| Tdark | Otoancorin |
May act as an adhesion molecule.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Nonsyndromic deafness | 121 | 4.464 | 2.2 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hodgkin's lymphoma, nodular sclerosis | 24 | 3.233 | 1.6 |
| Gitelman syndrome | 7 | 3.082 | 1.5 |
| Disease | Target Count |
|---|---|
| Deafness, Autosomal Recessive 22 | 1 |
| Disease | Target Count |
|---|---|
| Deafness, autosomal recessive, 22 | 1 |
| PMID | Text | |
|---|---|---|
| 23173898 | A description of two novel OTOA mutations that were discovered in three consanguineous Pakistani families segregating autosomal recessive non-syndromic hearing impairment. | |
| 20379614 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | |
| 19888295 | Large deletions in OTOA gene is associated with hearing loss. |
MSQEPTTYSLFLFLFLSHGVSSYTVPNSRQDLHPLLQNMAEEIIDGSYLNALLDLIQFQSSHVWTDDLSH 1 - 70 RVLAYLNSRNVAFTIPSLQAAVENHLEQRLHQPQKLLEDLRKTDAQQFRTAMKCLLEDKKDGLDLKDIII 71 - 140 DLGEIRERALQSPGVNRSLFLITLERCFQMLNSLECVEILGKVLRGSSGSFLQPDITERLPRDLREDAFK 141 - 210 NLSAVFKDLYDKTSAHSQRALYSWMTGILQTSSNATDDSASWVSAEHLWVLGRYMVHLSFEEITKISPIE 211 - 280 IGLFISYDNATKQLDMVYDITPELAQAFLERISSSNFNMRNTSTIHRQAHELWALEPFPKMLGLLVCFYN 281 - 350 DLELLDATVAQVLLYQMIKCSHLRGFQAGVQKLKAELLDIAMENQTLNETLGSLSDAVVGLTYSQLESLS 351 - 420 PEAVHGAISTLNQVSGWAKSQVIILSAKYLAHEKVLSFYNVSQMGALLAGVSTQAFCSMKRKDISQVLRS 421 - 490 AVSQYVSDLSPAQQQGILSKMVQAEDTAPGIVEIQGAFFKEVSLFDLRRQPGFNSTVLKDKELGRSQALF 491 - 560 LYELLLKTTRRPEELLSAGQLVKGVTCSHIDAMSTDFFLAHFQDFQNNFALLSPYQVNCLAWKYWEVSRL 561 - 630 SMPPFLLAALPARYLASVPASQCVPFLISLGKSWLDSLVLDSHKKTSVLRKVQQCLDDSIADEYTVDIMG 631 - 700 NLLCHLPAAIIDRGISPRAWATALHGLRDCPDLNPEQKAAVRLKLLGQYGLPQHWTAETTKDLGPFLVLF 701 - 770 SGDELSSIATKFPEILLQAASKMARTLPTKEFLWAVFQSVRNSSDKIPSYDPMPGCHGVVAPSSDDIFKL 771 - 840 AEANACWALEDLRCMEEDTFIRTVELLGAVQGFSRPQLMTLKEKAIQVWDMPSYWREHHIVSLGRIALAL 841 - 910 NESELEQLDLSSIDTVASLSWQTEWTPGQAESILQGYLDDSGYSIQDLKSFHLVGLGATLCAINITEIPL 911 - 980 IKISEFRVVVARIGTLLCSTHVLAEFKRKAEVVFGDPTEWTSSVLQELGTIAAGLTKAELRMLDKDLMPY 981 - 1050 FQPSAIKCLPDEIFKELSAEQIASLGPENAAAVTHAQRRRLSPLQLQSLQQALDGAKTHSWQDAPASAGP 1051 - 1120 TRTSSSRSPAGALQSWGLWLGCPLLVLMAKLLW 1121 - 1153 //
| PMID | Year | Title | |
|---|---|---|---|
| 23173898 | 2013 | Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families. | |
| 20379614 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | ||
| 19888295 | 2010 | Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. | |
| 19139490 | 2009 | A strategy for precise and large scale identification of core fucosylated glycoproteins. | |
| 19088187 | 2008 | Genome-wide analysis of cancer/testis gene expression. | |
| 15616553 | 2004 | The sequence and analysis of duplication-rich human chromosome 16. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 11972037 | 2002 | 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. |
