Alternative titles; symbols
HGNC Approved Gene Symbol: OTOS
Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38) : 2:240,139,026-240,140,658 (from NCBI)
Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003).
By searching for homologs of rat Otosp, Lavigne-Rebillard et al. (2003) identified genomic fragments and ESTs containing OTOSP. The deduced 89-amino acid protein contains a signal peptide. The authors also identified an in-frame alternative start site that would result in a protein of 114 amino acids.
Lavigne-Rebillard et al. (2003) determined that the OTOSP gene contains 4 exons. Exon 1 is untranslated and contains a TATAAA box.
By FISH and radiation hybrid analysis, Lavigne-Rebillard et al. (2003) mapped the OTOSP gene to chromosome 2q37.3.
Lavigne-Rebillard, M., Delprat, B., Surget, M.-O., Griffoin, J.-M., Weil, D., Arbones, M., Vincent, R., Hamel, C. P. Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin. Neurogenetics 4: 137-140, 2003. [PubMed: 12687421] [Full Text: https://doi.org/10.1007/s10048-003-0145-0]