Property Summary

NCBI Gene PubMed Count 102
Grant Count 73
R01 Count 42
Funding $10,866,083.93
PubMed Score 131.71
PubTator Score 177.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma -1.279 0.001
ependymoma 1.300 0.001
sonic hedgehog group medulloblastoma 1.800 0.000
medulloblastoma, large-cell 1.600 0.002
adrenocortical carcinoma -1.559 0.001
adult high grade glioma 1.200 0.000
subependymal giant cell astrocytoma 1.560 0.037
pituitary cancer -1.700 0.000

Synonym

Accession Q13402 B9A011 F8VUN5 P78427 Q13321 Q14785 Q92821 Q92822
Symbols DFNB2
MYU7A
NSRD2
USH1B
DFNA11
MYOVIIA

Gene

Gene RIF (57)

PMID Text
27013738 The genetic correction of MYO7A mutation resulted in morphologic and functional recovery of hair cell-like cells derived from induced pluripotent stem cells from a deaf patient.
26968074 The novel compound heterozygous mutations (c.3671C>A and c.390_391insC) in MYO7A gene identified in this study were responsible for the autosomal recessive sensorineural hearing loss of this Chinese family
26960254 MYO7A binds to and impinges on CASPASE-8, revealing a new regulatory axis affecting RIPK1>CASPASE-8 signaling. Results expose a conserved role for unconventional myosins in transducing caspase-dependent regulation of kinases.
26469752 c.6377delC mutation in significant proportion of Usher syndrome in indigenous South Africans
26001786 Electron microscopy revealed that myosin VIIA is a monomer in which the tail domain bends back toward the head-neck domain to form a compact structure. This compact structure is extended at high ionic strength or in the presence of Ca(2+).
25558175 Ten variants in the MYO7A gene and 34 variants in the USH2A gene were detected in Italian patients with Usher syndrome at a high detection rate.
25080338 concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A
24831256 Clinical phenotypes of Usher syndrome associated with MYO7A mutations.
24275721 new variants in genes such as MYO7A is associated with nonsyndromic deafness and vestibular dysfunction
24199935 MYO7A-related ocular disease is variable. Central vision typically remains preserved at least until the third decade of life, with 50% of affected individuals reaching legal blindness by 40 years of age.
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AA Sequence

MVILQQGDHVWMDLRLGQEFDVPIGAVVKLCDSGQVQVVDDEDNEHWISPQNATHIKPMHPTSVHGVEDM      1 - 70
IRLGDLNEAGILRNLLIRYRDHLIYTYTGSILVAVNPYQLLSIYSPEHIRQYTNKKIGEMPPHIFAIADN     71 - 140
CYFNMKRNSRDQCCIISGESGAGKTESTKLILQFLAAISGQHSWIEQQVLEATPILEAFGNAKTIRNDNS    141 - 210
SRFGKYIDIHFNKRGAIEGAKIEQYLLEKSRVCRQALDERNYHVFYCMLEGMSEDQKKKLGLGQASDYNY    211 - 280
LAMGNCITCEGRVDSQEYANIRSAMKVLMFTDTENWEISKLLAAILHLGNLQYEARTFENLDACEVLFSP    281 - 350
SLATAASLLEVNPPDLMSCLTSRTLITRGETVSTPLSREQALDVRDAFVKGIYGRLFVWIVDKINAAIYK    351 - 420
PPSQDVKNSRRSIGLLDIFGFENFAVNSFEQLCINFANEHLQQFFVRHVFKLEQEEYDLESIDWLHIEFT    421 - 490
DNQDALDMIANKPMNIISLIDEESKFPKGTDTTMLHKLNSQHKLNANYIPPKNNHETQFGINHFAGIVYY    491 - 560
ETQGFLEKNRDTLHGDIIQLVHSSRNKFIKQIFQADVAMGAETRKRSPTLSSQFKRSLELLMRTLGACQP    561 - 630
FFVRCIKPNEFKKPMLFDRHLCVRQLRYSGMMETIRIRRAGYPIRYSFVEFVERYRVLLPGVKPAYKQGD    631 - 700
LRGTCQRMAEAVLGTHDDWQIGKTKIFLKDHHDMLLEVERDKAITDRVILLQKVIRGFKDRSNFLKLKNA    701 - 770
ATLIQRHWRGHNCRKNYGLMRLGFLRLQALHRSRKLHQQYRLARQRIIQFQARCRAYLVRKAFRHRLWAV    771 - 840
LTVQAYARGMIARRLHQRLRAEYLWRLEAEKMRLAEEEKLRKEMSAKKAKEEAERKHQERLAQLAREDAE    841 - 910
RELKEKEAARRKKELLEQMERARHEPVNHSDMVDKMFGFLGTSGGLPGQEGQAPSGFEDLERGRREMVEE    911 - 980
DLDAALPLPDEDEEDLSEYKFAKFAATYFQGTTTHSYTRRPLKQPLLYHDDEGDQLAALAVWITILRFMG    981 - 1050
DLPEPKYHTAMSDGSEKIPVMTKIYETLGKKTYKRELQALQGEGEAQLPEGQKKSSVRHKLVHLTLKKKS   1051 - 1120
KLTEEVTKRLHDGESTVQGNSMLEDRPTSNLEKLHFIIGNGILRPALRDEIYCQISKQLTHNPSKSSYAR   1121 - 1190
GWILVSLCVGCFAPSEKFVKYLRNFIHGGPPGYAPYCEERLRRTFVNGTRTQPPSWLELQATKSKKPIML   1191 - 1260
PVTFMDGTTKTLLTDSATTAKELCNALADKISLKDRFGFSLYIALFDKVSSLGSGSDHVMDAISQCEQYA   1261 - 1330
KEQGAQERNAPWRLFFRKEVFTPWHSPSEDNVATNLIYQQVVRGVKFGEYRCEKEDDLAELASQQYFVDY   1331 - 1400
GSEMILERLLNLVPTYIPDREITPLKTLEKWAQLAIAAHKKGIYAQRRTDAQKVKEDVVSYARFKWPLLF   1401 - 1470
SRFYEAYKFSGPSLPKNDVIVAVNWTGVYFVDEQEQVLLELSFPEIMAVSSSRECRVWLSLGCSDLGCAA   1471 - 1540
PHSGWAGLTPAGPCSPCWSCRGAKTTAPSFTLATIKGDEYTFTSSNAEDIRDLVVTFLEGLRKRSKYVVA   1541 - 1610
LQDNPNPAGEESGFLSFAKGDLIILDHDTGEQVMNSGWANGINERTKQRGDFPTDSVYVMPTVTMPPREI   1611 - 1680
VALVTMTPDQRQDVVRLLQLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKARGKDRLWSHTRE   1681 - 1750
PLKQALLKKLLGSEELSQEACLAFIAVLKYMGDYPSKRTRSVNELTDQIFEGPLKAEPLKDEAYVQILKQ   1751 - 1820
LTDNHIRYSEERGWELLWLCTGLFPPSNILLPHVQRFLQSRKHCPLAIDCLQRLQKALRNGSRKYPPHLV   1821 - 1890
EVEAIQHKTTQIFHKVYFPDDTDEAFEVESSTKAKDFCQNIATRLLLKSSEGFSLFVKIADKVLSVPEND   1891 - 1960
FFFDFVRHLTDWIKKARPIKDGIVPSLTYQVFFMKKLWTTTVPGKDPMADSIFHYYQELPKYLRGYHKCT   1961 - 2030
REEVLQLGALIYRVKFEEDKSYFPSIPKLLRELVPQDLIRQVSPDDWKRSIVAYFNKHAGKSKEEAKLAF   2031 - 2100
LKLIFKWPTFGSAFFEVKQTTEPNFPEILLIAINKYGVSLIDPKTKDILTTHPFTKISNWSSGNTYFHIT   2101 - 2170
IGNLVRGSKLLCETSLGYKMDDLLTSYISQMLTAMSKQRGSRSGK                            2171 - 2215
//

Text Mined References (109)

PMID Year Title
27013738 2016 Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells.
26968074 2016 Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family.
26960254 2016 The unconventional myosin CRINKLED and its mammalian orthologue MYO7A regulate caspases in their signalling roles.
26469752 2015 A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora.
26001786 2015 Structure and Regulation of the Movement of Human Myosin VIIA.
25798947 2015 Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
25558175 2014 MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.
25122759 2014 Stable single ?-helices are constant force springs in proteins.
25080338 2014 Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.
24831256 2014 Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
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