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 th... See more...

Aliases for OTOG Gene

Aliases for OTOG Gene

  • Otogelin 2 3 4 5
  • OTGN 2 3 4
  • FLJ46346 2
  • DFNB18B 3
  • MLEMP 3
  • Mlemp 2
  • OTOG 5

External Ids for OTOG Gene

Previous GeneCards Identifiers for OTOG Gene

  • GC11U990096
  • GC11P017534
  • GC11P017537
  • GC11P017252

Summaries for OTOG Gene

Entrez Gene Summary for OTOG 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]

GeneCards Summary for OTOG Gene

OTOG (Otogelin) is a Protein Coding gene. Diseases associated with OTOG include Deafness, Autosomal Recessive 18B and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Gene Ontology (GO) annotations related to this gene include structural molecule activity and alpha-L-arabinofuranosidase activity. An important paralog of this gene is MUC5AC.

UniProtKB/Swiss-Prot Summary for OTOG Gene

  • Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OTOG Gene

Genomics for OTOG Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OTOG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J017546 Promoter/Enhancer 1 Ensembl ENCODE 250.7 +0.0 42 0.6 ZIC2 SP2 KLF16 ZNF2 ZBTB48 ZNF189 PKNOX1 GLIS1 SP7 ZNF561 OTOG piR-51137-018 MYOD1
GH11J017549 Enhancer 0.4 Ensembl 250.7 +0.9 942 0.4 CTCF EGR2 ZNF143 ZFHX2 OTOG piR-51137-018 MYOD1
GH11J017548 Enhancer 0.3 ENCODE 250.7 +1.4 1380 0.1 CTCF OTOG piR-51137-018 MYOD1
GH11J017572 Enhancer 0.5 Ensembl 0.3 +25.5 25542 0.8 VEZF1 ZEB2 GABPA SPI1 CTBP1 LINC02729 OTOG piR-51137-018 MYOD1
GH11J017606 Enhancer 0.7 Ensembl 0.2 +59.2 59242 1 VEZF1 ATF1 ZNF589 CEBPG ATF4 ZMYM3 MEIS2 ARID1B CEBPB ATF3 ENSG00000254586 LINC02729 MYOD1 piR-51137-018 OTOG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OTOG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OTOG

Top Transcription factor binding sites by QIAGEN in the OTOG gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for OTOG Gene

Latest Assembly
chr11:17,547,259-17,647,150
(GRCh38/hg38)
Size:
99,892 bases
Orientation:
Plus strand

Previous Assembly
chr11:17,568,806-17,667,591
(GRCh37/hg19 by Entrez Gene)
Size:
98,786 bases
Orientation:
Plus strand

chr11:17,568,920-17,668,697
(GRCh37/hg19 by Ensembl)
Size:
99,778 bases
Orientation:
Plus strand

Genomic View for OTOG Gene

Genes around OTOG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTOG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTOG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTOG Gene

Proteins for OTOG Gene

  • Protein details for OTOG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZRI0-OTOG_HUMAN
    Recommended name:
    Otogelin
    Protein Accession:
    Q6ZRI0
    Secondary Accessions:
    • A8MTX6
    • A8MUJ0
    • B7WPC4

    Protein attributes for OTOG Gene

    Size:
    2925 amino acids
    Molecular mass:
    314794 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for OTOG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OTOG Gene

Post-translational modifications for OTOG Gene

  • N-glycosylated. Not O-glycosylated.
  • Glycosylation at Asn1478, Asn1612, and Asn914
  • Modification sites at PhosphoSitePlus

Other Protein References for OTOG Gene

No data available for DME Specific Peptides for OTOG Gene

Domains & Families for OTOG Gene

Gene Families for OTOG Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for OTOG Gene

InterPro:
Blocks:
  • Trypsin inhibitor-like, cysteine-rich TIL region
ProtoNet:

Suggested Antigen Peptide Sequences for OTOG Gene

GenScript: Design optimal peptide antigens:
  • Otogelin (OTOG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZRI0

UniProtKB/Swiss-Prot:

OTOG_HUMAN :
  • Belongs to the otogelin family.
Family:
  • Belongs to the otogelin family.
genes like me logo Genes that share domains with OTOG: view

Function for OTOG Gene

Molecular function for OTOG Gene

UniProtKB/Swiss-Prot Function:
Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity).

Phenotypes From GWAS Catalog for OTOG Gene

Gene Ontology (GO) - Molecular Function for OTOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IEA --
GO:0046556 alpha-L-arabinofuranosidase activity IEA --
genes like me logo Genes that share ontologies with OTOG: view
genes like me logo Genes that share phenotypes with OTOG: view

Human Phenotype Ontology for OTOG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OTOG Gene

MGI Knock Outs for OTOG:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTOG

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for OTOG Gene

Localization for OTOG Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTOG Gene

Apical cell membrane. Peripheral membrane protein. Extracellular side. Secreted, extracellular space. Note=Found in fiber-like structures during the maturation process of the tectorial membrane. {ECO:0000250 UniProtKB:O55225}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OTOG gene
Compartment Confidence
plasma membrane 4
extracellular 4
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
lysosome 0

Gene Ontology (GO) - Cellular Components for OTOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with OTOG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OTOG Gene

Pathways & Interactions for OTOG Gene

PathCards logo

SuperPathways for OTOG Gene

No Data Available

Gene Ontology (GO) - Biological Process for OTOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA --
GO:0008344 adult locomotory behavior IEA --
GO:0046373 L-arabinose metabolic process IEA --
genes like me logo Genes that share ontologies with OTOG: view

No data available for Pathways by source and SIGNOR curated interactions for OTOG Gene

Drugs & Compounds for OTOG Gene

No Compound Related Data Available

Transcripts for OTOG Gene

mRNA/cDNA for OTOG Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OTOG

Alternative Splicing Database (ASD) splice patterns (SP) for OTOG Gene

No ASD Table

Relevant External Links for OTOG Gene

GeneLoc Exon Structure for
OTOG

Expression for OTOG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OTOG Gene

mRNA differential expression in normal tissues according to GTEx for OTOG Gene

This gene is overexpressed in Pituitary (x22.2) and Testis (x22.2).

Protein differential expression in normal tissues from HIPED for OTOG Gene

This gene is overexpressed in Tlymphocyte (27.7), Heart (26.3), and Adipocyte (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OTOG Gene



Protein tissue co-expression partners for OTOG Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OTOG

SOURCE GeneReport for Unigene cluster for OTOG Gene:

Hs.688380

Evidence on tissue expression from TISSUES for OTOG Gene

  • Lung(3.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OTOG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with OTOG: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for OTOG Gene

Orthologs for OTOG Gene

This gene was present in the common ancestor of chordates.

Orthologs for OTOG Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia OTOG 30 31
  • 98.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OTOG 30 31
  • 87.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OTOG 30 31
  • 86.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Otog 30 17 31
  • 83.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Otog 30
  • 82.22 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia OTOG 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OTOG 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves OTOG 30 31
  • 57.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OTOG 31
  • 51 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34753 30
Zebrafish
(Danio rerio)
Actinopterygii OTOG 31
  • 45 (a)
OneToOne
Species where no ortholog for OTOG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for OTOG Gene

ENSEMBL:
Gene Tree for OTOG (if available)
TreeFam:
Gene Tree for OTOG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OTOG: view image

Paralogs for OTOG Gene

(2) SIMAP similar genes for OTOG Gene using alignment to 3 proteins:

  • OTOG_HUMAN
  • C9IZ84_HUMAN
  • H9KVB3_HUMAN
genes like me logo Genes that share paralogs with OTOG: view

Variants for OTOG Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OTOG Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
816640 Uncertain Significance: Ménière's disease 17,573,200(+) C/A
NM_001292063.2(OTOG):c.2203C>A (p.Pro735Thr)
MISSENSE
869476 Likely Pathogenic: Deafness, autosomal recessive 18b 17,634,218(+) CG/C
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs)
FRAMESHIFT
870667 Likely Pathogenic: Deafness, autosomal recessive 18b; not provided 17,569,177(+) C/T
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)
NONSENSE
870668 Uncertain Significance: not provided 17,593,239(+) G/A
NM_001292063.2(OTOG):c.3053G>A (p.Cys1018Tyr)
MISSENSE
870669 Uncertain Significance: not provided 17,635,639(+) G/A
NM_001292063.2(OTOG):c.7723G>A (p.Glu2575Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OTOG Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for OTOG Gene

Variant ID Type Subtype PubMed ID
esv1681924 CNV insertion 17803354
esv22735 CNV loss 19812545
esv2744157 CNV deletion 23290073
esv3335379 CNV duplication 20981092
esv3547374 CNV deletion 23714750
nsv1040065 CNV gain 25217958
nsv467715 CNV loss 19166990
nsv469895 CNV loss 16826518
nsv469938 CNV loss 18288195
nsv520453 CNV loss 19592680
nsv553567 CNV gain 21841781
nsv553586 CNV loss 21841781
nsv553587 CNV loss 21841781
nsv7693 CNV deletion 18451855
nsv7694 CNV insertion 18451855
nsv951314 CNV deletion 24416366
nsv951315 CNV deletion 24416366
nsv951316 CNV deletion 24416366

Variation tolerance for OTOG Gene

Gene Damage Index Score: 25.75; 99.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OTOG Gene

Human Gene Mutation Database (HGMD)
OTOG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTOG

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTOG Gene

Disorders for OTOG Gene

MalaCards: The human disease database

(22) MalaCards diseases for OTOG Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal recessive 18b
  • dfnb18b
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
rare genetic deafness
  • rare genetic hearing loss
branchiootic syndrome 1
  • bos1
autosomal recessive nonsyndromic deafness
  • deafness, autosomal recessive, nonsyndromic
- elite association - COSMIC cancer census association via MalaCards
Search OTOG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OTOG_HUMAN
  • Deafness, autosomal recessive, 18B (DFNB18B) [MIM:614945]: A form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow 'U' or slightly downsloping shaped audiograms. {ECO:0000269 PubMed:23122587}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for OTOG

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with OTOG: view

No data available for Genatlas for OTOG Gene

Publications for OTOG Gene

  1. Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. (PMID: 23122587) Schraders M … Kremer H (American journal of human genetics 2012) 3 4 74
  2. Targeted disruption of otog results in deafness and severe imbalance. (PMID: 10655058) Simmler MC … Panthier JJ (Nature genetics 2000) 2 3 23
  3. Mapping of the otogelin gene (OTGN) to mouse chromosome 7 and human chromosome 11p14.3: a candidate for human autosomal recessive nonsyndromic deafness DFNB18. (PMID: 10337628) Cohen-Salmon M … Petit C (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 3 23
  4. Otogelin: a glycoprotein specific to the acellular membranes of the inner ear. (PMID: 9405633) Cohen-Salmon M … Petit C (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3
  5. A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction. (PMID: 29800624) Yu S … Jung J (European journal of medical genetics 2019) 3

Products for OTOG Gene

Sources for OTOG Gene