OTOS otospiralin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study indicates a potentially protective role for the variant G alleles of SNPs rs77124181 and rs2291767 in Otos against the development of cisplatin-induced ototoxicity
Title: Genetic variation in Otos is associated with cisplatin-induced ototoxicity.
OTOSP spans 1630 nucleotides, has 4 exons & encodes a 567-base cDNA. OTOSP is on chromosome 2 at position q37.3. Beside intronic polymorphisms, a rare variant (Pro7Leu) was found in deafness patients & controls, excluding it as a genetic deafness gene.
Title: Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin.

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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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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)

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

240139026..240140658 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017003410.2 → XP_016858899.1 otospiralin isoform X2

UniProtKB/Swiss-Prot

Q53SW6, Q8NHW6

Conserved Domains (1) summary

pfam15182
Location:21 → 89

OTOS; Otospiralin
XM_017003409.2 → XP_016858898.1 otospiralin isoform X1