variants in Cancer)MYO7A
Cancer3DMYO7A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM276900    276903    600060    601317   
Orphanet19168    19167    12046    12047   
DisGeNETMYO7A
MedgenMYO7A
Genetic Testing Registry MYO7A
NextProtQ13402 [Medical]
GENETestsMYO7A
Target ValidationMYO7A
Huge Navigator MYO7A [HugePedia]
ClinGenMYO7A
Clinical trials, drugs, therapy
MyCancerGenomeMYO7A
Protein Interactions : CTDMYO7A
Pharm GKB GenePA31411
PharosQ13402
Clinical trialMYO7A
Miscellaneous
canSAR (ICR)MYO7A
HarmonizomeMYO7A
ARCHS4MYO7A
DataMed IndexMYO7A
Probes
Litterature
PubMed148 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMYO7A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 20 12:48:23 CET 2022

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