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OTOS otospiralin [ Homo sapiens (human) ]

Gene ID: 150677, updated on 7-Apr-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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Location:
2q37.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240139026..240140658, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (240631800..240633432, complement)
105.20220307 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: 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. 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. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (8) 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)

Genotypes

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_2023_10

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

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