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

Aliases for OTOA Gene

Aliases for OTOA Gene

  • Otoancorin 2 3
  • Cancer/Testis Antigen 108 2 3
  • DFNB22 3 6
  • Deafness, Autosomal Recessive 22 2
  • CT108 3

External Ids for OTOA Gene

Previous HGNC Symbols for OTOA Gene

  • DFNB22

Previous GeneCards Identifiers for OTOA Gene

  • GC16P021150
  • GC16P021698
  • GC16P021656
  • GC16P021597
  • GC16P020071

Summaries for OTOA Gene

Entrez Gene Summary for OTOA Gene

  • The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for OTOA Gene

OTOA (Otoancorin) is a Protein Coding gene. Diseases associated with OTOA include deafness, autosomal recessive 22 and dfnb22 nonsyndromic hearing loss and deafness. An important paralog of this gene is STRC.

UniProtKB/Swiss-Prot for OTOA Gene

  • May act as an adhesion molecule

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

Genomics for OTOA Gene

Regulatory Elements for OTOA Gene

Genomic Location for OTOA Gene

Start:
21,678,514 bp from pter
End:
21,760,729 bp from pter
Size:
82,216 bases
Orientation:
Plus strand

Genomic View for OTOA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OTOA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTOA Gene

Proteins for OTOA Gene

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

    Protein Symbol:
    Q7RTW8-OTOAN_HUMAN
    Recommended name:
    Otoancorin
    Protein Accession:
    Q7RTW8
    Secondary Accessions:
    • A1L3A8
    • A2VDI0
    • B3KWU3
    • E9PF51
    • Q8NA86
    • Q96M76

    Protein attributes for OTOA Gene

    Size:
    1153 amino acids
    Molecular mass:
    128533 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AK057335; Type=Frameshift; Positions=1139; Evidence={ECO:0000305};

    Alternative splice isoforms for OTOA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OTOA Gene

Proteomics data for OTOA Gene at MOPED

Post-translational modifications for OTOA Gene

  • Glycosylation at Asn156, Asn211, Asn244, Asn289, Asn321, Asn394, Asn398, Asn460, Asn544, Asn812, Asn911, and Asn974
  • Modification sites at PhosphoSitePlus

Other Protein References for OTOA Gene

Antibody Products

No data available for DME Specific Peptides for OTOA Gene

Domains for OTOA Gene

Protein Domains for OTOA Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q7RTW8

UniProtKB/Swiss-Prot:

OTOAN_HUMAN :
  • Q7RTW8
Family:
  • Belongs to the stereocilin family.
genes like me logo Genes that share domains with OTOA: view

No data available for Gene Families for OTOA Gene

Function for OTOA Gene

Molecular function for OTOA Gene

UniProtKB/Swiss-Prot Function:
May act as an adhesion molecule

Phenotypes for OTOA Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OTOA

In Situ Assay Products

Flow Cytometry Products

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

Localization for OTOA Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOA Gene

Apical cell membrane; Lipid-anchor, GPI-anchor; Extracellular side. Secreted, extracellular space, extracellular matrix. Note=At the interface between the apical surface of the epithelia and the overlying acellular gel of the tectorial and otoconial membranes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OTOA Gene COMPARTMENTS Subcellular localization image for OTOA gene
Compartment Confidence
plasma membrane 5
extracellular 4
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for OTOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0016324 apical plasma membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with OTOA: view

Pathways for OTOA Gene

SuperPathways for OTOA Gene

No Data Available

Interacting Proteins for OTOA Gene

Gene Ontology (GO) - Biological Process for OTOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion IEA --
GO:0007605 sensory perception of sound IEA --
GO:0019226 transmission of nerve impulse IEA --
genes like me logo Genes that share ontologies with OTOA: view

No data available for Pathways by source for OTOA Gene

Transcripts for OTOA Gene

Unigene Clusters for OTOA Gene

Otoancorin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OTOA

Primer Products

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: - - -
SP2: -
SP3: -
SP4:

ExUns: 26
SP1:
SP2:
SP3:
SP4:

Relevant External Links for OTOA Gene

GeneLoc Exon Structure for
OTOA
ECgene alternative splicing isoforms for
OTOA

Expression for OTOA Gene

mRNA expression in normal human tissues for OTOA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (18.3) and Spleen (5.0).

Protein differential expression in normal tissues for OTOA Gene

This gene is overexpressed in Tlymphocyte (48.0), Heart (12.0), and Brain (8.9).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for OTOA Gene

SOURCE GeneReport for Unigene cluster for OTOA Gene Hs.408336

genes like me logo Genes that share expressions with OTOA: view

Expression partners for OTOA Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for OTOA Gene

Orthologs for OTOA Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTOA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC617718 35
  • 86.44 (n)
  • 83.48 (a)
OTOA 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTOA 35
  • 87.42 (n)
  • 83.93 (a)
OTOA 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Otoa 35
  • 81.4 (n)
  • 77.38 (a)
Otoa 16
Otoa 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OTOA 35
  • 99.5 (n)
  • 99.39 (a)
OTOA 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otoa 35
  • 81.48 (n)
  • 78.87 (a)
oppossum
(Monodelphis domestica)
Mammalia OTOA 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OTOA 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTOA 35
  • 63.31 (n)
  • 58.5 (a)
OTOA 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTOA 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otoa 35
  • 58.12 (n)
  • 50.55 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100007015 35
  • 42.85 (n)
  • 27.94 (a)
si:ch211-150j10.4 36
  • 21 (a)
ManyToMany
Species with no ortholog for OTOA:
  • 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)
  • 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 OTOA Gene

ENSEMBL:
Gene Tree for OTOA (if available)
TreeFam:
Gene Tree for OTOA (if available)

Paralogs for OTOA Gene

Paralogs for OTOA Gene

Pseudogenes.org Pseudogenes for OTOA Gene

genes like me logo Genes that share paralogs with OTOA: view

Variants for OTOA Gene

Sequence variations from dbSNP and Humsavar for OTOA Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs150583 -- 21,701,422(-) ACAAG(C/T)GGTTC intron-variant
rs150584 -- 21,692,185(-) cacgc(C/T)cggtt intron-variant
rs150585 -- 21,690,196(-) aaaaa(C/T)aaaaa intron-variant
rs150588 -- 21,715,443(-) aaaaa(A/C)aaact intron-variant
rs170017 -- 21,714,366(-) gagaa(A/G)gaaag intron-variant

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

Variant ID Type Subtype PubMed ID
esv34235 CNV Gain 17911159
dgv830e1 CNV Complex 17122850
esv25717 CNV Gain+Loss 19812545
nsv433438 CNV Gain 18776910
nsv905579 CNV Gain 21882294
nsv9397 CNV Gain+Loss 18304495
dgv2642n71 CNV Loss 21882294
dgv831e1 CNV Complex 17122850
dgv832e1 CNV Complex 17122850
nsv428322 CNV Gain 18775914
dgv2643n71 CNV Gain 21882294
esv2751551 CNV Gain 17911159
esv34544 CNV Gain 17911159
esv2751552 CNV Loss 17911159
dgv116e55 CNV Loss 17911159
nsv7280 OTHER Inversion 18451855
dgv347n27 CNV Gain 19166990
dgv348n27 CNV Loss 19166990
nsv471086 CNV Loss 18288195
nsv517713 CNV Gain+Loss 19592680
nsv817726 CNV Gain 17921354
dgv2644n71 CNV Loss 21882294
dgv3n1 OTHER Inversion 15895083
nsv511047 OTHER Inversion 20534489
dgv2645n71 CNV Gain+Loss 21882294
dgv2646n71 CNV Gain 21882294
nsv905590 CNV Gain 21882294
dgv47n16 OTHER Inversion 17901297
nsv499139 OTHER Inversion 21111241
esv998989 OTHER Inversion 20482838
dgv2n29 CNV Loss 16826518
dgv833e1 CNV Complex 17122850
essv3313 CNV CNV 17122850
nsv457460 CNV Loss 19166990
nsv833167 CNV Gain 17160897
esv2714070 CNV Deletion 23290073
nsv820589 CNV Duplication 20802225
nsv905596 CNV Gain 21882294
dgv48n16 CNV Insertion 17901297

Relevant External Links for OTOA Gene

HapMap Linkage Disequilibrium report
OTOA
Human Gene Mutation Database (HGMD)
OTOA

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

Disorders for OTOA Gene

(1) OMIM Diseases for OTOA Gene (607038)

UniProtKB/Swiss-Prot

OTOAN_HUMAN
  • Deafness, autosomal recessive, 22 (DFNB22) [MIM:607039]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:11972037}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for OTOA Gene

Relevant External Links for OTOA

Genetic Association Database (GAD)
OTOA
Human Genome Epidemiology (HuGE) Navigator
OTOA
genes like me logo Genes that share disorders with OTOA: view

No data available for Novoseek inferred disease relationships and Genatlas for OTOA Gene

Publications for OTOA Gene

  1. Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. (PMID: 11972037) Zwaenepoel I. … Petit C. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Genome-wide analysis of cancer/testis gene expression. (PMID: 19088187) Hofmann O. … Hide W. (Proc. Natl. Acad. Sci. U.S.A. 2008) 2 3
  5. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. (PMID: 19888295) Shahin H. … Kanaan M. (Eur. J. Hum. Genet. 2010) 3 23

Products for OTOA Gene

Sources for OTOA Gene

Back to Top

Content