Otogelin

Otogelin is a protein that in humans is encoded by the OTOG gene.

OTOG
Identifiers
Aliases	OTOG, DFNB18B, MLEMP, OTGN, otogelin
External IDs	OMIM: 604487 MGI: 1202064 HomoloGene: 8421 GeneCards: OTOG
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 ganglionic eminence pituitary gland anterior pituitary superior frontal gyrus prefrontal cortex putamen caudate nucleus hippocampus proper hepatobiliary system islet of Langerhans Top expressed in saccule utricle otic placode cochlea morula stria vascularis skeletal muscle tissue quadriceps femoris muscle blastocyst lens 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 sensory perception of sound 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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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. [provided by RefSeq, May 2014].

Deafness

If people don't have otogelin or otogelin-like they are born with mild or moderate deafness. [1]

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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.