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Gene: OTOG (otogelin) Homo sapiens
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Symbol: OTOG
Name: otogelin
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DFNB18B; FLJ46346; mlemp; OTGN
Orthologs:
Mus musculus (house mouse) : Otog (otogelin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Otog (otogelin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Otog (otogelin)
Pan paniscus (bonobo/pygmy chimpanzee) : OTOG (otogelin)
Canis lupus familiaris (dog) : OTOG (otogelin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Otog (otogelin)
Sus scrofa (pig) : OTOG (otogelin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381117,547,259 - 17,646,044 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371117,568,920 - 17,667,491 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361117,525,496 - 17,624,067 (+)NCBINCBI36hg18NCBI36
Build 341117,556,386 - 17,617,057NCBI
Celera1117,698,900 - 17,797,429 (+)NCBI
Cytogenetic Map11p15.1NCBI
HuRef1117,252,782 - 17,351,629 (+)NCBIHuRef
CHM1_11117,568,738 - 17,667,255 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Disease Annotations
Gene-Chemical Interaction Annotations
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References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
 
More on OTOG
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1315323
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.