OTOA - otoancorin Gene
Also Known as CT108; DFNB22
Species: Homo sapiens
About OTOA
This gene has 9 transcripts (splice variants), 134 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 1.9), spleen (RPKM 0.7) and 4 other tissues.
Summary
The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
OTOA Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001161683.2 | NP_001155155.1 | otoancorin isoform 3 |
| NM_144672.4 | NP_653273.3 | otoancorin isoform 1 precursor |
| NM_170664.3 | NP_733764.1 | otoancorin isoform 2 |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
otoancorin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 22 |
|
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| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
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| Deafness, Autosomal Recessive |
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| Autosomal Recessive Nonsyndromic Deafness |
|
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| Rare Genetic Deafness |
|
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| Deafness, Autosomal Recessive 7 |
|
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| Deafness, Autosomal Dominant 4a |
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| Complement Component 2 Deficiency |
|
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| Deafness, Autosomal Recessive 16 |
|
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| Deafness, Autosomal Recessive 83 |
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| Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
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| Deafness, Autosomal Recessive 85 |
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| Deafness, Autosomal Dominant 40 |
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| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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| Deafness, Autosomal Dominant 20 |
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| Deafness, Autosomal Recessive 89 |
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| Deafness, Autosomal Recessive 35 |
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| Deafness, Autosomal Recessive 91 |
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| Deafness, Autosomal Recessive 21 |
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| Deafness, Autosomal Recessive 49 |
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| Deafness, Autosomal Recessive 61 |
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| Usher Syndrome, Type Iid |
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| Superior Semicircular Canal Dehiscence |
|
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| Sensorineural Hearing Loss |
|
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| Deafness, Autosomal Recessive 63 |
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| Usher Syndrome, Type Iia |
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| Deafness, Autosomal Recessive 1a |
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| Deafness, Autosomal Recessive 12 |
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| Usher Syndrome Type 2 |
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| Auditory System Disease |
|
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| Autosomal Dominant Nonsyndromic Deafness |
|
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| Usher Syndrome, Type I |
|
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| Usher Syndrome |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | OTOA | VGNC | VGNC:75624 |
| Bos taurus | OTOA | VGNC | VGNC:32483 |
| Felis catus | OTOA | VGNC | VGNC:63993 |
| Rattus norvegicus | OTOA | RGD | RGD:1562741 |
| Mus musculus | OTOA | MGD | MGI:2149209 |
| Canis familiaris | OTOA | VGNC | VGNC:44175 |
| Others | OTOA | NCBI |