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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MYO7A Gene

protein-coding   GIFtS: 61
GCID: GC11P076839

Myosin VIIA

(Previous names: myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)))
(Previous symbols: USH1B, DFNB2, DFNA11)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Myosin VIIA1 2     MYOVIIA2
USH1B1 2 3 5     MYU7A2
DFNA111 2 5     NSRD22
DFNB21 2 5     Unconventional Myosin-VIIa2
Myosin VIIA (Usher Syndrome 1B (Autosomal Recessive, Severe))1 2     

External Ids:    HGNC: 76061   Entrez Gene: 46472   Ensembl: ENSG000001374747   OMIM: 2769035   UniProtKB: Q134023   

Export aliases for MYO7A gene to outside databases

Previous GC identifers: GC11P079166 GC11P078378 GC11P077062 GC11P076565 GC11P076516 GC11P073136


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MYO7A Gene:
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the
presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail
domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in
this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are
characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Jul 2008)

GeneCards Summary for MYO7A Gene: 
MYO7A (myosin VIIA) is a protein-coding gene. Diseases associated with MYO7A include usher syndrome, type 1b, and dfna11 nonsyndromic hearing loss and deafness, and among its related super-pathways are Antioxidant Action of Vitamin-C and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protein dimerization activity and protein domain specific binding. An important paralog of this gene is MYO3A.

UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402
Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in
intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved
relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor
disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes
and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an
important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in
hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor
protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates
mechanotransduction in cochlear hair cells. Required for normal hearing

Gene Wiki entry for MYO7A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYO7A gene promoter:
         CREB   FOXF2   deltaCREB   STAT3   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYO7A promoter sequence
   Search SABiosciences Chromatin IP Primers for MYO7A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO7A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.5   Ensembl cytogenetic band:  11q13.5   HGNC cytogenetic band: 11q13.5

MYO7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO7A gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P076839:  view genomic region     (about GC identifiers)

Start:
76,839,310 bp from pter      End:
76,926,286 bp from pter
Size:
86,977 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402 (See protein sequence)
Recommended Name: Unconventional myosin-VIIa  
Size: 2215 amino acids; 254390 Da
Subunit: Interacts with PLEKHB1 (via PH domain). Interacts with PCDH15. Interacts with RPE65. Interacts with TWF2
(By similarity). Might homodimerize in a two headed molecule through the formation of a coiled-coil rod. May
interact with CALM. Binds MYRIP and WHRN. Identified in a complex with USH1C and USH1G
Subcellular location: Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Note=In the photoreceptor cells,
mainly localized in the inner and base of outer segments as well as in the synaptic ending region. Colocalizes
with a subset of melanosomes in retinal pigment epithelium cells. Detected at the tip of cochlear hair cell
stereocilia. The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin
Developmental stage: Detected in optic cup in 5.5 weeks-old embryos. Expressed in retinal pigment epithelium,
cochlear and vestibular neuroepithelia, and olfactory epithelium at 8 weeks. At 19 weeks, present in both pigment
epithelium and photoreceptor cells. At 24-28 weeks, expression in pigment epithelium and photoreceptor cells
increases. Present in pigment epithelium and photoreceptor cells in adult
Caution: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-7
(MYH7)
Secondary accessions: F8VUN5 P78427 Q13321 Q14785 Q92821 Q92822
Alternative splicing: 7 isoforms:  Q13402-1   Q13402-2   Q13402-3   Q13402-4   Q13402-5   Q13402-6   Q13402-7   

Explore the universe of human proteins at neXtProt for MYO7A: NX_Q13402

Explore proteomics data for MYO7A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13402

  • MYO7A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYO7A Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000251.3  NP_001120651.2  NP_001120652.1  

    ENSEMBL proteins: 
     ENSP00000386331   ENSP00000386689   ENSP00000392185   ENSP00000386635   ENSP00000417017  

    Human Recombinant Protein Products for MYO7A: 
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    Cloud-Clone Corp. Proteins for MYO7A 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IDA8842737
    GO:0001917photoreceptor inner segment IDA8842737
    GO:0005737cytoplasm ----
    GO:0005765lysosomal membrane IDA16001398
    GO:0005829cytosol IDA15300860

    MYO7A for ontologies           About GeneDecksing



    MYO7A Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MYOVII: Myosins / Myosin superfamily : Class VII
    AKAP: A-kinase anchor proteins

    5/11 InterPro protein domains (see all 11):
     IPR019748 FERM_central
     IPR001452 SH3_domain
     IPR011993 PH_like_dom
     IPR014352 FERM/acyl-CoA-bd_prot_3-hlx
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q13402

    ProtoNet protein and cluster: Q13402

    2 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB000857 Core domain in kinesin and myosin motor


    UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402
    Similarity: Contains 2 FERM domains
    Similarity: Contains 5 IQ domains
    Similarity: Contains 1 myosin head-like domain
    Similarity: Contains 2 MyTH4 domains
    Similarity: Contains 1 SH3 domain


    MYO7A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYO7A_HUMAN, Q13402
    Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in
    intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved
    relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor
    disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes
    and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an
    important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in
    hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor
    protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates
    mechanotransduction in cochlear hair cells. Required for normal hearing
    Enzyme regulation: ATP hydrolysis is inhibited by Mg(2+), already at a concentration of 0.4 mM

         Genatlas biochemistry entry for MYO7A:
    myosin VIIA,145kDa,unconventional,apparently non filamentous,mainly expressed in hair cells of cochlea and pigment
    epithelium of the retina and testis

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity IDA--
    GO:0003774motor activity ----
    GO:0005515protein binding IPI11964381
    GO:0005516calmodulin binding IMP15300860
    GO:0005524ATP binding IEA--
         
    MYO7A for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 18 alleles(MGI details for Myo7a):
     adipose tissue  behavior/neurological  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     immune system  integument  nervous system  no phenotypic analysis  other 
     pigmentation  reproductive system  skeleton  vision/eye 

    MYO7A for phenotypes           About GeneDecksing

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidMYO7A 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO7A


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MYO7A About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    3Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    4Fc-GammaR-Mediated Phagocytosis in Macrophages
    Fc-GammaR-Mediated Phagocytosis in Macrophages0.33
    RhoGDI Pathway0.33
    5Rho Family GTPases
    ILK Signaling0.49

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYO7A (see all 13)
        RhoA Pathway
    Sertoli-Sertoli Cell Junction Dynamics
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYO7A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/27 Interacting proteins for MYO7A (Q134022, 3 ENSP000003863314) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=3 STRING: ENSP00000349467
    CALM2P621583I2D: score=3 
    CALM3P621583I2D: score=3 
    KEAP1Q141453, ENSP000001711114I2D: score=3 STRING: ENSP00000171111
    PRKAR1AP106443, ENSP000003514104I2D: score=3 STRING: ENSP00000351410
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001845phagolysosome assembly IEA--
    GO:0006886intracellular protein transport IEA--
    GO:0006909phagocytosis ----
    GO:0007040lysosome organization IDA16001398
    GO:0007600sensory perception ----

    MYO7A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MYO7A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MYO7A

    4 Novoseek inferred chemical compound relationships for MYO7A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    actomyosin 40 1 18700726 (1)
    gentamicin 24 2 17048225 (2)
    adp 5.35 2 16585515 (1), 18700726 (1)
    calcium 5.21 1 14645474 (1)

    Search CenterWatch for drugs/clinical trials and news about MYO7A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYO7A gene (3 alternative transcripts): 
    NM_000260.3  NM_001127179.2  NM_001127180.1  

    Unigene Cluster for MYO7A:

    Myosin VIIA
    Hs.370421  [show with all ESTs]
    Unigene Representative Sequence: NM_000260
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409709(uc001oyb.2 uc001oyc.2) ENST00000409893(uc010rsl.2)
    ENST00000458637 ENST00000409619(uc010rsm.1 uc009yut.1) ENST00000481328(uc001oyd.3)
    ENST00000458169 ENST00000467137 ENST00000605744 ENST00000526863 ENST00000481532

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    Additional mRNA sequence: 

    AB209629.1 AB290181.1 BC023212.1 BC030215.1 BC144519.1 U34227.1 U39226.1 U55208.1 
    U55209.1 

    9 DOTS entries:

    DT.114244  DT.100743129  DT.101980805  DT.100741455  DT.120707216  DT.75174966  DT.75137629  DT.91961155 
    DT.92018715 

    24/81 AceView cDNA sequences (see all 81):

    BM705493 AL135727 U55208 AA608927 BI819772 BG396645 AA348958 BI825665 
    BM695680 BF035328 BI008082 BU730631 BC030215 BM687728 BC023212 CB994803 
    AW501312 BE280081 N41748 BV204517 U39226 AL042982 NM_000260 BM707199 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MYO7A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^
    SP1:                                                                                                                                                  -         
    SP2:                                                                                                                                                  -         
    SP3:                                                                                                                                                  -         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^
    SP1:        -                       -           -                                                                                                               
    SP2:        -                       -           -                       -                                                                                       
    SP3:        -                       -                                   -                                                                                       
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    ECgene alternative splicing isoforms for MYO7A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MYO7A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCATTCTC
    MYO7A Expression
    About this image


    See MYO7A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYO7A

    SOURCE GeneReport for Unigene cluster: Hs.370421

    UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402
    Tissue specificity: Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in
    kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MYO7A gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myo7a1 , 5 myosin VIIA1, 5 89.75(n)1
    96.57(a)1
      7 (53.57 cM)5
    179211  NM_001256081.11  NP_001243010.11 
     980510605 
    chicken
    (Gallus gallus)
    Aves MYO7A1 myosin VIIA 80.01(n)
    89.18(a)
      419085  XM_417277.3  XP_417277.3 
    lizard
    (Anolis carolinensis)
    Reptilia MYO7A6
    Uncharacterized protein
    87(a)
    1 ↔ 1
    GL343337.1(1040004-1179267)
    zebrafish
    (Danio rerio)
    Actinopterygii myo7a2 myosin VIIa 78.99(n)   252846  AJ404002.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ck1 , 3 myosin ATPase3
    crinkled1
    61(a)
    (best of 3)3
    62.06(n)1
    63.27(a)1
      348821  NM_078847.31  NP_523571.11 
    worm
    (Caenorhabditis elegans)
    Secernentea hum-63 myosin 49(a)   X(2338423-2349954)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VIIIB1 myosin heavy chain-like protein 47.25(n)
    40.51(a)
      828845  NM_118871.5  NP_194467.5 


    ENSEMBL Gene Tree for MYO7A (if available)
    TreeFam Gene Tree for MYO7A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYO7A gene
    MYO3A2  MYO9A2  MYO5C2  MYO102  MYO9B2  MYO5A2  MYO7B2  PLEKHH32  
    MYO5B2  MYO62  MYO3B2  
    18/28 SIMAP similar genes for MYO7A using alignment to 4 protein entries:     MYO7A_HUMAN (see all proteins) (see all similar genes):
    MYO7B    MYO5C    MYH9    MYO1B    MYO10    MYO5B
    MYO1G    MYO1A    MYO1H    MYO1E    MYO1D    MYH10
    DKFZp686A01173    MYH11    MYO1C    MYH2    MYO3B    MYO19

    MYO7A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2441 SNPs in MYO7A are shown (see all 2441)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0273014
    Usher syndrome 1B (USH1B)4--see VAR_0273012 H D mis40--------
    VAR_0093254
    Usher syndrome 1B (USH1B)4--see VAR_0093252 A D mis40--------
    VAR_0093304
    Deafness, autosomal recessive, 2 (DFNB2)4--see VAR_0093302 M I mis40--------
    VAR_0093184
    Usher syndrome 1B (USH1B)4--see VAR_0093182 R C mis40--------
    VAR_0093394
    Usher syndrome 1B (USH1B)4--see VAR_0093392 R S mis40--------
    VAR_0273044
    Usher syndrome 1B (USH1B)4--see VAR_0273042 A T mis40--------
    VAR_0093374
    Usher syndrome 1B (USH1B)4--see VAR_0093372 R Q mis40--------
    VAR_0240464
    Usher syndrome 1B (USH1B)4--see VAR_0240462 A V mis40--------
    VAR_0273054
    Usher syndrome 1B (USH1B)4--see VAR_0273052 T A mis40--------
    VAR_0240444
    Usher syndrome 1B (USH1B)4--see VAR_0240442 R C mis40--------

    HapMap Linkage Disequilibrium report for MYO7A (76839310 - 76926286 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for MYO7A (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2744804CNV Deletion23290073
    esv2744805CNV Deletion23290073
    esv2744810CNV Deletion23290073
    esv2663556CNV Deletion23128226
    esv2744809CNV Deletion23290073
    esv3262CNV Deletion18987735
    esv2744806CNV Deletion23290073
    esv2744803CNV Deletion23290073
    nsv509434CNV Insertion20534489
    esv1675994CNV Insertion17803354


    Human Gene Mutation Database (HGMD): MYO7A

    Locus Specific Mutation Databases (LSDB): MYO7A
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 276903   
    OMIM disorders: 276900  600060  601317  
    UniProtKB/Swiss-Prot: MYO7A_HUMAN, Q13402
  • Usher syndrome 1B (USH1B) [MIM:276900]: USH is a genetically heterogeneous condition characterized by the
    association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and
    vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome
    type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function
    and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. DFNA11 is characterized by onset after
    complete speech acquisition and subsequent gradual progression. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Note=Defects in MYO7A may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the
    retina, typically becoming evident in the first years of life. Visual function is usually poor and often
    accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and
    keratoconus

  • 20/26 diseases for MYO7A (see all 26):    About MalaCards
    usher syndrome, type 1b    dfna11 nonsyndromic hearing loss and deafness    deafness, autosomal dominant 11, neurosensory    dfnb 2 nonsyndromic hearing loss and deafness
    deafness, autosomal recessive 2, neurosensory    usher syndrome type i    usher syndrome type 1g    usher syndrome, type 1c
    dfnb1    usher syndrome, type 1f    usher syndrome    nonsyndromic hearing loss and deafness, autosomal recessive
    retinal degeneration    usher syndrome type 3    nonsyndromic hearing loss and deafness, autosomal dominant    hyperopia
    leber congenital amaurosis    sensorineural hearing loss    retinal disease    nonsyndromic deafness

    5 diseases from the University of Copenhagen DISEASES database for MYO7A:
    Usher syndrome     Retinitis pigmentosa     Nonsyndromic deafness     Sensorineural hearing loss
    Blindness

    MYO7A for disorders           About GeneDecksing

    10/13 Novoseek inferred disease relationships for MYO7A gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    usher syndrome 97.6 52 15823922 (3), 16470552 (3), 7568224 (2), 8884267 (2) (see all 34)
    dfnb2 96.7 14 18181211 (5), 8776602 (2), 11992483 (2), 9927480 (1) (see all 7)
    dfna11 95.7 11 11889386 (3), 8776602 (2), 15300860 (1), 11992483 (1) (see all 7)
    congenital deafness 87.8 2 10958658 (2)
    retinitis pigmentosa 85.7 6 10502787 (1), 10612833 (1), 8622919 (1), 11222540 (1)
    dfnb3 79.5 1 11101839 (1)
    dfnb1 79.1 1 11101839 (1)
    deafness sensorineural 78 2 8776602 (1), 8622919 (1)
    retinal degeneration 74.7 7 11889386 (2), 16001398 (1), 11992483 (1), 8884267 (1)
    hearing loss sensorineural 65.7 2 8776602 (1), 11450843 (1)

    GeneTests: MYO7A
    GeneReviews: MYO7A
    Genetic Association Database (GAD): MYO7A
    Human Genome Epidemiology (HuGE) Navigator: MYO7A (8 documents)

    Export disorders for MYO7A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MYO7A gene, integrated from 9 sources (see all 173):
    (articles sorted by number of sources associating them with MYO7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PubMed id 15660226)1, 2, 4, 9 Ouyang X.M.... Liu X.Z. (2005)
    2. Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. (PubMed id 8842737)1, 2, 9 El-Amraoui A.... Petit C. (1996)
    3. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. (PubMed id 7568224)1, 2, 9 Hasson T....Mooseker M.S. (1995)
    4. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (PubMed id 10930322)1, 2, 9 Bharadwaj A.K.... Dryja T.P. (2000)
    5. Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan. (PubMed id 19299023)1, 4, 9 Su M.C....Li S.Y. (2009)
    6. Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). (PubMed id 15300860)1, 2, 9 Bolz H....Gal A. (2004)
    7. Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in usher syndrome 1B. (PubMed id 8884267)1, 2, 9 Chen Z.-Y.... Corey D.P. (1996)
    8. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. (PubMed id 8900236)1, 2, 9 Weston M.D.... Kimberling W.J. (1996)
    9. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (PubMed id 10094549)1, 2, 9 Janecke A.R.... Gal A. (1999)
    10. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. (PubMed id 9171833)1, 2, 9 Weil D.... Petit C. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4647 HGNC: 7606 AceView: MYO7A Ensembl:ENSG00000137474 euGenes: HUgn4647
    ECgene: MYO7A H-InvDB: MYO7A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MYO7A Pharmacogenomics, SNPs, Pathways
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    Mutations of the MYO7A genehttp://www.retina-international.org/files/sci-news/myomut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYO7A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MYO7A gene:
    Search GeneIP for patents involving MYO7A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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