Gene
otofa
- ID
- ZDB-GENE-030131-7778
- Name
- otoferlin a
- Symbol
- otofa Nomenclature History
- Previous Names
-
- otof
- fj34b10
- si:dkey-181f18.3
- wu:fj34b10
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable AP-2 adaptor complex binding activity and calcium ion binding activity. Acts upstream of or within several processes, including response to auditory stimulus; sensory perception of sound; and startle response. Predicted to be located in trans-Golgi network. Predicted to be active in presynaptic active zone membrane and synaptic vesicle membrane. Is expressed in nervous system; otic vesicle; and trigeminal placode. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 9. Orthologous to human OTOF (otoferlin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7162231 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Chatterjee et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| idc19 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sa17391 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18571 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23735 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23736 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43473 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-otofa | Zebrafish Nomenclature Committee | |
| MO1-otofa | N/A | (2) |
| MO2-otofa | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 9 | Alliance | Auditory neuropathy, autosomal recessive, 1 | 601071 |
| autosomal recessive nonsyndromic deafness 9 | Alliance | Deafness, autosomal recessive 9 | 601071 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | C2 domain | C2 domain superfamily | FerIin domain | Ferlin B-domain | Ferlin, C-terminal domain | Ferlin, dsRNA-binding domain-like domain | Ferlin family | Ferlin, fifth C2 domain | Ferlin, first C2 domain | Ferlin, fourth C2 domain | Ferlin, second C2 domain | Ferlin, sixth C2 domain | Ferlin, third C2 domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AT93 | InterPro | 2046 | |||||||||||||
| UniProtKB:A0A8M3B468 | InterPro | 1994 | |||||||||||||
| UniProtKB:X1WB77 | InterPro | 1992 | |||||||||||||
| UniProtKB:A0A8M3AT99 | InterPro | 2022 | |||||||||||||
| UniProtKB:A0A8M9PPD5 | InterPro | 2036 |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-otof | monoclonal | IgG2a | Mouse |
|
Developmental Studies Hybridoma Bank
|
48 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-198B3 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-181F18 | ZFIN Curated Data | |
| Encodes | EST | fj34b10 | ||
| Encodes | EST | IMAGE:7162231 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001030112 (1) | 5979 nt | ||
| Genomic | GenBank:AL929014 (1) | 163523 nt | ||
| Polypeptide | UniProtKB:A0A8M3AKW3 (1) | 2046 aa |
- Jędrychowska, J., Vardanyan, V., Wieczor, M., Marciniak, A., Czub, J., Amini, R., Jain, R., Shen, H., Choi, H., Kuznicki, J., Korzh, V. (2024) Mutant analysis of Kcng4b reveals how the different functional states of the voltage-gated potassium channel regulate ear development. Developmental Biology. 513:50-62
- Manchanda, A., Bonventre, J.A., Bugel, S.M., Chatterjee, P., Tanguay, R., Johnson, C.P. (2021) Truncation of the otoferlin transmembrane domain alters the development of hair cells and reduces membrane docking. Molecular biology of the cell. 32(14):1293-1305
- Cheng, X.N., Zhang, J.J., Shi, D.L. (2020) Loss of Rbm24a causes defective hair cell development in the zebrafish inner ear and neuromasts. Journal of genetics and genomics = Yi chuan xue bao. 47(7):403-406
- Jedrychowska, J., Gasanov, E.V., Korzh, V. (2020) Kcnb1 plays a role in development of the inner ear. Developmental Biology. 471:65-75
- Manchanda, A., Chatterjee, P., Bonventre, J.A., Haggard, D.E., Kindt, K.S., Tanguay, R.L., Johnson, C.P. (2019) Otoferlin Depletion Results in Abnormal Synaptic Ribbons and Altered Intracellular Calcium Levels in Zebrafish. Scientific Reports. 9:14273
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Vogl, C., Panou, I., Yamanbaeva, G., Wichmann, C., Mangosing, S.J., Vilardi, F., Indzhykulian, A.A., Pangršič, T., Santarelli, R., Rodriguez-Ballesteros, M., Weber, T., Jung, S., Cardenas, E., Wu, X., Wojcik, S.M., Kwan, K.Y., Del Castillo, I., Schwappach, B., Strenzke, N., Corey, D.P., Lin, S.Y., Moser, T. (2016) Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing. The EMBO journal. 35(23):2536-2552
- Chatterjee, P., Padmanarayana, M., Abdullah, N., Holman, C.L., LaDu, J., Tanguay, R.L., Johnson, C.P. (2015) Otoferlin Deficiency In Zebrafish Results In Defects In Balance And Hearing: Rescue Of The Balance And Hearing Phenotype With Full-length And Truncated Forms Of Mouse Otoferlin. Molecular and cellular biology. 35(6):1043-54
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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