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Gene

OTOA

otoancorin

Summary

Cytogenetic location
16p12.2
Coordinates
Chromosome 16: 21,663,968–21,760,729 (GRCh38)
Exons
29 exons across 96.8 kb
Protein
1,139 amino acids
Also known as
CT108
Previous symbols
DFNB22
MANE Select transcript
ENST00000646100.2NM_144672.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Hearing Loss and Deafness

      • Nonsyndromic Genetic Hearing Loss

        One of 97 genes linked to it

        Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong
        Actionability

        Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

    How OTOA is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 16, with a bracket where OTOA sits. OTOA and 13 genes near it on chromosome 16, from 21,212,349 to 22,212,348.Chromosome 1616p12.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.321.4 Mb21.6 Mb21.8 Mb22 Mb22.2 MbZP2: 21,197,450–21,214,510, reverse strandZP2ANKS4B: 21,233,673–21,253,850, forward strandANKS4BCRYM: 21,238,297–21,303,083, reverse strandCRYMNPIPB3: 21,402,237–21,448,567, reverse strandNPIPB3METTL9: 21,597,218–21,657,471, forward strandMETTL9IGSF6: 21,639,550–21,652,638, reverse strandIGSF6OTOA: 21,663,968–21,760,729, forward strandOTOANPIPB4: 21,834,563–21,880,827, reverse strandNPIPB4UQCRC2: 21,952,636–21,990,814, forward strandUQCRC2PDZD9: 21,983,865–22,001,116, reverse strandPDZD9MOSMO: 22,007,638–22,087,534, forward strandMOSMOVWA3A: 22,092,508–22,156,964, forward strandVWA3ASDR42E2: 22,162,492–22,192,208, forward strandSDR42E2EEF2K: 22,206,252–22,288,738, forward strandEEF2KDiagram of OTOA: 29 exons on the forward strand of chromosome 16Exon 6: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 15: 3 known disease-causing sitesExon 16: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 20: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 27: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 1: 21,663,968–21,664,232, 265 basesExon 2: 21,678,511–21,678,605, 95 basesExon 3: 21,678,915–21,678,943, 29 basesExon 4: 21,679,036–21,679,066, 31 basesExon 5: 21,679,184–21,679,211, 28 basesExon 6: 21,681,738–21,681,825, 88 basesExon 7: 21,685,230–21,685,361, 132 basesExon 8: 21,687,413–21,687,648, 236 basesExon 9: 21,691,584–21,691,687, 104 basesExon 10: 21,697,775–21,697,875, 101 basesExon 11: 21,700,888–21,701,027, 140 basesExon 12: 21,705,169–21,705,292, 124 basesExon 13: 21,709,888–21,710,103, 216 basesExon 14: 21,714,985–21,715,152, 168 basesExon 15: 21,716,907–21,717,047, 141 basesExon 16: 21,719,133–21,719,191, 59 basesExon 17: 21,719,387–21,719,504, 118 basesExon 18: 21,722,905–21,722,978, 74 basesExon 19: 21,726,523–21,726,658, 136 basesExon 20: 21,728,241–21,728,431, 191 basesExon 21: 21,730,837–21,730,930, 94 basesExon 22: 21,736,261–21,736,390, 130 basesExon 23: 21,740,721–21,740,908, 188 basesExon 24: 21,744,881–21,745,036, 156 basesExon 25: 21,751,935–21,752,077, 143 basesExon 26: 21,752,369–21,752,505, 137 basesExon 27: 21,753,027–21,753,124, 98 basesExon 28: 21,757,082–21,757,277, 196 basesExon 29: 21,760,470–21,760,729, 260 bases1510152025295′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 3.9 kb of the gene's 96.8 kb; 3,420 of those bases code for the protein.

    Sequencing OTOA

    34

    positions in OTOA where ClinVar classes a change as pathogenic or likely pathogenic

    6 of them (18%) fall in regions short reads find hard.

    • Low mappability (5 sites)
    • Segmental duplications (6 sites)

    A whole genome covers all 96.8 kb of OTOA, introns included, not only the 3.9 kb of exons.

    Genes linked to the same conditions

    Traits linked to OTOA

    The Human Phenotype Ontology lists these as features of the rare conditions OTOA can cause. Each trait's page lists the other genes linked to it.

    External links

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.17-8666dff2.

    Cite this page

    APA

    Dante Labs. (n.d.). OTOA gene: otoancorin. Retrieved 17 October 2026, from https://dantelabs.com/genes/otoa

    Vancouver

    Dante Labs. OTOA gene: otoancorin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/otoa

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