OTOA Gene
protein-coding GIFtS: 46
GCID: GC16P021689
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|
otoancorin(Previous names: deafness, autosomal recessive 22 )
(Previous symbol: DFNB22)
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Aliases
for OTOA gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Otoancorin1 | | DFNB221 2 5 | | CT1081 2 | | Deafness, Autosomal Recessive 221 | | Cancer/Testis Antigen 1082 |
Export aliases for OTOA gene to outside databasesPrevious GC identifers: GC16P021150 GC16P021698 GC16P021656 GC16P021597 GC16P020071 |
Summaries
for OTOA gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for OTOA:
The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface betweenthe apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that thisprotein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlyingnonsensory 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 byRefSeq, Sep 2009)
UniProtKB/Swiss-Prot: OTOAN_HUMAN, Q7RTW8Function: May act as an adhesion molecule
|
Genomic Views
for OTOA gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010393.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the OTOA gene promoter:
Pax-5 Pax-6 RREB-1 HSF1 (long) CUTL1 GATA-1 HSF2 HSF1short
Other transcription factors
Search SABiosciences Chromatin IP Primers for OTOA
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTOA |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16p12.2|16p12.2 Ensembl cytogenetic band: 16p12.2 HGNC cytogenetic band: 16p12.2OTOA Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P021689: view genomic region
(about GC identifiers)
Start:
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21,689,835 bp from pter |
End:
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21,772,050 bp from pter |
Size:
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82,216 bases |
Orientation:
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plus strand |
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Proteins
for OTOA gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: OTOAN_HUMAN, Q7RTW8 (See
protein sequence)Recommended Name: Otoancorin precursor Size: 1153 amino acids; 128533 Da
Subcellular location: Apical cell membrane; Lipid-anchor, GPI-anchor; Extracellular side (Probable). Secreted,extracellular space, extracellular matrix (Probable). Note=At the interface between the apical surface of theepithelia and the overlying acellular gel of the tectorial and otoconial membranes (By similarity)
Sequence caution: Sequence=AK057335; Type=Frameshift; Positions=1139;
Secondary accessions: A1L3A8 A2VDI0 B3KWU3 E9PF51 Q8NA86 Q96M76Alternative splicing: 5 isoforms: Q7RTW8-1 Q7RTW8-2 Q7RTW8-3 Q7RTW8-4 Q7RTW8-5 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for OTOA: NX_Q7RTW8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7RTW8
OTOA Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001155155.1 NP_653273.3 NP_733764.1
ENSEMBL proteins: ENSP00000286149 ENSP00000373610 ENSP00000373608 ENSP00000373609
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005578 | proteinaceous extracellular matrix |
IEA | -- | | GO:0016324 | apical plasma membrane |
IEA | -- | | GO:0031225 | anchored to membrane |
IEA | -- |
OTOA for ontologies About GeneDecksing
OTOA Antibody Products:
Assay Products for OTOA: |
Protein
Domains /
Families
for OTOA gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
OTOA for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q7RTW8ProtoNet protein and cluster: Q7RTW8 UniProtKB/Swiss-Prot: OTOAN_HUMAN, Q7RTW8Similarity: Belongs to the stereocilin family |
Function
for OTOA gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: OTOAN_HUMAN, Q7RTW8Function: May act as an adhesion molecule
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTOA (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTOA (see all 3)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOA |
|
Pathways & Interactions
for OTOA gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OTOA
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007605 | sensory perception of sound |
IEA | -- |
OTOA for ontologies About GeneDecksing
|
Drugs & Compounds
for OTOA gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for OTOA
Search CenterWatch for drugs/clinical trials and news about OTOA / OTOAN
|
Transcripts
for OTOA gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for OTOA gene (3 alternative transcripts): NM_001161683.1 NM_144672.3 NM_170664.2 Unigene Cluster for OTOA: Otoancorin Hs.408336 [show with all ESTs]Unigene Representative Sequence: NM_1446727 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000286149 ENST00000388958(uc002djh.3) ENST00000388956(uc010vbj.2)
ENST00000388957(uc002dji.3) ENST00000569064 ENST00000563871(uc010vbk.2)
ENST00000563506
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTOA (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AK093062.1 AK125840.1 AK302733.1 BC038458.1 BC129992.1 BC129993.1 6 DOTS entries: DT.100019525 DT.101982055 DT.100019526 DT.97817379 DT.99936814 DT.95358409 20 AceView cDNA sequences: BK000099 AX747895 NM_144672 NM_170664 AK125840 AK093062 BV176563 BC038458 BC040551 BG177023 BI459722 BI561486 BG216075 AI300783 BM455441 AK057335 BG105996 BG184449 AI867309 BG219824
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for OTOA About this scheme
| 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 | ^ |
|---|
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| SP1: | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 26 |
|---|
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| SP1: | | | |
| SP2: | | | |
| SP3: | | | |
| SP4: | | |
ECgene alternative splicing isoforms for OTOA
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Expression
for OTOA gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| OTOA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTAGAGACA
About this image
See OTOA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for OTOA
SOURCE GeneReport for Unigene cluster: Hs.408336
SABiosciences Custom PCR Arrays for OTOA
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OTOA
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOA |
Orthologs
for OTOA gene
(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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for OTOA gene from 3/12 species (see all 12) About this table
ENSEMBL Gene Tree for OTOA (if available)
TreeFam Gene Tree for OTOA (if available) |
Paralogs
for OTOA gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for OTOA gene
- STRC2
OTOA for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for OTOA
PGOHUM00000249020
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Genomic Variants
for OTOA gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for OTOA (21689835 - 21772050 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 25 variations for OTOA
15/20 CNVs (see all 20): 72505 2206 32101 53527 9275 34612 9276 3995 37556 8818 66955 3114 30760 8817 34613
5 Inversions: 37178 0481 29493 29492 0482
Human Gene Mutation Database (HGMD): OTOA
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OTOA |
|
Disorders
/ Diseases
for OTOA gene
(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.)
About This Section
|
OTOA for disorders About GeneDecksing
OMIM gene information: 607038
OMIM disorders: 607039
UniProtKB/Swiss-Prot: OTOAN_HUMAN, Q7RTW8
Defects in OTOA are the cause of deafness autosomal recessive type 22 (DFNB22) [MIM:607039]. DFNB22 is a formof 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
4  diseases for OTOA: About MalaCardsdeafness, autosomal recessive 22 hearing loss papillary transitional carcinoma pneumonia
1 disease from the University of Copenhagen DISEASES database for OTOA:Papillary transitional carcinoma Human Genome Epidemiology (HuGE) Navigator: OTOA (1 document)
Export disorders for OTOA gene to outside databases
|
Publications
for OTOA gene (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)
About This Section
|
PubMed articles for OTOA gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with OTOA) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (PubMed id 11972037)1, 2, 3 Zwaenepoel I.... Petit C. (2002)
- Genome-wide analysis of cancer/testis gene expression . (PubMed id 19088187)1, 3 Hofmann O....Hide W. (2008)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. (PubMed id 19888295)1, 9 Shahin H....Kanaan M. (2010)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- 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. (2002)
- Deafness and Heredita ry Hearing Loss Overview (PubMed id 20301607)1 Smith R.J.H....Van Camp G. (1993)
- Mesothelin, Stereocilin, and Otoancorin are predicted to have superhelical structures with ARM-type repeats. (PubMed id 19128473)9 Sathyanarayana B.K....Lee B. (2009)
|
External Searches for OTOA gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing OTOA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing OTOA gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing OTOA gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for OTOA | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for OTOA gene:
Search GeneIP for patents involving OTOA
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for OTOA gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for OTOA | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTOA | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OTOA | | | OriGene Protein Over-expression Lysate for OTOA | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for OTOA | | OriGene 3'-UTR Clone for OTOA | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OTOA | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OTOA | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for OTOA | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat OTOA | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OTOA | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTOA | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OTOA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OTOA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTOA |
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