OTOA (otoancorin)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
146183
Gene name Gene Name - the full gene name approved by the HGNC.
Otoancorin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OTOA
Synonyms (NCBI Gene) Gene synonyms aliases
CT108, DFNB22
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p12.2|16p12.2
Summary Summary of gene provided in NCBI Entrez 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 t
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
SNP ID Visualize variation Clinical significance Consequence
rs464696 A>C,G Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, non coding transcript variant, coding sequence variant
rs147088274 G>A,T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant, genic upstream transcript variant
rs148690740 G>A Pathogenic Splice donor variant
rs200656442 G>A Pathogenic Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs200988634 G>T Likely-pathogenic, uncertain-significance Non coding transcript variant, stop gained, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0007160 Process Cell-matrix adhesion IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607038 16378 ENSG00000155719
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q7RTW8
Protein name Otoancorin
Protein function May act as an adhesion molecule.
Family and domains
Sequence 
MSQEPTTYSLFLFLFLSHGVSSYTVPNSRQDLHPLLQNMAEEIIDGSYLNALLDLIQFQS
SHVWTDDLSHRVLAYLNSRNVAFTIPSLQAAVENHLEQRLHQPQKLLEDLRKTDAQQFRT
AMKCLLEDKKDGLDLKDIIIDLGEIRERALQSPGVNRSLFLITLERCFQMLNSLECVEIL
GKVLRGSSGSFLQPDITERLPRDLREDAFKNLSAVFKDLYDKTSAHSQRALYSWMTGILQ
TSSNATDDSASWVSAEHLWVLGRYMVHLSFEEITKISPIEIGLFISYDNATKQLDMVYDI
TPELAQAFLERISSSNFNMRNTSTIHRQAHELWALEPFPKMLGLLVCFYNDLELLDATVA
QVLLYQMIKCSHLRGFQAGVQKLKAELLDIAMENQTLNETLGSLSDAVVGLTYSQLESLS
PEAVHGAISTLNQVSGWAKSQVIILSAKYLAHEKVLSFYNVSQMGALLAGVSTQAFCSMK
RKDISQVLRSAVSQYVSDLSPAQQQGILSKMVQAEDTAPGIVEIQGAFFKEVSLFDLRRQ
PGFNSTVLKDKELGRSQALFLYELLLKTTRRPEELLSAGQLVKGVTCSHIDAMSTDFFLA
HFQDFQNNFALLSPYQVNCLAWKYWEVSRLSMPPFLLAALPARYLASVPASQCVPFLISL
GKSWLDSLVLDSHKKTSVLRKVQQCLDDSIADEYTVDIMGNLLCHLPAAIIDRGISPRAW
ATALHGLRDCPDLNPEQKAAVRLKLLGQYGLPQHWTAETTKDLGPFLVLFSGDELSSIAT
KFPEILLQAASKMARTLPTKEFLWAVFQSVRNSSDKIPSYDPMPGCHGVVAPSSDDIFKL
AEANACWALEDLRCMEEDTFIRTVELLGAVQGFSRPQLMTLKEKAIQVWDMPSYWREHHI
VSLGRIALALNESELEQLDLSSIDTVASLSWQTEWTPGQAESILQGYLDDSGYSIQDLKS
FHLVGLGATLCAINITEIPLIKISEFRVVVARIGTLLCSTHVLAEFKRKAEVVFGDPTEW
TSSVLQELGTIAAGLTKAELRMLDKDLMPYFQPSAIKCLPDEIFKELSAEQIASLGPENA
AAVTHAQRRRLSPLQLQSLQQALDGAKTHSWQDAPASAGPTRTSSSRSPAGALQSWGLWL
GCPLLVLMAKLLW
Sequence length 1153
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Post-translational modification: synthesis of GPI-anchored proteins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal recessive nonsyndromic hearing loss 22 rs148690740, rs751447996, rs1060499804, rs774366025, rs1567396832, rs775776282, rs1567381218, rs200656442 N/A
Hearing Loss Hearing loss, autosomal recessive rs200656442 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
hearing impairment Hearing impairment N/A N/A ClinVar
Usher Syndrome usher syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 35135489
Deafness Associate 16460646, 30740825, 33095980
Deafness Autosomal Recessive 22 Associate 31204719
Hearing Loss Associate 16460646, 19888295, 25528277, 31204719, 31527525, 33492714, 33753912
Hearing Loss Sensorineural Associate 39769235
Leukemia Myeloid Acute Associate 30289875
Neoplasms Associate 19088187
Nonsyndromic Deafness Associate 30740825
Osteoarthritis Associate 33579305