OTOG (otogelin)

2014-11-01  

Identity

HGNC
LOCATION
11p15.1
LOCUSID
ALIAS
DFNB18B,MLEMP,OTGN

Other Information

Locus ID:

NCBI: 340990
MIM: 604487
HGNC: 8516
Ensembl: ENSG00000188162

Variants:

dbSNP: 340990
ClinVar: 340990
TCGA: ENSG00000188162
COSMIC: OTOG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188162ENST00000399391Q6ZRI0
ENSG00000188162ENST00000399397H9KVB3
ENSG00000188162ENST00000428619C9IZ84

Expression (GTEx)

0
1
2
3
4

References

Pubmed IDYearTitleCitations
385195952024An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population.0
385195952024An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population.0
341183842021Prediction and interpretation of rare missense variant in OTOG associated with hearing loss.1
341183842021Prediction and interpretation of rare missense variant in OTOG associated with hearing loss.1
331366352020Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.26
331366352020Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.26
298006242019A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction.5
298006242019A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction.5
243782912014Similar phenotypes caused by mutations in OTOG and OTOGL.11
243782912014Similar phenotypes caused by mutations in OTOG and OTOGL.11
231225872012Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.37
231225872012Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.37

Citation

Dessen P

OTOG (otogelin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71574/otog-(otogelin)