Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	146183
Gene name	Otoancorin
Gene symbol	OTOA
Synonyms (NCBI Gene)	CT108DFNB22
Chromosome	16
Chromosome location	16p12.2\|16p12.2
Summary	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

18 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
rs376382794	G>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs587777133	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs727503350	G>T	Pathogenic	Splice donor variant, 5 prime UTR variant
rs751447996	T>-	Likely-pathogenic, pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs770892393	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs774366025	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs775776282	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs876657716	CTGCTT>A	Pathogenic, likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs879255431	G>A	Pathogenic-likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs886044667	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1060499804	A>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1567381218	T>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1567396832	G>T	Likely-pathogenic	Splice donor variant

14 Show/Hide all (14)

GO ID	Ontology	Definition	Evidence
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
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0009986	Component	Cell surface	IBA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0098552	Component	Side of membrane	IEA

MIM	HGNC	e!Ensembl
607038	16378	ENSG00000155719

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	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

Reactome Pathway
Post-translational modification: synthesis of GPI-anchored proteins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (6)
Autosomal recessive nonsyndromic hearing loss 22	Likely pathogenic; Pathogenic	rs1898923522, rs200656442, rs2141700836, rs2141723087, rs760573914, rs2141716542, rs2507039180, rs1212308982, rs148690740, rs770159048, rs1567381218, rs2507033909, rs2507129824, rs368330662, rs764779350 View all (6 more)	RCV001330389 RCV000087054 RCV003155417 RCV001822940 RCV006269472 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 7	Pathogenic	rs2141700836	RCV001822929	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs200656442, rs2141658932	RCV001291114 RCV001553784	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OTOA-related disorder	Likely pathogenic; Pathogenic	rs760573914, rs148690740, rs2507063979, rs1271983360, rs751447996, rs376382794	RCV003416448 RCV003917478 RCV003414294 RCV003966647 RCV003392258 RCV004752954 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs727503350, rs148690740, rs876657716, rs201002358, rs766405305, rs751447996, rs770892393, rs775776282	RCV000151585 RCV000151587 RCV000222173 RCV004018003 RCV004018200 RCV000612240 RCV000607866 RCV001195540 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs760573914	RCV005922456	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (15)
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 22	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 7	—	Disgenet	19888295	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	34586374	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic genetic hearing loss	Benign; Likely benign	ClinVar ClinGen	ClinGen report	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome	Benign; Likely benign	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (20)
Adrenogenital Syndrome	Adrenogenital Syndrome	BEFREE	31028847		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	31028847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
COMPLEMENT COMPONENT 2 DEFICIENCY	Complement Component Deficiency	BEFREE	31028847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	31028847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	31028847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	16460646, 30740825, 33095980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 22	Deafness	Pubtator	31204719	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	11972037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 22	Deafness	GENOMICS_ENGLAND_DG	23173898		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 22	Deafness	CLINVAR_DG	30828794		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 22	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	16460646, 19888295, 25528277, 31204719, 31527525, 33492714, 33753912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	39769235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30289875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	11972037, 16460646, 19888295, 23129639, 23173898, 25528277, 26029705, 26969326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33579305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	31028847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2N	Von Willebrand Disorder	BEFREE	31028847		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
KCNQ4	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","GenCC (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
ESRRB	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
MYO3A	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","GenCC (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CCDC50	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Hereditary hearing loss","nonsyndromic genetic hearing loss"]	[]	9	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","GenCC (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","ClinVar (Hereditary hearing loss)","ClinGen (nonsyndromic genetic hearing loss)"]
CIB2	5	["Isolated sensorineural deafness","Nonsyndromic hearing loss","Deafness","Usher syndrome","nonsyndromic genetic hearing loss"]	[]	10	["Disgenet (Isolated sensorineural deafness)","Disgenet (Nonsyndromic hearing loss)","ClinVar (Nonsyndromic hearing loss)","CTD (Deafness)","Disgenet (Deafness)","HPO (Deafness)","Disgenet (Hearing loss)","GWAS catalog (Hearing loss)","Disgenet (Usher syndrome)","ClinGen (nonsyndromic genetic hearing loss)"]

OTOA (otoancorin)

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