OTOF
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| Otoferlin | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | OTOF; AUNB1; DFNB6; DFNB9; FER1L2; NSRD9 | ||||||||||||
| External IDs | OMIM: 603681 MGI: 1891247 HomoloGene: 12892 GeneCards: OTOF Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 9381 | 83762 | |||||||||||
| Ensembl | ENSG00000115155 | ENSMUSG00000062372 | |||||||||||
| UniProt | Q9HC10 | Q8CCE7 | |||||||||||
| RefSeq (mRNA) | NM_004802.3 | NM_031875 | |||||||||||
| RefSeq (protein) | NP_004793.2 | NP_114081 | |||||||||||
| Location (UCSC) | Chr 2: 26.68 – 26.78 Mb |
Chr 5: 30.67 – 30.76 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Otoferlin is a protein that in humans is encoded by the OTOF gene.[1][2][3]
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.[3]
References
- ^ Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (Apr 1999). "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness". Nat Genet 21 (4): 363–9. doi:10.1038/7693. PMID 10192385.
- ^ Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedin S, Smith J, Cruz Tapia M, Cavalle L, Gelvez N, Primignani P, Gomez-Rosas E, Martin M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I (May 2008). "A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy". Hum Mutat 29 (6): 823–31. doi:10.1002/humu.20708. PMID 18381613.
- ^ a b "Entrez Gene: OTOF otoferlin". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9381.
External links
Further reading
- Fukushima K, Ramesh A, Srisailapathy CR et al. (1996). "An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6". Genome Res. 5 (3): 305–8. doi:10.1101/gr.5.3.305. PMID 8593615.
- Yasunaga S, Petit C (2000). "Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23". Genomics 66 (1): 110–2. doi:10.1006/geno.2000.6185. PMID 10843812.
- Adato A, Raskin L, Petit C, Bonne-Tamir B (2000). "Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus". Eur. J. Hum. Genet. 8 (6): 437–42. doi:10.1038/sj.ejhg.5200489. PMID 10878664.
- Yasunaga S, Grati M, Chardenoux S et al. (2000). "OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9". Am. J. Hum. Genet. 67 (3): 591–600. doi:10.1086/303049. PMC 1287519. PMID 10903124. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1287519.
- Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA et al. (2002). "Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss". J. Med. Genet. 39 (7): 502–6. doi:10.1136/jmg.39.7.502. PMC 1735186. PMID 12114484. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735186.
- Mirghomizadeh F, Pfister M, Apaydin F et al. (2002). "Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness". Neurobiol. Dis. 10 (2): 157–64. doi:10.1006/nbdi.2002.0488. PMID 12127154.
- Mirghomizadeh F, Pfister M, Blin N, Pusch CM (2003). "Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene". Int. J. Mol. Med. 11 (1): 63–4. PMID 12469219.
- Varga R, Kelley PM, Keats BJ et al. (2003). "Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene". J. Med. Genet. 40 (1): 45–50. doi:10.1136/jmg.40.1.45. PMC 1735255. PMID 12525542. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735255.
- Piechotta K, Garbarini N, England R, Delpire E (2004). "Characterization of the interaction of the stress kinase SPAK with the Na+-K+-2Cl- cotransporter in the nervous system: evidence for a scaffolding role of the kinase". J. Biol. Chem. 278 (52): 52848–56. doi:10.1074/jbc.M309436200. PMID 14563843.
- Varga R, Avenarius MR, Kelley PM et al. (2006). "OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele". J. Med. Genet. 43 (7): 576–81. doi:10.1136/jmg.2005.038612. PMC 2593030. PMID 16371502. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2593030.
- Roux I, Safieddine S, Nouvian R et al. (2006). "Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse". Cell 127 (2): 277–89. doi:10.1016/j.cell.2006.08.040. PMID 17055430.
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