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] See more...

Aliases for OTOS Gene

Aliases for OTOS Gene

  • Otospiralin 2 3 4 5
  • OTOSP 2 3 4
  • OTOS 5

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 Deafness, Autosomal Recessive 68 and Loeys-Dietz Syndrome 2.

UniProtKB/Swiss-Prot Summary for OTOS Gene

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

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OTOS Gene

Genomics for OTOS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OTOS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J240143 Enhancer 0.9 Ensembl ENCODE 256.7 +0.8 758 0.8 ZFP64 CTCF REST TRIM22 MIER3 EBF1 SMC3 GABPB1 RAD21 GATAD1 OTOS COPS9
GH02J240583 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 -441.5 -441486 5.1 CHD2 TBP ZBTB10 SP1 BCL11A MXD4 CEBPA SIX5 NR2C1 MNT CAPN10 CAPN10-DT lnc-ANKMY1-4 piR-40197 ANKMY1 ENSG00000223374 GPR35 OTOS COPS9 KIF1A
GH02J240170 Enhancer 0.4 Ensembl 12.4 -25.9 -25940 0.6 BHLHE40 FOXA1 KLF9 OTOS COPS9 FR772910-004 ENSG00000286325 GPC1
GH02J240146 Enhancer 0.5 Ensembl 7.3 -2.4 -2439 0.8 FOXA1 KLF9 YBX1 ARNT KLF1 EGR2 MNT ZFHX2 ZNF335 OTOS piR-43107-172 GPC1
GH02J240140 Enhancer 0.5 Ensembl ENCODE CraniofacialAtlas 6.7 +4.7 4678 1.4 OTOS COPS9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OTOS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OTOS

Top Transcription factor binding sites by QIAGEN in the OTOS gene promoter:
  • AP-4
  • ATF
  • E47
  • Hand1
  • Lmo2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for OTOS Gene

Latest Assembly
chr2:240,138,942-240,144,562
(GRCh38/hg38)
Size:
5,621 bases
Orientation:
Minus strand

Previous Assembly
chr2:241,078,443-241,080,075
(GRCh37/hg19 by Entrez Gene)
Size:
1,633 bases
Orientation:
Minus strand

chr2:241,078,446-241,083,979
(GRCh37/hg19 by Ensembl)
Size:
5,534 bases
Orientation:
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:
    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

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OTOS Gene

GenScript: Design optimal peptide antigens:
  • Otospiralin (OTOSP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NHW6

UniProtKB/Swiss-Prot:

OTOSP_HUMAN :
  • Belongs to the otospiralin family.
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

Gene Ontology (GO) - Molecular Function for OTOS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with OTOS: view
genes like me logo Genes that share phenotypes with OTOS: view

Animal Models for OTOS Gene

MGI Knock Outs for OTOS:
  • Otos Otos<tm1Cham>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTOS

No data available for Enzyme Numbers (IUBMB) , 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

Secreted.

Subcellular locations from

COMPARTMENTS
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
cytoskeleton 1
mitochondrion 1
nucleus 1

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

PathCards logo

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 IBA 21873635
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 3579
genes like me logo Genes that share compounds with OTOS: view

Transcripts for OTOS Gene

mRNA/cDNA for OTOS Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTOS

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

No ASD Table

Relevant External Links for OTOS Gene

GeneLoc Exon Structure for
OTOS

Expression for OTOS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OTOS

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.

Evidence on tissue expression from TISSUES for OTOS Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with OTOS: view

Primer products for research

No data available for 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
Chimpanzee
(Pan troglodytes)
Mammalia OTOS 30 31
  • 98.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OTOS 30 31
  • 88.01 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OTOS 30 31
  • 87.64 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Otos 30 17 31
  • 82.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Otos 30
  • 81.27 (n)
Oppossum
(Monodelphis domestica)
Mammalia OTOS 31
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia OTOS 31
  • 58 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OTOS 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia otos 30
  • 68.82 (n)
Zebrafish
(Danio rerio)
Actinopterygii OTOS 31
  • 48 (a)
OneToOne
Species where no ortholog for OTOS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for OTOS: view image

Paralogs for OTOS Gene

No data available for Paralogs for OTOS Gene

Variants for OTOS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OTOS Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs35889242 - p.Pro7Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OTOS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
OTOS

SNP Genotyping and Copy Number Assays for research

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

Disorders for OTOS Gene

MalaCards: The human disease database

(4) MalaCards diseases for OTOS Gene - From: COP

Disorder Aliases PubMed IDs
deafness, autosomal recessive 68
  • dfnb68
loeys-dietz syndrome 2
  • lds2
cataract 4, multiple types
  • ctrct4
autosomal dominant nonsyndromic deafness
  • autosomal dominant deafness
- elite association - COSMIC cancer census association via MalaCards
Search OTOS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OTOS

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with OTOS: view

No data available for 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 23
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  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
  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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for OTOS Gene

Sources for OTOS Gene