Viewing Gene With DrugMatrix Data

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Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/
Symbol: OTOF
Name: otoferlin
Location: 02p23.3
Locus Group: protein-coding gene
Gene Type: Protein Coding
Locus Type: gene with protein product
ID+ Clinical Trials CompTox DrugMatrix Conditions Design Enrollment Locations Outcomes
DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
Gene | Activity | Annotation | GO | Identifier | Pathway | Signature | Simple | Tissue
Target | Accession | Expression | Synonym | Pathway Gene | Gene Platform | Pathway Target
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: otoferlin
Symbol:
View DrugMatrix Gene Data
Species: 1000
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.