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OTOA
Identifiers
Aliases	OTOA, CT108, DFNB22, otoancorin
External IDs	OMIM: 607038; MGI: 2149209; HomoloGene: 71803; GeneCards: OTOA; OMA:OTOA - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16p12.2|16p12.2 Start 21,663,968 bp End 21,761,935 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 F2 Start 120,680,873 bp End 120,762,320 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad left testis right testis spleen prefrontal cortex primary visual cortex bone marrow lymph node superior frontal gyrus Brodmann area 9 Top expressed in vestibular sensory epithelium vestibular membrane of cochlear duct utricle lumbar spinal ganglion saccule zygote secondary oocyte morula cochlea primary oocyte More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 146183 246190 Ensembl ENSG00000155719 ENSMUSG00000034990 UniProt Q7RTW8 Q8K561 RefSeq (mRNA) NM_001161683 NM_144672 NM_170664 NM_139310 RefSeq (protein) NP_001155155 NP_653273 NP_733764 NP_647471 Location (UCSC) Chr 16: 21.66 – 21.76 Mb Chr 7: 120.68 – 120.76 Mb PubMed search
Wikidata
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Otoancorin is a protein found in the vertebrate inner ear, on the sensory epithelia where it connects to the gel matrix.

Otoancorin is found in the cochlea, utricule, saccule, and under the cupulae on the surface of apical dells in the sensory epithelia.

In humans the gene that encodes otoancorin is called OTOA. It is on chromosome 16p12.2 and contains 28 exons. A recessive mutation in this gene called IVS12+2T>C results in deafness. The human protein has 1,153 amino acids.

In the mouse, this protein has 1088 amino acids. In mice otoancorin is needed to attach the tectorial membrane to the inner hair cells in the cochlea.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000155719 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000034990 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Deans MR, Peterson JM, Wong GW (September 2010). "Mammalian Otolin: a multimeric glycoprotein specific to the inner ear that interacts with otoconial matrix protein Otoconin-90 and Cerebellin-1". PLOS ONE. 5 (9): e12765. Bibcode:2010PLoSO...512765D. doi:10.1371/journal.pone.0012765. PMC 2939893. PMID 20856818.
6. ^ Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, et al. (April 2002). "Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22". Proceedings of the National Academy of Sciences of the United States of America. 99 (9): 6240–5. Bibcode:2002PNAS...99.6240Z. doi:10.1073/pnas.082515999. PMC 122933. PMID 11972037.
7. Weddell T, Legan PK, Lukashkina VA, Goodyear RJ, Welstead L, Petit C, et al. (2011). "Otoancorin Knockout Mice Reveal Inertia is the Force for Hearing". American Institute of Physics Conference Series. AIP Conference Proceedings. 1403 (1): 139–140. Bibcode:2011AIPC.1403..139W. doi:10.1063/1.3658074.

• Genes on human chromosome 16