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64787 EPS8L2

64787

EPS8L2

EPS8 like 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition EPS8 like 2

研究结论

Date Results Publications
2016-04-30 11:14:00 frame-shift variant (c.1014delC; p.Ser339Alafs*15) was identified in EPS8L2, encoding Epidermal growth factor receptor Pathway Substrate 8 L2, a protein of hair cells' stereocilia previously implicated in progressive deafness in the mouse 26282398

名称对应

Type IDs
Synonymous DFNB106, EPS8R2
Gene
UniProtKB-ID: ES8L2_HUMAN
UniprotKB: Q9H6S3
UniParc: UPI000189A786, UPI000006F7AA, UPI000006226C
EMBL: BC093878, BC101481, AC131934, AK025588, AF318331, BC143242, AY074929, BC080636, AK025824, AK094539, AK222903, AP006621, AK027765
Ensembl: ENSG00000177106
KO: hsa:64787
Nucleutide sequences
EMBL-CDS: BAD96623.1, AAH93878.1, AAH80636.1, AAL55838.1, AAI43243.1, AAI01482.1, BAB55354.1, BAB15248.1, BAG52883.1, AAL76118.1, BAB15180.1
Gene_ORFName: PP13181
Ensembl_TRS: ENST00000526198, ENST00000318562, ENST00000530636, ENST00000614442, ENST00000533256
Protein sequencees
Ensembl_PRO: ENSP00000320828, ENSP00000435585, ENSP00000480201, ENSP00000436035, ENSP00000436230
RefSeq: XP_016873620.1, NP_073609.2, XP_016873621.1
Others
UniRef100: UniRef100_Q9H6S3
UniRef90: UniRef90_Q9H6S3
UniRef50: UniRef50_Q9H6S3
UniGene: Hs.55016
CCDS: CCDS31328.1

全选

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研究热度

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