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| # | Reference Title | Reference Citation |
| 1. | Thyroid hormone deficiency affects postnatal spiking activity and expression of Ca2+ and K+ channels in rodent inner hair cells. | Brandt N, etal., J Neurosci. 2007 Mar 21;27(12):3174-86. |
| 2. | Otoferlin couples to clathrin-mediated endocytosis in mature cochlear inner hair cells. | Duncker SV, etal., J Neurosci. 2013 May 29;33(22):9508-19. doi: 10.1523/JNEUROSCI.5689-12.2013. |
| 3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form. | Heidrych P, etal., Hum Mol Genet. 2008 Dec 1;17(23):3814-21. doi: 10.1093/hmg/ddn279. Epub 2008 Sep 4. |
| 5. | A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9. | Longo-Guess C, etal., Hear Res. 2007 Dec;234(1-2):21-8. Epub 2007 Sep 29. |
| 6. | Screening of OTOF mutations in Iran: a novel mutation and review. | Mahdieh N, etal., Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1610-5. doi: 10.1016/j.ijporl.2012.07.030. Epub 2012 Aug 18. |
| 7. | Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! | Marlin S, etal., Biochem Biophys Res Commun. 2010 Apr 9;394(3):737-42. doi: 10.1016/j.bbrc.2010.03.062. Epub 2010 Mar 16. |
| 8. | A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. | Matsunaga T, etal., Clin Genet. 2012 Nov;82(5):425-32. doi: 10.1111/j.1399-0004.2012.01897.x. Epub 2012 Jun 1. |
| 9. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 10. | Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. | Migliosi V, etal., J Med Genet. 2002 Jul;39(7):502-6. |
| 11. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 12. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 13. | Online Mendelian Inheritance in Man, OMIM (TM). | Online Mendelian Inheritance in Man, OMIM (TM). |
| 14. | GOA pipeline | RGD automated data pipeline |
| 15. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 16. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 17. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 18. | Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). | Rodriguez-Ballesteros M, etal., Hum Mutat. 2003 Dec;22(6):451-6. |
| 19. | Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. | Roux I, etal., Cell. 2006 Oct 20;127(2):277-89. |
| 20. | The auditory hair cell ribbon synapse: from assembly to function. | Safieddine S, etal., Annu Rev Neurosci. 2012;35:509-28. doi: 10.1146/annurev-neuro-061010-113705. |
| 21. | Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat. | Schug N, etal., Eur J Neurosci. 2006 Dec;24(12):3372-80. |
| 22. | A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. | Tekin M, etal., Am J Med Genet A. 2005 Sep 15;138(1):6-10. |
| 23. | OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. | Yasunaga S, etal., Am J Hum Genet 2000 Sep;67(3):591-600. Epub 2000 Jul 19. |
| 24. | A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. | Yasunaga S, etal., Nat Genet. 1999 Apr;21(4):363-9. |
| PMID:15632090 | PMID:18287496 | PMID:20562868 | PMID:21216247 | PMID:24478316 | PMID:25609709 | PMID:25701657 | PMID:27458190 |
| Otof (Rattus norvegicus - Norway rat) |
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| OTOF (Homo sapiens - human) |
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| Otof (Mus musculus - house mouse) |
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| Otof (Chinchilla lanigera - long-tailed chinchilla) |
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| OTOF (Pan paniscus - bonobo/pygmy chimpanzee) |
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| OTOF (Canis lupus familiaris - dog) |
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| Otof (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| OTOF (Sus scrofa - pig) |
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| OTOF (Chlorocebus sabaeus - green monkey) |
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| Otof (Heterocephalus glaber - naked mole-rat) |
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| Otof (Rattus rattus - black rat) |
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.
Variants in Otof
320 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D6Got19 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8 | 4 | 14 | 124 | 36 | 36 | 13 | 9 | 13 | 6 | 83 | 51 | 9 | 96 | 7 | 53 | 23 | 8 | 8 |
| RefSeq Transcripts | NM_001276720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006239833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008764534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008764535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017594387 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017594388 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039113005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039113006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063262552 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063262553 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063262555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063262556 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063262557 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063262558 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063262559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF315944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH473947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000044278 ⟹ ENSRNOP00000046997 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000091159 ⟹ ENSRNOP00000074490 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000105491 ⟹ ENSRNOP00000078196 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000124771 ⟹ ENSRNOP00000110964 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001276720 ⟹ NP_001263649 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_006239833 ⟹ XP_006239895 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_017594387 ⟹ XP_017449876 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_039113005 ⟹ XP_038968933 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039113006 ⟹ XP_038968934 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063262552 ⟹ XP_063118622 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063262553 ⟹ XP_063118623 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063262555 ⟹ XP_063118625 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063262556 ⟹ XP_063118626 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063262557 ⟹ XP_063118627 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063262558 ⟹ XP_063118628 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063262559 ⟹ XP_063118629 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Protein RefSeqs | NP_001263649 | (Get FASTA) | NCBI Sequence Viewer |
| XP_006239895 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017449876 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038968933 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038968934 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063118622 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063118623 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063118625 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063118626 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063118627 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063118628 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063118629 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAG30298 | (Get FASTA) | NCBI Sequence Viewer |
| EDM02990 | (Get FASTA) | NCBI Sequence Viewer | |
| EDM02991 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000046997 | ||
| ENSRNOP00000046997.2 | |||
| ENSRNOP00000074490 | |||
| ENSRNOP00000110964 | |||
| GenBank Protein | Q9ERC5 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001263649 ⟸ NM_001276720 |
| - UniProtKB: | A0A0G2K867 (UniProtKB/TrEMBL), A6HAD6 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006239895 ⟸ XM_006239833 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | Q9ERC5 (UniProtKB/Swiss-Prot), A6HAD6 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017449876 ⟸ XM_017594387 |
| - Peptide Label: | isoform X8 |
| - UniProtKB: | A6HAD6 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000074490 ⟸ ENSRNOT00000091159 |
| Ensembl Acc Id: | ENSRNOP00000046997 ⟸ ENSRNOT00000044278 |
| RefSeq Acc Id: | XP_038968933 ⟸ XM_039113005 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A6HAD6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038968934 ⟸ XM_039113006 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A6HAD6 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000078196 ⟸ ENSRNOT00000105491 |
| RefSeq Acc Id: | XP_063118623 ⟸ XM_063262553 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A6HAD6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063118622 ⟸ XM_063262552 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A6HAD6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063118627 ⟸ XM_063262557 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | A6HAD6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063118625 ⟸ XM_063262555 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | A0A0G2K867 (UniProtKB/TrEMBL), A6HAD6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063118626 ⟸ XM_063262556 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | A6HAD6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063118628 ⟸ XM_063262558 |
| - Peptide Label: | isoform X7 |
| - UniProtKB: | A6HAD6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063118629 ⟸ XM_063262559 |
| - Peptide Label: | isoform X9 |
| Ensembl Acc Id: | ENSRNOP00000110964 ⟸ ENSRNOT00000124771 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q9ERC5-F1-model_v2 | AlphaFold | Q9ERC5 | 1-1993 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:620646 | AgrOrtholog |
| BioCyc Gene | G2FUF-38309 | BioCyc |
| Ensembl Genes | ENSRNOG00000009967 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000044278 | ENTREZGENE |
| ENSRNOT00000044278.5 | UniProtKB/Swiss-Prot | |
| ENSRNOT00000091159 | ENTREZGENE | |
| ENSRNOT00000124771 | ENTREZGENE | |
| Gene3D-CATH | 2.60.40.150 | UniProtKB/Swiss-Prot |
| InterPro | C2_dom | UniProtKB/Swiss-Prot |
| C2_domain_sf | UniProtKB/Swiss-Prot | |
| C2A_Ferlin | UniProtKB/Swiss-Prot | |
| C2B_Ferlin | UniProtKB/Swiss-Prot | |
| C2C_Ferlin | UniProtKB/Swiss-Prot | |
| C2D_Ferlin | UniProtKB/Swiss-Prot | |
| C2E_Ferlin | UniProtKB/Swiss-Prot | |
| C2F_Ferlin | UniProtKB/Swiss-Prot | |
| FerIin_dom | UniProtKB/Swiss-Prot | |
| Ferlin | UniProtKB/Swiss-Prot | |
| Ferlin_B-domain | UniProtKB/Swiss-Prot | |
| Ferlin_C | UniProtKB/Swiss-Prot | |
| Ferlin_DSRM | UniProtKB/Swiss-Prot | |
| NCBI Gene | 84573 | ENTREZGENE |
| PANTHER | PTHR12546 | UniProtKB/Swiss-Prot |
| PTHR12546:SF32 | UniProtKB/Swiss-Prot | |
| Pfam | dsrm_Ferlin | UniProtKB/Swiss-Prot |
| FerB | UniProtKB/Swiss-Prot | |
| FerI | UniProtKB/Swiss-Prot | |
| Ferlin_C | UniProtKB/Swiss-Prot | |
| PF00168 | UniProtKB/Swiss-Prot | |
| PhenoGen | Otof | PhenoGen |
| PRINTS | C2DOMAIN | UniProtKB/Swiss-Prot |
| PROSITE | PS50004 | UniProtKB/Swiss-Prot |
| RatGTEx | ENSRNOG00000009967 | RatGTEx |
| SMART | FerB | UniProtKB/Swiss-Prot |
| FerI | UniProtKB/Swiss-Prot | |
| SM00239 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF49562 | UniProtKB/Swiss-Prot |
| UniProt | A0A0G2K867 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A8I5Y9Z3_RAT | UniProtKB/TrEMBL | |
| A0ABK0M5P8_RAT | UniProtKB/TrEMBL | |
| A6HAD6 | ENTREZGENE, UniProtKB/TrEMBL | |
| OTOF_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2004-09-10 | Otof | otoferlin | Symbol and Name status set to approved | 1299863 | APPROVED | ||
| 2002-08-07 | Otof | otoferlin | Symbol and Name status set to provisional | 70820 | PROVISIONAL |