OTOG

Protein identityUniProt · HPA

UniProt accession

Q6ZRI0

Gene

OTOG

Ensembl

ENSG00000188162

Chromosome

11

Canonical length

2925 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 a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

Canonical amino-acid sequenceUniProt

2925 residues, UniProt reviewed canonical sequence.

>Q6ZRI0|OTOG
     1  MGVLASALCW LLCVWLPWGE QAAESLRVQR LGERVVDSGR SGARGMRNVK GMRNGPAQTR
    61  VSSSSSHQEA TLAMGDKATV VGGQQAEAPD SVAMSSWERR LHRAKCAPSY LFSCFNGGEC
   121  VHPAFCDCRR FNATGPRCQM VYNAGPERDS ICRAWGQHHV ETFDGLYYYL SGKGSYTLVG
   181  RHEPEGQSFS IQVHNDPQCG SSPYTCSRAV SLFFVGEQEI HLAKEVTHGG MRVQLPHVMG
   241  SARLQQLAGY VIVRHQSAFT LAWDGASAVY IKMSPELLGW THGLCGNNNA DPKDDLVTSS
   301  GKLTDDVVEF VHSWQEQAPN QPPGPTTSSL PRPPCLQQNP GTMQGVYEQC EALLRPPFDA
   361  CHAYVSPLPF TASCTSDLCQ SMGDVATWCR ALAEYARACA QAGRPLQGWR TQLRQCTVHC
   421  KEKAFTYNEC IACCPASCHP RASCVDSEIA CVDGCYCPNG LIFEDGGCVA PAECPCEFHG
   481  TLYPPGSVVK EDCNTCTCTS GKWECSTAVC PAECSVTGDI HFTTFDGRRY TFPATCQYIL
   541  AKSRSSGTFT VTLQNAPCGL NQDGACVQSV SVILHQDPRR QVTLTQAGDV LLFDQYKIIP
   601  PYTDDAFEIR RLSSVFLRVR TNVGVRVLYD REGLRLYLQV DQRWVEDTVG LCGTFNGNTQ
   661  DDFLSPVGVP ESTPQLFGNS WKTLSACSPL VSGSPLDPCD VHLQAASYSV QACSVLTGEM
   721  FAPCSAFLSP VPYFEQCRRD ACRCGQPCLC ATLAHYAHLC RRHGLPVDFR ARLPACALSC
   781  EASKEYSPCV APCGRTCQDL ASPEACGVDG GDDLSRDECV EGCACPPDTY LDTQADLCVP
   841  RNQCSCHFQG VDYPPGDSDI PSLGHCHCKD GVMSCDSRAP AAACPAGQVF VNCSDLHTDL
   901  ELSRERTCEQ QLLNLSVSAR GPCLSGCACP QGLLRHGDAC FLPEECPCTW KGKEYFPGDQ
   961  VMSPCHTCVC QRGSFQCTLH PCASTCTAYG DRHYRTFDGL PFDFVGACKV HLVKSTSDVS
  1021  FSVIVENVNC YSSGMICRKF ISINVGNSLI VFDDDSGNPS PESFLDDKQE VHTWRVGFFT
  1081  LVHFPQEHIT LLWDQRTTVH VQAGPQWQGQ LAGLCGNFDL KTINEMRTPE NLELTNPQEF
  1141  GSSWAAVECP DTLDPRDMCV LNPLREPFAK KECSILLSEV FEICHPVVDV TWFYSNCLTD
  1201  TCGCSQGGDC ECFCASVSAY AHQCCQHGVA VDWRTPRLCP YDCDFFNKVL GKGPYQLSSL
  1261  AAGGALVGMK AVGDDIVLVR TEDVAPADIV SFLLTAALYK AKAHDPDVVS LEAADRPNFF
  1321  LHVTANGSLE LAKWQGRDTF QQHASFLLHR GTRQAGLVAL ESLAKPSSFL YVSGAVLALR
  1381  LYEHTEVFRR GTLFRLLDAK PSGAAYPICE WRYDACASPC FQTCRDPRAA SCRDVPRVEG
  1441  CVPVCPTPQV LDEVTQRCVY LEDCVEPAVW VPTEALGNET LPPSQGLPTP SDEEPQLSQE
  1501  SPRTPTHRPA LTPAAPLTTA LNPPVTATEE PVVSPGPTQT TLQQPLELTA SQLPAGPTES
  1561  PASKGVTASL LAIPHTPESS SLPVALQTPT PGMVSGAMET TRVTVIFAGS PNITVSSRSP
  1621  PAPRFPLMTK AVTVRGHGSL PVRTTPPQPS LTASPSSRPV ASPGAISRSP TSSGSHKAVL
  1681  TPAVTKVISR TGVPQPTQAQ SASSPSTPLT VAGTAAEQVP VSPLATRSLE IVLSTEKGEA
  1741  GHSQPMGSPA SPQPHPLPSA PPRPAQHTTM ATRSPALPPE TPAAASLSTA TDGLAATPFM
  1801  SLESTRPSQL LSGLPPDTSL PLAKVGTSAP VATPGPKASV ITTPLQPQAT TLPAQTLSPV
  1861  LPFTPAAMTQ AHPPTHIAPP AAGTAPGLLL GATLPTSGVL PVAEGTASMV SVVPRKSTTG
  1921  KVAILSKQVS LPTSMYGSAE GGPTELTPAT SHPLTPLVAE PEGAQAGTAL PVPTSYALSR
  1981  VSARTAPQDS MLVLLPQLAE AHGTSAGPHL AAEPVDEATT EPSGRSAPAL SIVEGLAEAL
  2041  ATTTEANTST TCVPIAEQDC VRHICLEGQL IRVNQSQHCP QGAAPPRCGI LGLAVRVGGD
  2101  RCCPLWECAC RCSIFPDLSF VTFDGSHVAL FKEAIYILSQ SPDEMLTVHV LDCKSANLGH
  2161  LNWPPFCLVM LNMTHLAHQV TIDRFNRKVT VDLQPVWPPV SRYGFRIEDT GHMYMILTPS
  2221  DIQIQWLHSS GLMIVEASKT SKAQGHGLCG ICDGDAANDL TLKDGSVVGG AEDPAPFLDS
  2281  WQVPSSLTSV GQTRFRPDSC ATTDCSPCLR MVSNRTFSAC HRFVPPESFC ELWIRDTKYV
  2341  QQPCVALTVY VAMCHKFHVC IEWRRSDYCP FLCSSDSTYQ ACVTACEPPK TCQDGILGPL
  2401  DPEHCQVLGE GCVCSEGTIL HRRHSALCIP EAKCACTDSM GVPRALGETW NSSLSGCCQH
  2461  QCQAPDTIVP VDLGCPSPRP ESCLRFGEVA LLLPTKDPCC LGTVCVCNQT LCEGLAPTCR
  2521  PGHRLLTHFQ EDSCCPSYSC ECDPDLCEAE LVPSCRQDQI LITGRLGDSC CTSYFCACGD
  2581  CPDSIPECQE GEALTVHRNT TELCCPLYQC VCENFRCPQV QCGLGTALVE VWSPDRCCPY
  2641  KSCECDCDTI PVPRCHLWEK SQLDEEFMHS VENVCGCAKY ECVKAPVCLS RELGVMQPGQ
  2701  TVVELSADGV CHTSRCTTVL DPLTNFYQIN TTSVLCDIHC EANQEYEHPR DLAACCGSCR
  2761  NVSCLFTFPN GTTSLFLPGA SWIADCARHH CSSTPLGAVL VRSPISCPPL NETECAKVGG
  2821  SVVPSLEGCC RTCKEDGRSC KKVTIRMTIR KNECRSSTPV NLVSCDGRCP SASIYNYNIN
  2881  TYARFCKCCR EVGLQRRSVQ LFCATNATWV PYTVQEPTDC ACQWS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OTOG 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

Highest tissue expression

1.2 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OTOG.

Disease | AllUniProt

Conditions OTOG is implicated in, by any mechanism.

• Deafness, autosomal recessive, 18B (DFNB18B) MIM:614945

Disease | GeneticClinVar

135 pathogenic / likely-pathogenic of 1,514 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 18B
• Rare genetic deafness
• OTOG-related disorder
• Monogenic hearing loss
• Hearing impairment

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)

0.75

gnomAD pLI

0

gnomAD missense Z

1.92

DepMap mean gene effect

0.11

DepMap dependency class

none

OntologyGO

Biological processes

• L-arabinose metabolic process
• nervous system development

Molecular functions

• alpha-L-arabinofuranosidase activity
• extracellular matrix structural constituent

Cellular components

• apical plasma membrane
• extracellular matrix
• extracellular space

Protein domainsUniProt · Pfam · InterPro

• EGF-like domain
• VWFC domain
• von Willebrand factor, type D domain
• Trypsin Inhibitor-like, cysteine rich domain
• Cystine knot, C-terminal
• Alpha-L-arabinofuranosidase B, arabinose-binding domain
• VWF/SSPO/Zonadhesin-like, cysteine-rich domain
• Serine protease inhibitor-like superfamily
• Alpha-L-arabinofuranosidase B, arabinose-binding domain superfamily
• Mucin/von Willebrand/Thrombospondin superfamily
• Otogelin-like/Mucin, TIL domain
• Otogelin-like, N-terminal domain
• Otogelin-like, Fn1-VW hybrid domain
• von Willebrand factor type D domain
• Trypsin Inhibitor like cysteine rich domain
• Alpha-L-arabinofuranosidase B (ABFB) domain
• C8 domain
• Von Willebrand factor-like domain
• Otogelin-like Fn1-VW hybrid domain
• Otogelin-like N-terminal
• Otogelin-like/Mucin TIL domain

KeywordsUniProt

• Cell membrane
• Deafness
• Disulfide bond
• EGF-like domain
• Glycoprotein
• Membrane
• Non-syndromic deafness
• Repeat
• Secreted
• Signal