Otogelin

Protein-coding gene in the species Homo sapiens
OTOG
Identifiers
AliasesOTOG, DFNB18B, MLEMP, OTGN, otogelin
External IDsOMIM: 604487; MGI: 1202064; HomoloGene: 8421; GeneCards: OTOG; OMA:OTOG - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for OTOG
Genomic location for OTOG
Band11p15.1Start17,547,259 bp[1]
End17,647,150 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for OTOG
Genomic location for OTOG
Band7 B3|7 29.66 cMStart45,890,411 bp[2]
End45,960,858 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 7: 45.89 – 45.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. [1]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188162 – Ensembl, May 2017
  2. ^ a b c 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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This article incorporates text from the United States National Library of Medicine, which is in the public domain.