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    OTOG otogelin [ Homo sapiens (human) ]

    Gene ID: 340990, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OTOGprovided by HGNC
    Official Full Name
    otogelinprovided by HGNC
    Primary source
    HGNC:HGNC:8516
    See related
    Ensembl:ENSG00000188162 MIM:604487; AllianceGenome:HGNC:8516
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OTGN; MLEMP; DFNB18B
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See OTOG in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (17547259..17646044)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (17644992..17743744)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17568806..17667591)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily C member 8 Neighboring gene uncharacterized LOC124902641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17514781-17515280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17516552-17517052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17517053-17517553 Neighboring gene USH1 protein network component harmonin Neighboring gene ReSE screen-validated silencer GRCh37_chr11:17550891-17551094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17623679-17624178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17626113-17626614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17666796-17667296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17667297-17667797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17672009-17672509 Neighboring gene Sharpr-MPRA regulatory region 4357 Neighboring gene Sharpr-MPRA regulatory region 13094 Neighboring gene long intergenic non-protein coding RNA 2729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17736199-17736699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17742067-17742578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17742579-17743090 Neighboring gene myogenic differentiation 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population. Parra-Perez AM, et al. Hum Genet, 2024 Mar. PMID 38519595, Free PMC Article
    2. Prediction and interpretation of rare missense variant in OTOG associated with hearing loss. Askari M, et al. Genomics, 2021 Jul. PMID 34118384
    3. Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease. Roman-Naranjo P, et al. Ear Hear, 2020 Nov/Dec. PMID 33136635
    4. A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction. Yu S, et al. Eur J Med Genet, 2019 Jan. PMID 29800624
    5. Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Schraders M, et al. Am J Hum Genet, 2012 Nov 2. PMID 23122587, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population.
      Title: An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population.
    2. Prediction and interpretation of rare missense variant in OTOG associated with hearing loss.
      Title: Prediction and interpretation of rare missense variant in OTOG associated with hearing loss.
    3. Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.
      Title: Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.
    4. A novel truncation mutation in OTOG gene is associated with prelingual mild hearing loss without vestibular dysfunction.
      Title: A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction.
    5. Patients with OTOG mutation show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good and vestibular hyporeflexia is present.
      Title: Similar phenotypes caused by mutations in OTOG and OTOGL.
    6. study reports the identification of mutations in OTOG as a cause of moderate nonsyndromic hearing loss
      Title: Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 18B
    MedGen: C3554163 OMIM: 614945 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46346

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-L-arabinofuranosidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-arabinose metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    otogelin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033191.2 RefSeqGene

      Range
      4887..103672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001277269.2 → NP_001264198.1  otogelin isoform a precursor

      See identical proteins and their annotated locations for NP_001264198.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC124799, KC877393
      Consensus CDS
      CCDS76390.1
      UniProtKB/Swiss-Prot
      A8MTX6, A8MUJ0, B7WPC4, Q6ZRI0
      Related
      ENSP00000382323.2, ENST00000399391.7
      Conserved Domains (11) summary
      smart00041
      Location:2842 → 2924
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00215
      Location:476 → 511
      VWC_out; von Willebrand factor (vWF) type C domain
      smart00216
      Location:503 → 668
      VWD; von Willebrand factor (vWF) type D domain
      smart00832
      Location:1166 → 1240
      C8; This domain contains 8 conserved cysteine residues
      PHA03247
      Location:1476 → 2041
      PHA03247; large tegument protein UL36; Provisional
      cd19941
      Location:780 → 844
      TIL; trypsin inhibitor-like cysteine rich domain
      pfam00094
      Location:152 → 302
      VWD; von Willebrand factor type D domain
      pfam01826
      Location:426 → 474
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:349 → 412
      C8; C8 domain
      cl21454
      Location:2676 → 2736
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
      cl23781
      Location:1305 → 1396
      Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

    2. NM_001292063.2 → NP_001278992.1  otogelin isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites and includes an additional exon, which together result in an alternate in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC124799, KC877393
      Consensus CDS
      CCDS59225.2
      UniProtKB/TrEMBL
      H9KVB3
      Related
      ENSP00000382329.2, ENST00000399397.6
      Conserved Domains (11) summary
      smart00041
      Location:2830 → 2912
      CT; C-terminal cystine knot-like domain (CTCK)
      smart00215
      Location:464 → 499
      VWC_out; von Willebrand factor (vWF) type C domain
      smart00216
      Location:491 → 656
      VWD; von Willebrand factor (vWF) type D domain
      smart00832
      Location:1154 → 1228
      C8; This domain contains 8 conserved cysteine residues
      PHA03247
      Location:1464 → 2029
      PHA03247; large tegument protein UL36; Provisional
      cd19941
      Location:768 → 832
      TIL; trypsin inhibitor-like cysteine rich domain
      pfam00094
      Location:140 → 290
      VWD; von Willebrand factor type D domain
      pfam01826
      Location:414 → 462
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:337 → 400
      C8; C8 domain
      cl21454
      Location:2664 → 2724
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
      cl23781
      Location:1293 → 1384
      Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      17547259..17646044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      17644992..17743744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198497.1: Suppressed sequence

      Description
      NM_198497.1: This RefSeq was permanently suppressed because the transcript is partial and there is currently insufficient support for the full-length nature of this variant.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZRI0.3 GenPept UniProtKB/Swiss-Prot:Q6ZRI0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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