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OTOG
Identifiers
Aliases	OTOG, DFNB18B, MLEMP, OTGN, otogelin
External IDs	OMIM: 604487; MGI: 1202064; HomoloGene: 8421; GeneCards: OTOG; OMA:OTOG - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11p15.1 Start 17,547,259 bp End 17,647,150 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 B3|7 29.66 cM Start 45,890,411 bp End 45,960,858 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad ventricular zone ganglionic eminence right testis left testis Pituitary Gland granulocyte anterior pituitary superior frontal gyrus prefrontal cortex Top expressed in saccule utricle vestibular sensory epithelium otic vesicle vestibular membrane of cochlear duct otic placode cochlea epithelium of macula of saccule of membranous labyrinth muscle of thigh morula More reference expression data BioGPS n/a
Gene ontology Molecular function structural molecule activity alpha-L-arabinofuranosidase activity Cellular component extracellular region plasma membrane apical plasma membrane membrane extracellular space Biological process adult locomotory behavior hearing L-arabinose metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 340990 18419 Ensembl ENSG00000188162 ENSMUSG00000009487 UniProt Q6ZRI0 O55225 RefSeq (mRNA) NM_198497 NM_001277269 NM_001292063 NM_013624 RefSeq (protein) NP_001264198 NP_001278992 NP_038652 Location (UCSC) Chr 11: 17.55 – 17.65 Mb Chr 7: 45.89 – 45.96 Mb PubMed search
Wikidata
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Otogelin is a protein that in humans is encoded by the OTOG gene.

Function

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. .

Deafness

If people don't have otogelin or otogelin-like they are born with mild or moderate deafness.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000188162 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000009487 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Otogelin". Retrieved 2017-12-12.

Further reading

• Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H (2012). "Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment". Am. J. Hum. Genet. 91 (5): 883–9. doi:10.1016/j.ajhg.2012.09.012. PMC 3487128. PMID 23122587.

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