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Aliases for OTOA Gene

Aliases for OTOA Gene

  • Otoancorin 2 3 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 Nonsyndromic Hearing Loss And Deafness. Among its related pathways are Metabolism of proteins and Post-translational modification- synthesis of GPI-anchored proteins. An important paralog of this gene is STRC.

UniProtKB/Swiss-Prot for OTOA Gene

  • May act as an adhesion molecule.

Additional gene information for OTOA Gene

No data available for CIViC summary , 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

Enhancers for OTOA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H021708 1 Ensembl ENCODE 12.4 +44.5 44458 0 ELF3 DRAP1 CTCF CEBPG BATF ZSCAN9 RAD21 SMC3 ZNF143 SMARCA5 OTOA IGSF6 GC16P021706 GC16M021726
GH16H021589 1.1 Ensembl ENCODE dbSUPER 10.6 -73.2 -73210 2 GATA3 PRDM6 GLIS1 CEBPB ZBTB33 PRDM10 ZNF558 RNU6-1005P RNU6-196P IGSF6 OTOA ENSG00000252798 METTL9
GH16H021593 0.5 dbSUPER 10.8 -70.7 -70692 0 MAFF ZNF316 GLIS1 PRDM1 MAFK RNU6-196P RNU6-1005P IGSF6 OTOA METTL9 ENSG00000252798
GH16H022006 1.3 FANTOM5 ENCODE 2 +344.1 344103 2 PKNOX1 ATF1 ARID4B SIN3A YY1 ZNF548 ATF7 SP3 ZHX2 MIER2 SMG1P4 SMG1P1 SMG1P3 NPIPB4 NPIPB5 NPIPB3 ENSG00000260635 ENSG00000260905 POLR3E EEF2K
GH16H022070 0.7 FANTOM5 ENCODE 2.2 +407.1 407118 2 POLR2A PRDM1 PDZD9 VWA3A SDR42E2 UQCRC2 ENSG00000260905 OTOA GC16P022079 GC16P022057
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OTOA on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for OTOA Gene

  • Glycosylation at posLast=156156, posLast=211211, posLast=244244, posLast=289289, Asn321, Asn394, posLast=398398, Asn460, Asn544, posLast=812812, Asn911, and posLast=974974
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OTOA Gene

Domains & Families for OTOA Gene

Gene Families for OTOA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for OTOA
  • Applied Biological Materials Clones for OTOA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 OTOA gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for OTOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with OTOA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OTOA Gene

Pathways & Interactions for OTOA Gene

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

Interacting Proteins for OTOA Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000373610%0d%0a9606.ENSP00000323421%0d%0a9606.ENSP00000350036%0d%0a9606.ENSP00000269127%0d%0a
Selected Interacting proteins: ENSP00000373610 for OTOA Gene via STRING

Gene Ontology (GO) - Biological Process for OTOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006501 C-terminal protein lipidation TAS --
GO:0007160 cell-matrix adhesion IBA --
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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for OTOA
  • Applied Biological Materials Clones for OTOA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, and MOPED for OTOA Gene



Protein tissue co-expression partners for OTOA Gene

NURSA nuclear receptor signaling pathways regulating expression of OTOA Gene:

OTOA

SOURCE GeneReport for Unigene cluster for OTOA Gene:

Hs.408336

Phenotype-based relationships between genes and organs from Gene ORGANizer for OTOA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with OTOA: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 33 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia OTOA 33 34
  • 87.42 (n)
cow
(Bos Taurus)
Mammalia LOC617718 33
  • 86.44 (n)
OTOA 34
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otoa 33
  • 81.48 (n)
mouse
(Mus musculus)
Mammalia Otoa 33 16 34
  • 81.4 (n)
oppossum
(Monodelphis domestica)
Mammalia OTOA 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OTOA 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTOA 33 34
  • 63.31 (n)
lizard
(Anolis carolinensis)
Reptilia OTOA 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia otoa 33
  • 58.12 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100007015 33
  • 42.85 (n)
si:ch211-150j10.4 34
  • 21 (a)
ManyToMany
Species where no ortholog for OTOA was found in the sources mined by GeneCards:
  • 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
rs148690740 Pathogenic 21,722,979(+) CTCCC(A/G)TAAGT splice-donor-variant
rs200656442 Pathogenic 21,715,016(+) GATGG(A/G)CGCAC reference, missense
rs587777133 Pathogenic 21,722,977(+) CACTC(C/T)CGTAA reference, missense
rs727503350 Pathogenic 21,719,192(+) TTGAG(G/T)TAGGA splice-donor-variant, utr-variant-5-prime
rs876657716 Pathogenic 21,697,781(+) TGACT(A/CTGCTT)CATGG reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
dgv116e55 CNV loss 17911159
dgv1317n106 CNV duplication 24896259
dgv2800n100 CNV gain 25217958
dgv2803n100 CNV loss 25217958
dgv2804n100 CNV gain 25217958
dgv2805n100 CNV gain+loss 25217958
dgv2806n100 CNV gain 25217958
dgv2807n100 CNV loss 25217958
dgv2808n100 CNV gain+loss 25217958
dgv2809n100 CNV loss 25217958
dgv2810n100 CNV loss 25217958
dgv347n27 CNV gain 19166990
dgv348n27 CNV loss 19166990
dgv3n1 OTHER inversion 15895083
dgv3n29 CNV loss 16826518
dgv47n16 OTHER inversion 17901297
dgv4944n54 CNV loss 21841781
dgv4946n54 CNV gain+loss 21841781
dgv4947n54 CNV loss 21841781
dgv806e212 CNV loss 25503493
esv25717 CNV gain+loss 19812545
esv2751551 CNV gain 17911159
esv2751552 CNV loss 17911159
esv2758636 CNV gain+loss 17122850
esv2762010 CNV gain+loss 21179565
esv2763135 CNV gain 21179565
esv3368991 OTHER inversion 20981092
esv34235 CNV gain 17911159
esv34544 CNV gain 17911159
esv3570431 CNV gain 25503493
esv3582094 CNV loss 25503493
esv3638186 CNV loss 21293372
esv3638187 CNV gain 21293372
esv3892812 CNV gain+loss 25118596
esv998989 OTHER inversion 20482838
nsv1077770 OTHER inversion 25765185
nsv1077818 CNV duplication 25765185
nsv1139647 CNV duplication 24896259
nsv1140248 OTHER inversion 24896259
nsv1148667 CNV duplication 26484159
nsv428322 CNV gain 18775914
nsv433438 CNV gain 18776910
nsv457460 CNV loss 19166990
nsv471086 CNV loss 18288195
nsv499139 OTHER inversion 21111241
nsv517713 CNV gain+loss 19592680
nsv571631 CNV loss 21841781
nsv571634 CNV gain 21841781
nsv571635 CNV gain 21841781
nsv571639 CNV loss 21841781
nsv571640 CNV loss 21841781
nsv7280 OTHER inversion 18451855
nsv817726 CNV gain 17921354
nsv820589 CNV duplication 20802225
nsv833167 CNV gain 17160897
nsv9397 CNV gain+loss 18304495
nsv977936 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
OTOA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTOA

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

Disorders for OTOA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 22
  • autosomal recessive nonsyndromic deafness 22
nonsyndromic hearing loss and deafness
dfnb22 nonsyndromic hearing loss and deafness
  • dfnb 22 nonsyndromic hearing loss and deafness
nonsyndromic deafness
  • nonsyndromic hearing loss
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- 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 (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. (PMID: 19888295) Shahin H … Kanaan M (European journal of human genetics : EJHG 2010) 3 22 60
  4. Genome-wide analysis of cancer/testis gene expression. (PMID: 19088187) Hofmann O … Hide W (Proceedings of the National Academy of Sciences of the United States of America 2008) 2 3 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for OTOA Gene

  • Addgene plasmids for OTOA

Sources for OTOA Gene

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