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OTOS Gene

protein-coding   GIFtS: 43
GCID: GC02M241078

Otospiralin

  See OTOS-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
otospiralin1 2
OTOSP2 3 5

External Ids:    HGNC: 226441   Entrez Gene: 1506772   Ensembl: ENSG000001786027   OMIM: 6078775   UniProtKB: Q8NHW63   

Export aliases for OTOS gene to outside databases

Previous GC identifers: GC02M241399 GC02M240798 GC02M232836


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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: OTOSP_HUMAN, Q8NHW6
Function: May be essential for the survival of the neurosensory epithelium of the inner ear (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the OTOS gene promoter:
         PPAR-gamma1   Lmo2   Hand1   AP-4   PPAR-gamma2   ATF   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOTOS promoter sequence
   Search Chromatin IP Primers for OTOS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OTOS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

OTOS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OTOS gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M241078:  view genomic region     (about GC identifiers)

Start:
241,078,446 bp from pter      End:
241,083,979 bp from pter
Size:
5,534 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: OTOSP_HUMAN, Q8NHW6 (See protein sequence)
Recommended Name: Otospiralin precursor  
Size: 89 amino acids; 9939 Da
Secondary accessions: Q53SW6

Explore the universe of human proteins at neXtProt for OTOS: NX_Q8NHW6

REFSEQ proteins: NP_683764.1  
ENSEMBL proteins: 
 ENSP00000375849   ENSP00000322486  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR028224 Otospiralin

Graphical View of Domain Structure for InterPro Entry Q8NHW6

ProtoNet protein and cluster: Q8NHW6

UniProtKB/Swiss-Prot: OTOSP_HUMAN, Q8NHW6
Similarity: Belongs to the otospiralin family


Find genes that share domains with OTOS           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: OTOSP_HUMAN, Q8NHW6
Function: May be essential for the survival of the neurosensory epithelium of the inner ear (By similarity)

Phenotypes:
     3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Otos):

 hearing/vestibular/ear  nervous system  skeleton 

Find genes that share phenotypes with OTOS           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Otostm1Cham for OTOS

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
OTOSP_HUMAN, Q8NHW6: Secreted (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular4

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

Find genes that share ontologies with OTOS           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OTOS
Interactions:

    Search GeneGlobe Interaction Network for OTOS

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007605sensory perception of sound IEA--

Find genes that share ontologies with OTOS           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for OTOS (OTOSP)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for OTOS gene: 
NM_148961.3  

Unigene Cluster for OTOS:

Otospiralin
Hs.148586  [show with all ESTs]
Unigene Representative Sequence: NM_148961
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000391989 ENST00000319460(uc002vyv.3)
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Additional mRNA sequence: 

BC105085.1 BC105087.1 

1 DOTS entry:

DT.100035501 

9 AceView cDNA sequences:

AI494286 BX118794 NM_148961 AI201810 AI939423 BF509701 CD251340 AW772596 
AI871046 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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OTOS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAGTCCCCGC
OTOS Expression
About this image

OTOS Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.148586

UniProtKB/Swiss-Prot: OTOSP_HUMAN, Q8NHW6
Tissue specificity: Ear specific

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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for OTOS gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Otos1 , 5 otospiralin1, 5 82.4(n)1
79.78(a)1
  1 (46.55 cM)5
2603011  NM_153114.21  NP_694754.11 
 926442185 
lizard
(Anolis carolinensis)
Reptilia OTOS6
otospiralin
62(a)
1 ↔ 1
3(28765295-28765474)
African clawed frog
(Xenopus laevis)
Amphibia CB943153.12   -- 73.3(n)    CB943153.1 
zebrafish
(Danio rerio)
Actinopterygii OTOS6
otospiralin
48(a)
1 ↔ 1
24(27099606-27100786) ENSDARG00000088268


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for OTOS (see all 147)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1155613791,2
C,F--241077966(+) TACAGG/ATGGGG 1 -- ds50011Minor allele frequency- A:0.04WA 118
rs1900897891,2
--241078011(+) CTGCTC/TCCAGG 1 -- ds50010--------
rs48540251,2
C,F,A--241078160(-) acatgC/Aggtca 1 -- ds50013Minor allele frequency- A:0.04CSA WA NA 240
rs1471026641,2
--241078187(+) TCACCC/TGTAAT 1 -- ds50010--------
rs1383182001,2
--241078190(+) CCCGTA/GATCTG 1 -- ds50010--------
rs1437980941,2
--241078204(+) GAACTG/TCAGTG 1 -- ds50010--------
rs777143321,2
C--241078208(+) TGCAGT/CGCCCC 1 -- ds50012Minor allele frequency- C:0.15NA EA 122
rs1823337391,2
--241078250(+) AGACAC/TAGAAA 1 -- ds50010--------
rs1877153601,2
--241078292(+) CCCTTC/GTTGAT 1 -- ds50010--------
rs556890541,2
C,F--241078396(+) AGTAAG/ATGGGG 1 -- ds50011Minor allele frequency- A:0.07NA 120

HapMap Linkage Disequilibrium report for OTOS (241078446 - 241083979 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for OTOS:    About this table    
Variant IDTypeSubtypePubMed ID
nsv876115CNV Loss21882294
nsv483047CNV Loss15286789
nsv876099CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607877    OMIM disorders: --

1 disease for OTOS:    
About MalaCards
vestibular disease

1 disease from the University of Copenhagen DISEASES database for OTOS:
Vestibular disease

Find genes that share disorders with OTOS           About GenesLikeMe

Genetic Association Database (GAD): OTOS

Export disorders for OTOS gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for OTOS gene integrated from 10 sources:
(articles sorted by number of sources associating them with OTOS)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin. (PubMed id 12687421)1, 2, 3, 9 Lavigne-Rebillard M.... Hamel C.P. (Neurogenetics 2003)
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. Down regulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness. (PubMed id 11880501)1, 2 Delprat B....Hamel C.P. (J. Neurosci. 2002)
  5. A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. (PubMed id 19023125)4 Potkin S.G....Macciardi F. (Schizophr Bull 2009)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. Deafness and cochlear fibrocyte alterations in mice deficient for the inner ear protein otospiralin. (PubMed id 15632083)9 Delprat B....Hamel C.P. (Mol. Cell. Biol. 2005)
  8. [Intervention of spiral ligament fibrocytes in the metabolic regulation of the inner ear]. (PubMed id 19080786)9 GarcA-a Berrocal J.R....RamA-rez Camacho R. (Acta Otorrinolaringol Esp 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 150677 HGNC: 22644 AceView: OTOS Ensembl:ENSG00000178602 euGenes: HUgn150677
ECgene: OTOS H-InvDB: OTOS

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for OTOS Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for OTOS gene:
Search GeneIP for patents involving OTOS

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 Search ThermoFisher Antibodies for OTOS
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OTOS
 Browse compounds at ApexBio
 Search Addgene for plasmids for OTOS
  Search eBioscience for proteins for OTOS
  Search eBioscience for elisas for OTOS
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for OTOS
 antibodies-online antibodies for OTOS (6 products)
 antibodies-online kits for OTOS (7 products)
 antibodies-online peptides for OTOS
 antibodies-online proteins for OTOS (2 products)
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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