| HGNC Family | C2 domain containing |
| Name | otoferlin |
| Description | Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nOtoferlin is a large, multi‐C2 domain protein that plays a pivotal role as the calcium (Ca²⁺) sensor at the synaptic ribbon of auditory inner hair cells, where it is essential for rapid, Ca²⁺‐triggered synaptic vesicle fusion and neurotransmitter release. Its molecular architecture, featuring several Ca²⁺‐binding C2 domains and a single transmembrane region, enables it to bind Ca²⁺ as well as directly interact with key SNARE proteins (syntaxin1 and SNAP25) and L-type Ca²⁺ channels. These interactions are crucial for orchestrating both the priming and fusion of synaptic vesicles, thereby ensuring high temporal precision in sound encoding."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in OTOF underlie the DFNB9 subtype of recessive, nonsyndromic hearing loss and auditory neuropathy, typically presenting as profound, prelingual deafness that may exhibit temperature‐sensitive phenotypes and variable audiologic profiles. Detailed genotype–phenotype correlation studies have demonstrated that pathogenic variants—ranging from missense changes to truncating mutations—can impair otoferlin’s ability to sense Ca²⁺ and interact with its binding partners, leading to reduced exocytosis in inner hair cells. In addition, therapeutic strategies including dual adeno‐associated virus (AAV)–mediated gene replacement have shown promise in restoring otoferlin expression and function, offering a potential route toward treating DFNB9."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "25"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its core role as a Ca²⁺ sensor, the precise regulation of otoferlin’s interaction with phospholipids, SNARE proteins, and Ca²⁺ channels is aided by its individual C2 domains, which can exhibit both Ca²⁺‐dependent and –independent membrane binding properties. These features ensure proper targeting to the synaptic active zone and may contribute to the regulation of synaptic vesicle size and replenishment. Advanced biochemical and imaging studies, as well as investigations into the TRC40-mediated ER insertion pathway for tail-anchored proteins, have further refined our understanding of otoferlin’s membrane interactions and scaffolding functions in the inner ear."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "26", "end_ref": "35"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional studies have expanded the diagnostic and functional landscape of OTOF mutations by highlighting its evolutionary conservation across species and by refining molecular testing strategies to better identify OTOF‐associated auditory neuropathy. These investigations underscore the variable clinical manifestations—ranging from temperature‐sensitive hearing loss to differences in auditory nerve responsiveness—and support ongoing efforts to integrate genetic diagnostics with precision therapies such as cochlear implantation and gene replacement approaches."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "36"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "S Yasunaga, M Grati, M Cohen-Salmon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (1999)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/7693"}], "href": "https://doi.org/10.1038/7693"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "10192385"}], "href": "https://pubmed.ncbi.nlm.nih.gov/10192385"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Isabelle Roux, Saaid Safieddine, Régis Nouvian, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2006.08.040"}], "href": "https://doi.org/10.1016/j.cell.2006.08.040"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17055430"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17055430"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Neeliyath A Ramakrishnan, Marian J Drescher, Dennis G Drescher "}, {"type": "b", "children": [{"type": "t", "text": "Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M803605200"}], "href": "https://doi.org/10.1074/jbc.M803605200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19004828"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19004828"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "B Y Choi, Z M Ahmed, S Riazuddin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2008.01128.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2008.01128.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19250381"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19250381"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Tina Pangršič, Ellen Reisinger, Tobias Moser "}, {"type": "b", "children": [{"type": "t", "text": "Otoferlin: a multi-C2 domain protein essential for hearing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Trends Neurosci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.tins.2012.08.002"}], "href": "https://doi.org/10.1016/j.tins.2012.08.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22959777"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22959777"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Naomi J Marty, Chelsea L Holman, Nazish Abdullah, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The C2 domains of otoferlin, dysferlin, and myoferlin alter the packing of lipid bilayers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi400432f"}], "href": "https://doi.org/10.1021/bi400432f"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23859474"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23859474"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Murugesh Padmanarayana, Nicole Hams, Lee C Speight, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of the lipid binding properties of Otoferlin reveals specific interactions between PI(4,5)P2 and the C2C and C2F domains."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi5004469"}], "href": "https://doi.org/10.1021/bi5004469"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24999532"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24999532"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Christian Vogl, Iliana Panou, Gulnara Yamanbaeva, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/embj.201593565"}], "href": "https://doi.org/10.15252/embj.201593565"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27458190"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27458190"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Nicole Hams, Murugesh Padmanarayana, Weihong Qiu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Otoferlin is a multivalent calcium-sensitive scaffold linking SNAREs and calcium channels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1703240114"}], "href": "https://doi.org/10.1073/pnas.1703240114"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28696301"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28696301"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "F Mirghomizadeh, M Pfister, F Apaydin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1006/nbdi.2002.0488"}], "href": "https://doi.org/10.1006/nbdi.2002.0488"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12127154"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12127154"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Montserrat Rodríguez-Ballesteros, Francisco J del Castillo, Yolanda Martín, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.10274"}], "href": "https://doi.org/10.1002/humu.10274"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14635104"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14635104"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "R Varga, M R Avenarius, P M Kelley, et al. "}, {"type": "b", "children": [{"type": "t", "text": "OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2005.038612"}], "href": "https://doi.org/10.1136/jmg.2005.038612"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16371502"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16371502"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Montserrat Rodríguez-Ballesteros, Raúl Reynoso, Margarita Olarte, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20708"}], "href": "https://doi.org/10.1002/humu.20708"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18381613"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18381613"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Jihane Romanos, Lilian Kimura, Mariana Lopes Fávero, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel OTOF mutations in Brazilian patients with auditory neuropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jhg.2009.45"}], "href": "https://doi.org/10.1038/jhg.2009.45"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19461658"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19461658"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Rosamaria Santarelli, Ignacio Del Castillo, Montserrat Rodríguez-Ballesteros, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Assoc Res Otolaryngol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10162-009-0181-z"}], "href": "https://doi.org/10.1007/s10162-009-0181-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19636622"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19636622"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Yu-Hsun Chiu, Chen-Chi Wu, Ying-Chang Lu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Audiol Neurootol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000293992"}], "href": "https://doi.org/10.1159/000293992"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20224275"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20224275"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Sandrine Marlin, Delphine Feldmann, Yann Nguyen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2010.03.062"}], "href": "https://doi.org/10.1016/j.bbrc.2010.03.062"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20230791"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20230791"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Da-Yong Wang, Yi-Chen Wang, Dominique Weil, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2350-11-79"}], "href": "https://doi.org/10.1186/1471-2350-11-79"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20504331"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20504331"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "T Matsunaga, H Mutai, S Kunishima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2012.01897.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2012.01897.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22575033"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22575033"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Q-J Zhang, B Han, L Lan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.12744"}], "href": "https://doi.org/10.1111/cge.12744"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26818607"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26818607"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Nicola Strenzke, Rituparna Chakrabarti, Hanan Al-Moyed, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/embj.201694564"}], "href": "https://doi.org/10.15252/embj.201694564"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27729456"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27729456"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Omar Akil, Frank Dyka, Charlotte Calvet, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1817537116"}], "href": "https://doi.org/10.1073/pnas.1817537116"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30782832"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30782832"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Yoh-Ichiro Iwasa, Shin-Ya Nishio, Akiko Sugaya, et al. "}, {"type": "b", "children": [{"type": "t", "text": "OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0215932"}], "href": "https://doi.org/10.1371/journal.pone.0215932"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31095577"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31095577"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Barbara Vona, Aboulfazl Rad, Ellen Reisinger "}, {"type": "b", "children": [{"type": "t", "text": "The Many Faces of DFNB9: Relating "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "OTOF"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Variants to Hearing Impairment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes (Basel) (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/genes11121411"}], "href": "https://doi.org/10.3390/genes11121411"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33256196"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33256196"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Honghai Tang, Hui Wang, Shengyi Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-022-02504-2"}], "href": "https://doi.org/10.1007/s00439-022-02504-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36383253"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36383253"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Nejat Mahdieh, Atefeh Shirkavand, Bahareh Rabbani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Screening of OTOF mutations in Iran: a novel mutation and review."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Pediatr Otorhinolaryngol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijporl.2012.07.030"}], "href": "https://doi.org/10.1016/j.ijporl.2012.07.030"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22906306"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22906306"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Yoh-ichiro Iwasa, Shin-ya Nishio, Hidekane Yoshimura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "OTOF mutation screening in Japanese severe to profound recessive hearing loss patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2350-14-95"}], "href": "https://doi.org/10.1186/1471-2350-14-95"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24053799"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24053799"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Nadia M Al-Wardy, Mohammed N Al-Kindi, Mazin J Al-Khabouri, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Saudi Med J (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15537/smj.2016.10.14967"}], "href": "https://doi.org/10.15537/smj.2016.10.14967"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27652356"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27652356"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Fengzhu Tang, Dengke Ma, Yulan Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12881-017-0400-0"}], "href": "https://doi.org/10.1186/s12881-017-0400-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28335750"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28335750"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Nishtha Pandey, Tabassum Rashid, Rajeev Jalvi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "OTOF, CLDN14"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " & "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "SLC26A4"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Indian J Med Res (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4103/ijmr.IJMR_635_15"}], "href": "https://doi.org/10.4103/ijmr.IJMR_635_15"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29434063"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29434063"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Faraz M Harsini, Sukanya Chebrolu, Kerry L Fuson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-018-29184-1"}], "href": "https://doi.org/10.1038/s41598-018-29184-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30026467"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30026467"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "Yanfei Wang, Yu Lu, Jing Cheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Otolaryngol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/00016489.2018.1476777"}], "href": "https://doi.org/10.1080/00016489.2018.1476777"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30073893"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30073893"}]}, {"type": "r", "ref": 33, "children": [{"type": "t", "text": "Kaitian Chen, Min Liu, Xuan Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Pediatr Otorhinolaryngol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijporl.2018.09.008"}], "href": "https://doi.org/10.1016/j.ijporl.2018.09.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30368385"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30368385"}]}, {"type": "r", "ref": 34, "children": [{"type": "t", "text": "M R Lalayants, O L Mironovich, E A Bliznets, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[OTOF-related auditory neuropathy spectrum disorder]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Vestn Otorinolaringol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.17116/otorino20208502121"}], "href": "https://doi.org/10.17116/otorino20208502121"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32476384"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32476384"}]}, {"type": "r", "ref": 35, "children": [{"type": "t", "text": "Ryan K Thorpe, Hela Azaiez, Peina Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-021-02340-w"}], "href": "https://doi.org/10.1007/s00439-021-02340-w"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34424407"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34424407"}]}, {"type": "r", "ref": 36, "children": [{"type": "t", "text": "W E Achanzar, S Ward "}, {"type": "b", "children": [{"type": "t", "text": "A nematode gene required for sperm vesicle fusion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (1997)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.110.9.1073"}], "href": "https://doi.org/10.1242/jcs.110.9.1073"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "9175703"}], "href": "https://pubmed.ncbi.nlm.nih.gov/9175703"}]}, {"type": "r", "ref": 37, "children": [{"type": "t", "text": "Cristina Zadro, Andrea Ciorba, Annalisa Fabris, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Five new OTOF gene mutations and auditory neuropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Pediatr Otorhinolaryngol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijporl.2010.02.004"}], "href": "https://doi.org/10.1016/j.ijporl.2010.02.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20211493"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20211493"}]}]}]}
|
| Synonyms | NSRD9, FER1L2, AUNB1, DFNB9 |
| Proteins | OTOF_HUMAN |
| NCBI Gene ID | 9381 |
| API | |
| Download Associations | |
| Predicted Functions |
 |
| Co-expressed Genes |
|
| Expression in Tissues and Cell Lines |
|
OTOF has 4,074 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 104 datasets.
Click the + buttons to view associations for OTOF from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of OTOF gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of OTOF gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of OTOF gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of OTOF gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of OTOF gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of OTOF gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of OTOF gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of OTOF gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of OTOF gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of OTOF gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with OTOF gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of OTOF gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of OTOF gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of OTOF gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with OTOF gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of OTOF gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing OTOF protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing OTOF protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with OTOF protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with OTOF protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of OTOF gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with OTOF gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with OTOF gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| CTD Gene-Disease Associations | diseases associated with OTOF gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by OTOF gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving OTOF gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving OTOF gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with OTOF gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with OTOF gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with OTOF gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with OTOF gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at OTOF gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of OTOF gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of OTOF gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing OTOF from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GAD Gene-Disease Associations | diseases associated with OTOF gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GAD High Level Gene-Disease Associations | diseases associated with OTOF gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
| GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of OTOF gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with OTOF gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing OTOF from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of OTOF gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of OTOF gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of OTOF gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of OTOF gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of OTOF gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of OTOF gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving OTOF gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving OTOF gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving OTOF gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing OTOF protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing OTOF protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing OTOF protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by OTOF gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by OTOF gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by OTOF gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of OTOF gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of OTOF gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of OTOF gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of OTOF gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of OTOF gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations | phenotypes associated with OTOF gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with OTOF gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with OTOF gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of OTOF gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of OTOF gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of OTOF gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of OTOF protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of OTOF gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPM Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of OTOF protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with OTOF gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| HuBMAP Azimuth Cell Type Annotations | cell types associated with OTOF gene from the HuBMAP Azimuth Cell Type Annotations dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with OTOF gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for OTOF protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of OTOF gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of OTOF gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with OTOF gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of OTOF gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of OTOF gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LOCATE Curated Protein Localization Annotations | cellular components containing OTOF protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain OTOF protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by OTOF gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of OTOF gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by OTOF gene mutations from the MPO Gene-Phenotype Associations dataset. | |
| NURSA Protein Complexes | protein complexs containing OTOF protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with OTOF gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for OTOF from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of OTOF gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of OTOF gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving OTOF protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving OTOF protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2024 | pathways involving OTOF protein from the Reactome Pathways 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of OTOF gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at OTOF gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of OTOF gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of OTOF gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| SynGO Synaptic Gene Annotations | synaptic terms associated with OTOF gene from the SynGO Synaptic Gene Annotations dataset. | |
| Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of OTOF gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of OTOF gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of OTOF gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of OTOF gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of OTOF protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of OTOF protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with OTOF protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with OTOF protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
