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163183 SYNE4

163183

SYNE4

spectrin repeat containing nuclear envelope family member 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition spectrin repeat containing nuclear envelope family member 4

研究结论

Date Results Publications
2013-05-18 11:37:00 progressive high-frequency hearing loss in 2 families of Iraqi Jewish ancestry was due to homozygosity for mutation SYNE4 c.228delAT. SYNE4, a gene not previously associated with hearing loss, encodes nesprin-4, a protein expressed in outer hair cells. 23348741

名称对应

Type IDs
Synonymous C19orf46, DFNB76, KASH4, Nesp4
Gene
UniProtKB-ID: SYNE4_HUMAN
UniprotKB: Q8N205
UniParc: UPI00006CA35A, UPI0000366DDA
EMBL: AF038458, AK093764, AC002116, BC052573
Ensembl: ENSG00000181392
KO: hsa:163183
Nucleutide sequences
EMBL-CDS: AAH52573.1, BAC04222.1
Ensembl_TRS: ENST00000324444, ENST00000340477
Protein sequencees
Ensembl_PRO: ENSP00000316130, ENSP00000343152
RefSeq: NP_001034965.1, NP_001284664.1
Others
UniRef100: UniRef100_Q8N205
UniRef90: UniRef90_Q8N205
UniRef50: UniRef50_Q8N205
UniGene: Hs.436743
CCDS: CCDS42553.1, CCDS77285.1

全选

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