Otogelin

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)
End	17,647,150 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	45,960,858 bp
RNA expression pattern
	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
	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
	340990
	18419
	ENSG00000188162
	ENSMUSG00000009487
	Q6ZRI0
	O55225
	NM_198497; NM_001277269; NM_001292063
	NM_013624
	NP_001264198; NP_001278992
	NP_038652
	Wikidata
View/Edit Human	View/Edit Mouse

Otogelin is a protein that in humans is encoded by the OTOG gene. ^[5]

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.

References

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

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000188162 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] "Entrez Gene: Otogelin". Retrieved 2017-12-12.

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Function

Deafness

References

Further reading