Seroatlas · Human Serome Atlas

OTOA

Otoancorin

Also known as: CT108, DFNB22, OTOAN_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q7RTW8
Gene: OTOA
Ensembl: ENSG00000155719
Chromosome: 16
Canonical length: 1153 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Secretome location: Secreted in other tissues

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1153 residues, UniProt reviewed canonical sequence.

>Q7RTW8|OTOA
     1  MSQEPTTYSL FLFLFLSHGV SSYTVPNSRQ DLHPLLQNMA EEIIDGSYLN ALLDLIQFQS
    61  SHVWTDDLSH RVLAYLNSRN VAFTIPSLQA AVENHLEQRL HQPQKLLEDL RKTDAQQFRT
   121  AMKCLLEDKK DGLDLKDIII DLGEIRERAL QSPGVNRSLF LITLERCFQM LNSLECVEIL
   181  GKVLRGSSGS FLQPDITERL PRDLREDAFK NLSAVFKDLY DKTSAHSQRA LYSWMTGILQ
   241  TSSNATDDSA SWVSAEHLWV LGRYMVHLSF EEITKISPIE IGLFISYDNA TKQLDMVYDI
   301  TPELAQAFLE RISSSNFNMR NTSTIHRQAH ELWALEPFPK MLGLLVCFYN DLELLDATVA
   361  QVLLYQMIKC SHLRGFQAGV QKLKAELLDI AMENQTLNET LGSLSDAVVG LTYSQLESLS
   421  PEAVHGAIST LNQVSGWAKS QVIILSAKYL AHEKVLSFYN VSQMGALLAG VSTQAFCSMK
   481  RKDISQVLRS AVSQYVSDLS PAQQQGILSK MVQAEDTAPG IVEIQGAFFK EVSLFDLRRQ
   541  PGFNSTVLKD KELGRSQALF LYELLLKTTR RPEELLSAGQ LVKGVTCSHI DAMSTDFFLA
   601  HFQDFQNNFA LLSPYQVNCL AWKYWEVSRL SMPPFLLAAL PARYLASVPA SQCVPFLISL
   661  GKSWLDSLVL DSHKKTSVLR KVQQCLDDSI ADEYTVDIMG NLLCHLPAAI IDRGISPRAW
   721  ATALHGLRDC PDLNPEQKAA VRLKLLGQYG LPQHWTAETT KDLGPFLVLF SGDELSSIAT
   781  KFPEILLQAA SKMARTLPTK EFLWAVFQSV RNSSDKIPSY DPMPGCHGVV APSSDDIFKL
   841  AEANACWALE DLRCMEEDTF IRTVELLGAV QGFSRPQLMT LKEKAIQVWD MPSYWREHHI
   901  VSLGRIALAL NESELEQLDL SSIDTVASLS WQTEWTPGQA ESILQGYLDD SGYSIQDLKS
   961  FHLVGLGATL CAINITEIPL IKISEFRVVV ARIGTLLCST HVLAEFKRKA EVVFGDPTEW
  1021  TSSVLQELGT IAAGLTKAEL RMLDKDLMPY FQPSAIKCLP DEIFKELSAE QIASLGPENA
  1081  AAVTHAQRRR LSPLQLQSLQ QALDGAKTHS WQDAPASAGP TRTSSSRSPA GALQSWGLWL
  1141  GCPLLVLMAK LLW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OTOA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 3.8 nTPM

Expression across tissuesHPA

Tissue

testis: 3.8 nTPM
spleen: 1.9 nTPM
cerebral cortex: 0.3 nTPM
liver: 0.3 nTPM
pituitary gland: 0.3 nTPM
spinal cord: 0.3 nTPM

Single-cell type

hofbauer cells: 52 nCPM
kupffer cells: 39 nCPM
late spermatids: 13 nCPM
adrenal medulla cells: 11 nCPM
macrophages: 9.6 nCPM
late primary spermatocytes: 6.7 nCPM

Immune cell

plasmacytoid DC: 1.3 nTPM
myeloid DC: 0.6 nTPM
classical monocyte: 0.1 nTPM
non-classical monocyte: 0.1 nTPM
basophil: 0 nTPM
eosinophil: 0 nTPM

Brain region

white matter: 0.5 nTPM
cerebral cortex: 0.4 nTPM
basal ganglia: 0.3 nTPM
medulla oblongata: 0.2 nTPM
pons: 0.2 nTPM
thalamus: 0.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OTOA.

Disease | AllUniProt

Conditions OTOA is implicated in, by any mechanism.

Deafness, autosomal recessive, 22 (DFNB22) MIM:607039

Disease | GeneticClinVar

89 pathogenic / likely-pathogenic of 782 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 22
Rare genetic deafness
OTOA-related disorder
Hearing loss, autosomal recessive
Monogenic hearing loss

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.69
gnomAD pLI: 0
gnomAD missense Z: 0.28
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Stereocilin-related

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads OTOA as an antibody target. Whether an autoantibody or antibody against OTOA could matter depends on whether native OTOA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OTOA is annotated at the cell surface, where native OTOA is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label OTOA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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