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Aliases for OTOA Gene

Aliases for OTOA Gene

  • Otoancorin 2 3 5
  • Cancer/Testis Antigen 108 2 3
  • Deafness, Autosomal Recessive 22 2
  • DFNB22 3
  • 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 autosomal recessive non-syndromic sensorineural deafness type dfnb. 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

Chromosome:
16
Start:
21,664,155 bp from pter
End:
21,760,729 bp from pter
Size:
96,575 bases
Orientation:
Plus strand

Genomic View for OTOA Gene

Genes around OTOA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTOA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 156, Asn 211, Asn 244, Asn 289, Asn 321, Asn 394, Asn 398, Asn 460, Asn 544, Asn 812, Asn 911, and Asn 974
  • Modification sites at PhosphoSitePlus

Other Protein References for OTOA Gene

No data available for DME Specific Peptides for OTOA Gene

Domains & Families for OTOA Gene

Protein Domains for OTOA Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q7RTW8

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for OTOA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OTOA Gene

MGI Knock Outs for OTOA:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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
extracellular 4
plasma membrane 4
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for OTOA Gene

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

Pathways & Interactions 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 IBA --
genes like me logo Genes that share ontologies with OTOA: view

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

Drugs & Compounds for OTOA Gene

No Compound Related Data Available

Transcripts for OTOA Gene

Unigene Clusters for OTOA Gene

Otoancorin:
Representative Sequences:

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 (x18.3) and Spleen (x5.0).

Protein differential expression in normal tissues from HIPED for OTOA Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OTOA Gene



SOURCE GeneReport for Unigene cluster for OTOA Gene Hs.408336

genes like me logo Genes that share expression patterns with OTOA: view

Protein tissue co-expression partners for OTOA Gene

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia OTOA 35
  • 99.5 (n)
  • 99.39 (a)
OTOA 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OTOA 36
  • 83 (a)
OneToOne
LOC617718 35
  • 86.44 (n)
  • 83.48 (a)
dog
(Canis familiaris)
Mammalia OTOA 35
  • 87.42 (n)
  • 83.93 (a)
OTOA 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Otoa 16
Otoa 36
  • 77 (a)
OneToOne
Otoa 35
  • 81.4 (n)
  • 77.38 (a)
oppossum
(Monodelphis domestica)
Mammalia OTOA 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OTOA 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otoa 35
  • 81.48 (n)
  • 78.87 (a)
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 si:ch211-150j10.4 36
  • 21 (a)
ManyToMany
LOC100007015 35
  • 42.85 (n)
  • 27.94 (a)
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
rs215884 -- 21,713,598(-) TCACA(A/T)GAATG intron-variant
rs215885 -- 21,712,938(-) AGGCC(A/G)ACTCC intron-variant
rs215886 -- 21,700,530(-) ccagg(C/G)tggtc intron-variant
rs215887 -- 21,699,775(-) tgccc(A/G)gctaa intron-variant
rs215888 -- 21,699,767(-) taatt(A/T)ttgta 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

Variation tolerance for OTOA Gene

Residual Variation Intolerance Score: 14.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.43; 77.25% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(8) MalaCards diseases for OTOA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 22
  • deafness, autosomal recessive, 22
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
dfnb22 nonsyndromic hearing loss and deafness
  • dfnb 22 nonsyndromic hearing loss and deafness
deafness, autosomal recessive 93
  • deafness, autosomal recessive, 93
deafness, autosomal recessive 76
  • deafness, autosomal recessive, 76
- elite association - COSMIC cancer census association via MalaCards
Search OTOA in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for OTOA

Genetic Association Database (GAD)
OTOA
Human Genome Epidemiology (HuGE) Navigator
OTOA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OTOA
genes like me logo Genes that share disorders with OTOA: view

No data available for 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 67
  2. 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
  3. Genome-wide analysis of cancer/testis gene expression. (PMID: 19088187) Hofmann O. … Hide W. (Proc. Natl. Acad. Sci. U.S.A. 2008) 2 3
  4. Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families. (PMID: 23173898) Lee K. … Leal S.M. (Clin. Genet. 2013) 3
  5. 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

Products for OTOA Gene

Sources for OTOA Gene

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