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Aliases for OTOG Gene

Aliases for OTOG Gene

  • Otogelin 2 3 3 5
  • OTGN 3 4
  • DFNB18B 3
  • MLEMP 3

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. GO annotations related to this gene include structural molecule activity and alpha-L-arabinofuranosidase activity. An important paralog of this gene is OTOGL.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTOG Gene

Genomics for OTOG Gene

Regulatory Elements for OTOG Gene

Enhancers for OTOG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F017546 1.2 Ensembl ENCODE 0.8 +0.2 241 1.5 CTCF PKNOX1 KLF17 ZIC2 ZNF2 ZNF101 E2F1 ZFHX2 GLIS2 ZBTB48 USH1C OTOG GC11P017559
GH11F017548 0.6 ENCODE 0.8 +1.3 1266 0.1 CTCF ZFHX2 TEAD4 EGR2 OTOG GC11P017559
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around OTOG on UCSC Golden Path with GeneCards custom track

Genomic Location for OTOG Gene

Chromosome:
11
Start:
17,547,373 bp from pter
End:
17,647,150 bp from pter
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

Other Protein References for OTOG Gene

No data available for DME Specific Peptides for OTOG Gene

Domains & Families for OTOG Gene

Suggested Antigen Peptide Sequences for OTOG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZRI0

UniProtKB/Swiss-Prot:

OTOG_HUMAN :
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.
  • Belongs to the otogelin family.
Domain:
  • Contains 1 CTCK (C-terminal cystine knot-like) domain.
  • Contains 1 EGF-like domain.
  • Contains 1 TIL (trypsin inhibitory-like) domain.
  • Contains 4 VWFD domains.
Family:
  • Belongs to the otogelin family.
genes like me logo Genes that share domains with OTOG: view

No data available for Gene Families for OTOG Gene

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).

Gene Ontology (GO) - Molecular Function for OTOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity 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:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for OTOG Gene COMPARTMENTS Subcellular localization image for OTOG gene
Compartment Confidence
extracellular 4
plasma membrane 4
lysosome 1
vacuole 1

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 IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with OTOG: view

Pathways & Interactions for OTOG Gene

SuperPathways for OTOG Gene

No Data Available

Interacting Proteins for OTOG Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000382323%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000382323 Q6ZRI0-OTOG_HUMAN for OTOG Gene via STRING IID

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

Transcripts for OTOG Gene

mRNA/cDNA for OTOG Gene

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OTOG Gene

Otogelin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for OTOG Gene

GeneLoc Exon Structure for
OTOG
ECgene alternative splicing isoforms for
OTOG

Expression for OTOG Gene

mRNA expression in normal human tissues 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

NURSA nuclear receptor signaling pathways regulating expression of OTOG Gene:

OTOG

SOURCE GeneReport for Unigene cluster for OTOG Gene:

Hs.688380
genes like me logo Genes that share expression patterns with OTOG: view

Primer Products

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 34 35
  • 98.9 (n)
dog
(Canis familiaris)
Mammalia OTOG 34 35
  • 87.02 (n)
cow
(Bos Taurus)
Mammalia OTOG 34 35
  • 86.49 (n)
mouse
(Mus musculus)
Mammalia Otog 34 16 35
  • 83.59 (n)
rat
(Rattus norvegicus)
Mammalia Otog 34
  • 82.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OTOG 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OTOG 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves OTOG 34 35
  • 57.3 (n)
lizard
(Anolis carolinensis)
Reptilia OTOG 35
  • 51 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34753 34
zebrafish
(Danio rerio)
Actinopterygii OTOG 35
  • 45 (a)
OneToOne
Species where no ortholog for OTOG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for OTOG Gene

Paralogs for OTOG Gene

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

genes like me logo Genes that share paralogs with OTOG: view

Variants for OTOG Gene

Sequence variations from dbSNP and Humsavar for OTOG Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs397514607 Deafness, autosomal recessive, 18B (DFNB18B) [MIM:614945], Pathogenic 17,612,638(+) CTTCC(C/T)TGACC reference, missense
rs397514608 Pathogenic 17,613,696(+) TCAAC(C/T)GAAAG reference, stop-gained
rs876657656 Likely pathogenic 17,574,879(+) ACCTA(-/ACTGGACACCCA)TCTGG cds-indel
rs876657657 Likely pathogenic 17,553,478(+) CCCTG(-/G)TGGGT reference, frameshift-variant
rs113745835 Likely benign 17,573,095(+) TGCAG(A/G)CCTGC reference, missense

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)

Relevant External Links for OTOG Gene

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

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

Disorders for OTOG Gene

MalaCards: The human disease database

(4) MalaCards diseases for OTOG Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 18b
  • autosomal recessive nonsyndromic deafness 18b
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
autosomal recessive nonsyndromic deafness
nonsyndromic deafness
  • nonsyndromic hearing loss
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for OTOG

Genetic Association Database (GAD)
OTOG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OTOG
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. (Am. J. Hum. Genet. 2012) 3 4 64
  2. Targeted disruption of otog results in deafness and severe imbalance. (PMID: 10655058) Simmler M.C. … Panthier J.J. (Nat. Genet. 2000) 3 22 64
  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. (Mamm. Genome 1999) 3 22 64
  4. Otogelin: a glycoprotein specific to the acellular membranes of the inner ear. (PMID: 9405633) Cohen-Salmon M. … Petit C. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 64
  5. Otolith tethering in the zebrafish otic vesicle requires Otogelin and I+-Tectorin. (PMID: 25758224) Stooke-Vaughan G.A. … Whitfield T.T. (Development 2015) 3 64

Products for OTOG Gene

Sources for OTOG Gene

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