Property Summary

NCBI Gene PubMed Count 39
Grant Count 37
R01 Count 18
Funding $6,866,400.79
PubMed Score 115.91
PubTator Score 92.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis -1.600 0.000
facioscapulohumeral dystrophy -1.800 0.000

 GO Function (1)

Gene RIF (32)

PMID Text
27082237 Mutations in RAI1, OTOF, and SLC26A4 may have roles in nonsyndromic hearing loss in Altaian families in Siberia
24999532 The C2F and C2C domains of otoferlin preferentially bind phosphatidylinositol 4,5-bisphosphate (4,5)P2.
24814232 Our observation of the discordant audiologic phenotype within the same DFNB9 family is more likely due to the loss of OAE over time rather than a genotype-phenotype correlation.
24746455 audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation
24135434 We characterize a novel otoferlin mutation discovered in a sibling pair diagnosed with auditory neuropathy spectrum disorder and investigate auditory nerve function through their cochlear implants.
24053799 The six probable pathogenic variants of OTOF genes were novel: 2 nonsense mutations (p.W717X, p.S1368X) and 4 missense mutations (p.D450E, p.R1583H, p.V1778I, p. E1803A).
24001616 OTOF gene mutataion is found in a Chinese patient with auditory neuropathy spectrum disorder.
23859474 Data indicate that dysferlin, otoferlin, and myoferlin do not merely passively adsorb to membranes but actively sculpt lipid bilayers.
22959777 Otoferlin is a multi-C2 domain protein associated with genetic human deafness. It functions in hair-cell exocytosis. Several otoferlin C2 domains bind to Ca2+, phospholipids, & proteins. Review.
22906306 The study concludes that OTOF mutations are not the major cause of autosomal recessive nonsyndromic hearing loss in the Iranian population.
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AA Sequence

MALLIHLKTVSELRGRGDRIAKVTFRGQSFYSRVLENCEDVADFDETFRWPVASSIDRNEMLEIQVFNYS      1 - 70
KVFSNKLIGTFRMVLQKVVEESHVEVTDTLIDDNNAIIKTSLCVEVRYQATDGTVGSWDDGDFLGDESLQ     71 - 140
EEEKDSQETDGLLPGSRPSSRPPGEKSFRRAGRSVFSAMKLGKNRSHKEEPQRPDEPAVLEMEDLDHLAI    141 - 210
RLGDGLDPDSVSLASVTALTTNVSNKRSKPDIKMEPSAGRPMDYQVSITVIEARQLVGLNMDPVVCVEVG    211 - 280
DDKKYTSMKESTNCPYYNEYFVFDFHVSPDVMFDKIIKISVIHSKNLLRSGTLVGSFKMDVGTVYSQPEH    281 - 350
QFHHKWAILSDPDDISSGLKGYVKCDVAVVGKGDNIKTPHKANETDEDDIEGNLLLPEGVPPERQWARFY    351 - 420
VKIYRAEGLPRMNTSLMANVKKAFIGENKDLVDPYVQVFFAGQKGKTSVQKSSYEPLWNEQVVFTDLFPP    421 - 490
LCKRMKVQIRDSDKVNDVAIGTHFIDLRKISNDGDKGFLPTLGPAWVNMYGSTRNYTLLDEHQDLNEGLG    491 - 560
EGVSFRARLLLGLAVEIVDTSNPELTSSTEVQVEQATPISESCAGKMEEFFLFGAFLEASMIDRRNGDKP    561 - 630
ITFEVTIGNYGNEVDGLSRPQRPRPRKEPGDEEEVDLIQNASDDEAGDAGDLASVSSTPPMRPQVTDRNY    631 - 700
FHLPYLERKPCIYIKSWWPDQRRRLYNANIMDHIADKLEEGLNDIQEMIKTEKSYPERRLRGVLEELSCG    701 - 770
CCRFLSLADKDQGHSSRTRLDRERLKSCMRELENMGQQARMLRAQVKRHTVRDKLRLCQNFLQKLRFLAD    771 - 840
EPQHSIPDIFIWMMSNNKRVAYARVPSKDLLFSIVEEETGKDCAKVKTLFLKLPGKRGFGSAGWTVQAKV    841 - 910
ELYLWLGLSKQRKEFLCGLPCGFQEVKAAQGLGLHAFPPVSLVYTKKQAFQLRAHMYQARSLFAADSSGL    911 - 980
SDPFARVFFINQSQCTEVLNETLCPTWDQMLVFDNLELYGEAHELRDDPPIIVIEIYDQDSMGKADFMGR    981 - 1050
TFAKPLVKMADEAYCPPRFPPQLEYYQIYRGNATAGDLLAAFELLQIGPAGKADLPPINGPVDVDRGPIM   1051 - 1120
PVPMGIRPVLSKYRVEVLFWGLRDLKRVNLAQVDRPRVDIECAGKGVQSSLIHNYKKNPNFNTLVKWFEV   1121 - 1190
DLPENELLHPPLNIRVVDCRAFGRYTLVGSHAVSSLRRFIYRPPDRSAPSWNTTVRLLRRCRVLCNGGSS   1191 - 1260
SHSTGEVVVTMEPEVPIKKLETMVKLDATSEAVVKVDVAEEEKEKKKKKKGTAEEPEEEEPDESMLDWWS   1261 - 1330
KYFASIDTMKEQLRQQEPSGIDLEEKEEVDNTEGLKGSMKGKEKARAAKEEKKKKTQSSGSGQGSEAPEK   1331 - 1400
KKPKIDELKVYPKELESEFDNFEDWLHTFNLLRGKTGDDEDGSTEEERIVGRFKGSLCVYKVPLPEDVSR   1401 - 1470
EAGYDSTYGMFQGIPSNDPINVLVRVYVVRATDLHPADINGKADPYIAIRLGKTDIRDKENYISKQLNPV   1471 - 1540
FGKSFDIEASFPMESMLTVAVYDWDLVGTDDLIGETKIDLENRFYSKHRATCGIAQTYSTHGYNIWRDPM   1541 - 1610
KPSQILTRLCKDGKVDGPHFGPPGRVKVANRVFTGPSEIEDENGQRKPTDEHVALLALRHWEDIPRAGCR   1611 - 1680
LVPEHVETRPLLNPDKPGIEQGRLELWVDMFPMDMPAPGTPLDISPRKPKKYELRVIIWNTDEVVLEDDD   1681 - 1750
FFTGEKSSDIFVRGWLKGQQEDKQDTDVHYHSLTGEGNFNWRYLFPFDYLAAEEKIVISKKESMFSWDET   1751 - 1820
EYKIPARLTLQIWDADHFSADDFLGAIELDLNRFPRGAKTAKQCTMEMATGEVDVPLVSIFKQKRVKGWW   1821 - 1890
PLLARNENDEFELTGKVEAELHLLTAEEAEKNPVGLARNEPDPLEKPNRPDTSFIWFLNPLKSARYFLWH   1891 - 1960
TYRWLLLKLLLLLLLLLLLALFLYSVPGYLVKKILGA                                    1961 - 1997
//

Text Mined References (42)

PMID Year Title
27082237 2016 Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
24999532 2014 Characterization of the lipid binding properties of Otoferlin reveals specific interactions between PI(4,5)P2 and the C2C and C2F domains.
24814232 2014 Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.
24746455 2014 Evidence for genotype-phenotype correlation for OTOF mutations.
24135434 2013 A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder.
24053799 2013 OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
24001616 2013 Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder.
23859474 2013 The C2 domains of otoferlin, dysferlin, and myoferlin alter the packing of lipid bilayers.
23319000 2014 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
22959777 2012 Otoferlin: a multi-C2 domain protein essential for hearing.
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