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Aliases for OTOS Gene

Aliases for OTOS Gene

  • Otospiralin 2 3 3 5
  • OTOSP 3 4

External Ids for OTOS Gene

Previous GeneCards Identifiers for OTOS Gene

  • GC02M241399
  • GC02M240798
  • GC02M241078
  • GC02M232836

Summaries for OTOS Gene

Entrez Gene Summary for OTOS Gene

  • 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]

GeneCards Summary for OTOS Gene

OTOS (Otospiralin) is a Protein Coding gene.

UniProtKB/Swiss-Prot for OTOS Gene

  • May be essential for the survival of the neurosensory epithelium of the inner ear.

Additional gene information for OTOS Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTOS Gene

Genomics for OTOS Gene

GeneHancer (GH) Regulatory Elements for OTOS Gene

Promoters and enhancers for OTOS Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I240143 Enhancer 0.7 ENCODE 550.8 +0.6 593 0.1 CTCF EBF1 RAD21 HIC1 ZNF335 GATAD1 ZNF143 SMC3 ZNF391 ZNF654 OTOS COPS9 GC02P240095
GH02I240141 Promoter 0.5 EPDnew 550.8 +3.9 3885 0.1 OTOS COPS9 GC02P240095
GH02I240232 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.2 -89.2 -89184 2.2 HDGF RB1 ARID4B KLF17 SIN3A ZNF48 RAD21 YY1 ZNF335 GLIS2 GPC1 LOC105373968 OTOS
GH02I240235 Enhancer 1.1 Ensembl ENCODE dbSUPER 0.2 -92.5 -92488 3.2 TFAP4 FOXA2 TAF1 SAP130 ARID4B KLF17 MAX SIN3A ZIC2 RAD21 GPC1 LOC105373968 OTOS
GH02I240247 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 0.1 -106.4 -106375 6.8 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B DMAP1 ZBTB7B YY1 FOS GPC1 LOC105373968 OTOS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OTOS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OTOS gene promoter:

Genomic Locations for OTOS Gene

Genomic Locations for OTOS Gene
5,537 bases
Minus strand

Genomic View for OTOS Gene

Genes around OTOS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTOS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTOS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTOS Gene

Proteins for OTOS Gene

  • Protein details for OTOS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q53SW6

    Protein attributes for OTOS Gene

    89 amino acids
    Molecular mass:
    9939 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OTOS Gene

Post-translational modifications for OTOS Gene

No Post-translational modifications

Other Protein References for OTOS Gene

No data available for DME Specific Peptides for OTOS Gene

Domains & Families for OTOS Gene

Gene Families for OTOS Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for OTOS Gene


Suggested Antigen Peptide Sequences for OTOS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the otospiralin family.
  • Belongs to the otospiralin family.
genes like me logo Genes that share domains with OTOS: view

Function for OTOS Gene

Molecular function for OTOS Gene

UniProtKB/Swiss-Prot Function:
May be essential for the survival of the neurosensory epithelium of the inner ear.

Phenotypes From GWAS Catalog for OTOS Gene

genes like me logo Genes that share phenotypes with OTOS: view

Animal Models for OTOS Gene

MGI Knock Outs for OTOS:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for OTOS Gene

Localization for OTOS Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOS Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OTOS gene
Compartment Confidence
extracellular 4

Gene Ontology (GO) - Cellular Components for OTOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with OTOS: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OTOS Gene

Pathways & Interactions for OTOS Gene

No Data Available

Interacting Proteins for OTOS Gene

Gene Ontology (GO) - Biological Process for OTOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA --
genes like me logo Genes that share ontologies with OTOS: view

No data available for Pathways by source and SIGNOR curated interactions for OTOS Gene

Drugs & Compounds for OTOS Gene

(1) Drugs for OTOS Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
genes like me logo Genes that share compounds with OTOS: view

Transcripts for OTOS Gene

mRNA/cDNA for OTOS Gene

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OTOS Gene

Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for OTOS Gene

No ASD Table

Relevant External Links for OTOS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OTOS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OTOS Gene

mRNA differential expression in normal tissues according to GTEx for OTOS Gene

This gene is overexpressed in Pituitary (x32.2) and Thyroid (x6.7).

NURSA nuclear receptor signaling pathways regulating expression of OTOS Gene:


SOURCE GeneReport for Unigene cluster for OTOS Gene:


mRNA Expression by UniProt/SwissProt for OTOS Gene:

Tissue specificity: Ear specific.

Evidence on tissue expression from TISSUES for OTOS Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with OTOS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for OTOS Gene

Orthologs for OTOS Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTOS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia OTOS 33 34
  • 98.88 (n)
(Bos Taurus)
Mammalia OTOS 33 34
  • 88.01 (n)
(Canis familiaris)
Mammalia OTOS 33 34
  • 87.64 (n)
(Mus musculus)
Mammalia Otos 33 16 34
  • 82.4 (n)
(Rattus norvegicus)
Mammalia Otos 33
  • 81.27 (n)
(Monodelphis domestica)
Mammalia OTOS 34
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia OTOS 34
  • 58 (a)
(Anolis carolinensis)
Reptilia OTOS 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia otos 33
  • 68.82 (n)
(Danio rerio)
Actinopterygii OTOS 34
  • 48 (a)
Species where no ortholog for OTOS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OTOS Gene

Gene Tree for OTOS (if available)
Gene Tree for OTOS (if available)

Paralogs for OTOS Gene

No data available for Paralogs for OTOS Gene

Variants for OTOS Gene

Sequence variations from dbSNP and Humsavar for OTOS Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000150714 -- 240,142,441(-) G/A upstream_transcript_variant
rs1000371609 -- 240,142,619(-) G/A upstream_transcript_variant
rs1001103995 -- 240,139,899(-) A/G intron_variant
rs1001200055 -- 240,141,212(-) G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1001559276 -- 240,143,304(-) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for OTOS Gene

Variant ID Type Subtype PubMed ID
nsv997288 CNV gain 25217958

Variation tolerance for OTOS Gene

Residual Variation Intolerance Score: 74.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OTOS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTOS Gene

Disorders for OTOS Gene

Additional Disease Information for OTOS

No disorders were found for OTOS Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OTOS Gene

Publications for OTOS Gene

  1. Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin. (PMID: 12687421) Lavigne-Rebillard M … Hamel CP (Neurogenetics 2003) 2 3 4 22 58
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Downregulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness. (PMID: 11880501) Delprat B … Hamel CP (The Journal of neuroscience : the official journal of the Society for Neuroscience 2002) 3 4 58
  5. Genetic variation in Otos is associated with cisplatin-induced ototoxicity. (PMID: 25410892) Spracklen TF … Ramesar RS (Pharmacogenomics 2014) 3 58

Products for OTOS Gene

Sources for OTOS Gene

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