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OTOG otogelin [ Homo sapiens (human) ]

Gene ID: 340990, updated on 2-Nov-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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

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