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    OTOS otospiralin [ Homo sapiens (human) ]

    Gene ID: 150677, updated on 10-Dec-2024

    Summary

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    Official Symbol
    OTOSprovided by HGNC
    Official Full Name
    otospiralinprovided by HGNC
    Primary source
    HGNC:HGNC:22644
    See related
    Ensembl:ENSG00000178602 MIM:607877; AllianceGenome:HGNC:22644
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OTOSP
    Summary
    Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008]
    Expression
    Restricted expression toward thyroid (RPKM 6.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See OTOS in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240139026..240140658, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (240631800..240633432, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241078443..241080075, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 5 subfamily S member 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17395 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241078745-241079469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241079470-241080193 Neighboring gene COP9 signalosome subunit 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241094499-241094998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241107126-241107741 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:241137725-241137897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241139753-241140254 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:241144761-241145650 Neighboring gene uncharacterized LOC107985836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241164252-241164752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241164753-241165253 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241166101-241166602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241166603-241167102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241173123-241173664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241174911-241175411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241175540-241176144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241190663-241191176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241191177-241191688 Neighboring gene uncharacterized LOC105373968 Neighboring gene Sharpr-MPRA regulatory region 2002

    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. Genetic variation in Otos is associated with cisplatin-induced ototoxicity. Spracklen TF, et al. Pharmacogenomics, 2014 Sep. PMID 25410892
    2. Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin. Lavigne-Rebillard M, et al. Neurogenetics, 2003 Apr. PMID 12687421
    3. Downregulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness. Delprat B, et al. J Neurosci, 2002 Mar 1. PMID 11880501, Free PMC Article
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    5. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    otospiralin

    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.

    mRNA and Protein(s)

    1. NM_148961.4 → NP_683764.1  otospiralin precursor

      See identical proteins and their annotated locations for NP_683764.1

      Status: VALIDATED

      Source sequence(s)
      AC013469, AI201810, BX118794
      Consensus CDS
      CCDS2533.1
      UniProtKB/Swiss-Prot
      Q53SW6, Q8NHW6
      Related
      ENSP00000322486.1, ENST00000319460.2
      Conserved Domains (1) summary
      pfam15182
      Location:21 → 89
      OTOS; Otospiralin

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      240139026..240140658 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003410.2 → XP_016858899.1  otospiralin isoform X2

      UniProtKB/Swiss-Prot
      Q53SW6, Q8NHW6
      Conserved Domains (1) summary
      pfam15182
      Location:21 → 89
      OTOS; Otospiralin

    2. XM_017003409.2 → XP_016858898.1  otospiralin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      240631800..240633432 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340657.1 → XP_054196632.1  otospiralin isoform X2

      UniProtKB/Swiss-Prot
      Q53SW6, Q8NHW6

    2. XM_054340656.1 → XP_054196631.1  otospiralin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHW6.1 GenPept UniProtKB/Swiss-Prot:Q8NHW6

    Gene LinkOut

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

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