Free for academic non-profit institutions. Other users need a Commercial license

Aliases for OTOS Gene

Aliases for OTOS Gene

  • Otospiralin 2 3
  • OTOSP 3 4 6

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. Diseases associated with OTOS include vestibular disease.

UniProtKB/Swiss-Prot for OTOS Gene

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

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

Genomics for OTOS Gene

Regulatory Elements for OTOS Gene

Genomic Location for OTOS Gene

Start:
240,139,026 bp from pter
End:
240,144,562 bp from pter
Size:
5,537 bases
Orientation:
Minus strand

Genomic View for OTOS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q8NHW6-OTOSP_HUMAN
    Recommended name:
    Otospiralin
    Protein Accession:
    Q8NHW6
    Secondary Accessions:
    • Q53SW6

    Protein attributes for OTOS Gene

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

neXtProt entry for OTOS Gene

Proteomics data for OTOS Gene at MOPED

Post-translational modifications for OTOS Gene

No Post-translational modifications

Other Protein References for OTOS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OTOS Gene

Domains for OTOS Gene

Protein Domains for OTOS Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OTOS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NHW6

UniProtKB/Swiss-Prot:

OTOSP_HUMAN :
  • Q8NHW6
Family:
  • Belongs to the otospiralin family.
genes like me logo Genes that share domains with OTOS: view

No data available for Gene Families for OTOS Gene

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

Animal Models for OTOS Gene

MGI Knock Outs for OTOS:

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

Localization for OTOS Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOS Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OTOS Gene 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

Pathways for OTOS Gene

SuperPathways 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 for OTOS Gene

Transcripts for OTOS Gene

mRNA/cDNA for OTOS Gene

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

Unigene Clusters for OTOS Gene

Otospiralin:
Representative Sequences:

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

No ASD Table

Relevant External Links for OTOS Gene

GeneLoc Exon Structure for
OTOS
ECgene alternative splicing isoforms for
OTOS

Expression for OTOS Gene

mRNA expression in normal human tissues for OTOS Gene

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

This gene is overexpressed in Pituitary (32.2) and Thyroid (6.7).

SOURCE GeneReport for Unigene cluster for OTOS Gene Hs.148586

mRNA Expression by UniProt/SwissProt for OTOS Gene

Q8NHW6-OTOSP_HUMAN
Tissue specificity: Ear specific
genes like me logo Genes that share expressions with OTOS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression 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
chimpanzee
(Pan troglodytes)
Mammalia OTOS 35
  • 98.88 (n)
  • 100 (a)
OTOS 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OTOS 35
  • 88.01 (n)
  • 87.64 (a)
OTOS 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTOS 35
  • 87.64 (n)
  • 88.76 (a)
OTOS 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Otos 35
  • 82.4 (n)
  • 79.78 (a)
Otos 16
Otos 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OTOS 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OTOS 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otos 35
  • 81.27 (n)
  • 80.9 (a)
lizard
(Anolis carolinensis)
Reptilia OTOS 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otos 35
  • 68.82 (n)
  • 67.74 (a)
zebrafish
(Danio rerio)
Actinopterygii OTOS 36
  • 48 (a)
OneToOne
Species with no ortholog for OTOS:
  • 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

ENSEMBL:
Gene Tree for OTOS (if available)
TreeFam:
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 Sequence Context AA Info Type MAF
rs508944 -- 240,140,467(-) TTTTT(A/T)AAATC intron-variant
rs520679 -- 240,142,420(+) GTGAA(A/G)AAGGG upstream-variant-2KB
rs903758 -- 240,139,743(-) CAACT(C/G)TGAGC intron-variant
rs903759 -- 240,139,528(-) TCCCC(A/G)ACCAG intron-variant
rs1659925 -- 240,141,214(+) AGGGT(C/T)TCTGT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv876099 CNV Gain 21882294
nsv483047 CNV Loss 15286789
nsv876115 CNV Loss 21882294

Relevant External Links for OTOS Gene

HapMap Linkage Disequilibrium report
OTOS

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

Disorders for OTOS Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for OTOS Gene including...

Search for OTOS Gene in MalaCards »

(1) University of Copenhagen DISEASES for OTOS Gene

Relevant External Links for OTOS

Genetic Association Database (GAD)
OTOS
genes like me logo Genes that share disorders with OTOS: view

No data available for UniProtKB/Swiss-Prot 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 C.P. (Neurogenetics 2003) 2 3 4 23
  2. Down regulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness. (PMID: 11880501) Delprat B. … Hamel C.P. (J. Neurosci. 2002) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4
  5. A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. (PMID: 19023125) Potkin S.G. … Macciardi F. (Schizophr Bull 2009) 48

Products for OTOS Gene

Sources for OTOS Gene

Back to Top

Content