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340990 OTOG

340990

OTOG

otogelin

protein-coding

Homo sapiens

基因描述

Type Description
Definition otogelin

研究结论

Date Results Publications
2019-03-09 11:10:00 A novel truncation mutation in OTOG gene is associated with prelingual mild hearing loss without vestibular dysfunction. 29800624
2015-02-07 10:53:00 Patients with OTOG mutation show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good and vestibular hyporeflexia is present. 24378291
2013-03-02 10:47:00 study reports the identification of mutations in OTOG as a cause of moderate nonsyndromic hearing loss 23122587

名称对应

Type IDs
Synonymous DFNB18B, MLEMP, OTGN
Gene
UniProtKB-ID: OTOG_HUMAN, H9KVB3_HUMAN
UniprotKB: Q6ZRI0, H9KVB3
UniParc: UPI0000251E9C, UPI0001662628, UPI00003E41F6
EMBL: KC877393, AK128214, AC124799
Ensembl: ENSG00000188162
KO: hsa:340990
Nucleutide sequences
EMBL-CDS: BAC87330.1
Ensembl_TRS: ENST00000399391, ENST00000399397
Protein sequencees
Ensembl_PRO: ENSP00000382323, ENSP00000382329
RefSeq: NP_001264198.1, NP_001278992.1
Others
UniRef100: UniRef100_Q6ZRI0, UniRef100_H9KVB3
UniRef90: UniRef90_Q6ZRI0
UniRef50: UniRef50_Q6ZRI0
UniGene: Hs.688380
CCDS: CCDS76390.1

全选

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研究热度

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