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OTOS otospiralin [ Homo sapiens (human) ]

Gene ID: 150677, updated on 5-Aug-2022

Summary

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
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Genomic context

See OTOS in Genome Data Viewer
Location:
2q37.3
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240139026..240140658, complement)
110 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 COP9 signalosome subunit 9 Neighboring gene uncharacterized LOC107985836 Neighboring gene uncharacterized LOC105373968 Neighboring gene Sharpr-MPRA regulatory region 2002

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

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_148961.4NP_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:2189
    OTOS; Otospiralin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017003410.2XP_016858899.1  otospiralin isoform X2

    UniProtKB/Swiss-Prot
    Q53SW6, Q8NHW6
    Conserved Domains (1) summary
    pfam15182
    Location:2189
    OTOS; Otospiralin
  2. XM_017003409.2XP_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)