Seroatlas · Human Serome Atlas

OTOGL

Otogelin-like protein

Also known as: C12orf64, FLJ90579, OTOGL_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q3ZCN5
Gene: OTOGL
Ensembl: ENSG00000165899
Chromosome: 12
Canonical length: 2353 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Cytosol
Secretome location: Secreted in other tissues

OverviewNCBI Gene

The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]

Canonical amino-acid sequenceUniProt

2353 residues, UniProt reviewed canonical sequence.

>Q3ZCN5|OTOGL
     1  MNIVRKLNLM IPWSIFLLHV LLFSLQEYIC ASSILMGTSK NGFNENRQKR ALLAAQFEAT
    61  SPRYFFHDAI NWGESKIKGS CPYECLNGAF CSKTGTCDCQ IFQALGTRCQ IIPNMGNGRD
   121  GICKTWGQYH FETFDGIYYY FPGNCSYIFA KDCGDLEPRY TVWVHNSPKC LGSVYSCYRS
   181  ISLFFSNQEE IRIYGHEIKK NGISLTLPQT IGQIFIEKLA DYILVKTTFG FSLAWDGISG
   241  IYLKLSEDHK GKSCGLCGNY NDIQSDDFII LQEDYTEDIA MFANSWSVQT PDDTKCVLTP
   301  SDFPNPCSSG MPAFEAIFFK CQILLQFPFL SCHEYIDPYL YIASCVNDLC KTDDDETYCR
   361  AATEYARACS HAGYPIQDWR DDFPACTDKC DDSFVHRDCI SCCPPTCTFE KQCLGSNLHC
   421  LDGCYCPDGL VMDNGTCISL ENCPCGFHGL AYSVGSKIEQ ECTECVCVGG VWNCTEQDCP
   481  VQCSVVGDSH FTTFDGRHYS FIGMCQYILV KGTGKDKFTI TLQKAPCEQN LGLVCLQSIT
   541  LILEDDFNKQ VTLGRGGQIL TSPNQGFNLN GIVEIQTLSS LFILLKTTFG LKILFAIDGE
   601  RIYIQLTSAW KRRTLGLCGT FNGNIRDDFL SPSGMIEGTP QLHANAWRVS STCFAPVHVP
   661  VVDPCNINQQ NIGYAAHCDV IHQELFAPCH IYISPGLYYQ LCRHDACKCG SSCLCNALAH
   721  YAYLCGQHGV PIDFRTQISF CAVVCQKGML YHHCSSFCLH SCISLSSPEQ CSDDCAEGCN
   781  CPEGKFYEDT LNFCVPIFHC RCHYRGSVYQ PGELIPTPSG LCQCSNGTVK CDELATPSAV
   841  HICPEGKEYF DCRFPDPELP AGGVNCETTC ANLAMNFTCT PSSPCISGCV CAPGMAEHRG
   901  KCYVPESCPC IWKDWEYLSG EVIATPCYTC VCRRGMFNCT YYPCPAVCTI YGDRHYYSFD
   961  GLEYDYISDC QVFLIKSADD SDISVIAQNK KCFDNDIVCS KSVLISVGDT EIYLNDTPYK
  1021  QKQSGFFLEN KSTYQLWKAG YYIVVYFPEK DITILWDRKT TIHIKVGPQW KNKLSGLCGN
  1081  FDKCTSNDMT TSNNLEVRNA RVFGDSWALG QCESPDETIK PCEAHQNKFP YAKKECSILY
  1141  SDIFASCRNV IDVTSFAKNC HEDTCNCNLG GDCECLCTSI AAYAYKCCQE GISIHWRSST
  1201  VCSLDCEYYN EGLGEGPYML ASYGQSGLVL GANMTSRSVF CLPRSSVHTS LFFYFMITPG
  1261  LFKEKVSSLA LVSLESAERP NYFLYVHDND TLSLELWEAN SAFHRRATFF HHQGLWIPGY
  1321  SAFELYSKKG FFIIFTDSSV KASKYDDSEE FKHSSSFSIE EIQAAVPYRK MCEWRYEPCA
  1381  TPCFKTCSDP EALACKFLPP VEGCLPYCPK NMILDEVTLK CVYPRDCIPV IPTEPTLMPP
  1441  AKPTVPMFTV WEMITPSDIT VFDMLTPTTG LECEPQKFDP VYDCSQYICL NMEWQLYNWS
  1501  LNCPKDVEMP DCGFRGRPVQ VNSDICCPEW ECPCRCSMLS ELSIITFDGN NAALYSMASY
  1561  ILVRIPGEII VAHIEKCSMN QNGNSLKKLA PSGRISGLCF KKLNVTTPIH KIIVNRLARK
  1621  VEVDSIVVPL PFSSQELSIE DSGSMYVITT PAGLIIKWSH LTGIIDIHFG FRFNLSSYTE
  1681  GLCGICNEDP DDDLRMQNGT IITNMEDIGL FIESWEIEKS FEVTMRRPVR NCTEHDCSQC
  1741  IDLLNRRIFI PCHDKVSPED FCEKMWINYT YFWNYECDAL SAYVALCNKF DICIQWRTPD
  1801  YCSLSCPEGK EYQPCVRPCE ARTCLNQWFY GHTSCLNLRE DCVCKVGTIL HRPHSAQCIP
  1861  EKECACTDSE DQPRTAGEIW NGGIDECTLY KCLENGSIIP IEPDCDEEPT PVCEREAEVV
  1921  MGIIDKWTCC SKEVCGCDTT LCETSIPTCT NSQKLIVGHS PLSCCPQYKC ECDPLKCPSI
  1981  STPECREDQF MIQVRQEEPC CFSPFCVCES CTKPVPLCHD GEFLTVDLNS THFCCPQYYC
  2041  VCEPNLCPMP LLNCAEDMNL VKENVSGQCC PTWHCECNCE NLIMPTCEVG EFTAIDHNFQ
  2101  SDCGCIQYLC EKDDVCVFQE VSVLNPGQSM IKYLEEDFCY AIECLEEKDN HTGFHTLNFT
  2161  LVNCSKKCDV HQVYTPSPSD YGCCGTCKNV SCKFHMENGT SVVYAVGSTW HYNCTTYECV
  2221  KTDEGAIILN YTMVCPPFNE TECKMNEGIV KLYNEGCCKI CKREERICQK VIIKSVIRKQ
  2281  DCMSQSPINV ASCDGKCPSA TIYNINIESH LRFCKCCREN GVRNLSVPLY CSGNGTEIMY
  2341  TLQEPIDCTC QWN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OTOGL 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: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 4.8 nTPM

Expression across tissuesHPA

Tissue

kidney: 4.8 nTPM
heart muscle: 4.1 nTPM
colon: 1.5 nTPM
pituitary gland: 0.8 nTPM
cerebral cortex: 0.7 nTPM
placenta: 0.5 nTPM

Single-cell type

medullary thymic epithelial cells: 197 nCPM
myonuclei: 83 nCPM
schwann cells: 71 nCPM
proximal tubule cells: 65 nCPM
oligodendrocyte progenitor cells: 60 nCPM
epididymal efferent duct absorptive cells: 52 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 4.4 nTPM
basal ganglia: 3 nTPM
white matter: 1.9 nTPM
pons: 1.8 nTPM
midbrain: 1.4 nTPM
amygdala: 1.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OTOGL.

Disease | AllUniProt

Conditions OTOGL is implicated in, by any mechanism.

Deafness, autosomal recessive, 84B (DFNB84B) MIM:614944

Disease | GeneticClinVar

106 pathogenic / likely-pathogenic of 1,246 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 84B
Rare genetic deafness
OTOGL-related disorder
Inborn genetic diseases
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): 0.9
gnomAD pLI: 0
gnomAD missense Z: 0.58

OntologyGO

Biological processes

inner ear receptor cell stereocilium organization
intracellular protein localization
L-arabinose metabolic process
vibrational conductance of sound to the inner ear

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

OTOGL is annotated as secreted, so native OTOGL circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

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

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