Otoferlin
protein-coding gene in the species Homo sapiens
Otoferlin is a protein that in humans is encoded by the OTOF gene.
Function
There are two forms of otoferlin protein. The short form of the protein has three C2 domains and a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin. The long form has six C2 domains.
Dysferlin and myoferlin are proteins found in humans that are homologous to otoferlin. Both dysferlin and myoferlin have seven C2 domains. A C2 domain is a protein structural domain involved in targeting proteins to cell membranes.
C2A in otoferlin's longer form, with six C2 domains, is structurally similar to dysferlin C2A. However, loop 1 in the calcium (Ca2+) binding site of otoferlin C2A is significantly shorter than the homologous loop in dysferlin and myoferlin C2A domains. Therefore, it is unable to bind to calcium. Otoferlin C2A is also unable to bind to phospholipids and hence it is structurally and functionally distinct from other C2 domains.
Begin with the source’s own compact description: “Otoferlin” is protein-coding gene in the species Homo sapiens. The dossier treats that line as a proposition to test through Otoferlin, protein-coding and gene, not as a finished interpretation.
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The phrase “protein-coding gene in the species Homo sapiens” supplies a clear boundary for inquiry. It also exposes the unanswered questions: who defined that boundary, when it became stable and which sources sit outside it.
Datasets, specimens, observations and peer-reviewed methods provide the appropriate test for the technical claims summarized here. The source revision retrieved here is dated Sep 21, 2026. The linked authority identifier is Q18034048. None of the 0 selected statements returned an explicit reference.
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This entry incorporates text from “Otoferlin” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.