OTOS (otospiralin)

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Gene Gene information from NCBI Gene database.
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Entrez ID 150677
Gene name Otospiralin
Gene symbol OTOS
Synonyms (NCBI Gene)
OTOSP
Chromosome 2
Chromosome location 2q37.3
Summary 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 [PubMed 12687421]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT1207251 hsa-miR-1908 CLIP-seq
MIRT1207252 hsa-miR-3944-5p CLIP-seq
MIRT1207253 hsa-miR-663 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0007605 Process Sensory perception of sound IBA
GO:0007605 Process Sensory perception of sound IEA
GO:0007605 Process Sensory perception of sound IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
607877 22644 ENSG00000178602
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NHW6
Protein name Otospiralin
Protein function May be essential for the survival of the neurosensory epithelium of the inner ear.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15182 OTOS 21 → 89 Otospiralin Family
Tissue specificity TISSUE SPECIFICITY: Ear specific.
Sequence 
MQACMVPGLALCLLLGPLAGAKPVQEEGDPYAELPAMPYWPFSTSDFWNYVQHFQALGAY
PQIEDMARTFFAHFPLGSTLGFHVPYQED
Sequence length 89
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for OTOS.

No additional diseases found yet through genes similar to OTOS.