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147912 SIX5

147912

SIX5

SIX homeobox 5

protein-coding

Homo sapiens

基因描述

Type Description
Definition SIX homeobox 5

研究结论

Date Results Publications
2017-12-02 11:07:00 the higher expressions of SIX1-5 were associated with the greater possibility of the tumorigenesis in lung neoplasms 27821176
2015-10-17 10:09:00 Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown.[review] 24730701
2012-07-14 11:23:00 In East Asian populations, a SIX1 mutation has been reported in a Japanese family with branchio-oto (BO) syndrome,yet SIX5 mutations have never been reported. 22447252
2011-03-26 10:23:00 Study reports a screening of 140 patients from 124 families with Branchio-oto-renal and identified 36 EYA1 mutations in 42 unrelated patients, 2 mutations, and 1 change of unknown significance in SIX1 in 3 unrelated patients, but no mutation in SIX5. 21280147
2010-04-07 21:40:00 Observational study of gene-disease association. (HuGE Navigator) 20198315

名称对应

Type IDs
Synonymous BOR2, DMAHP
Gene
UniProtKB-ID: SIX5_HUMAN
UniprotKB: Q8N196
UniParc: UPI0000366E2B
EMBL: BC033204, AK074826, BU859227, AC074212, X84813
Ensembl: ENSG00000177045
KO: hsa:147912
Nucleutide sequences
EMBL-CDS: AAH33204.1
Ensembl_TRS: ENST00000317578
Protein sequencees
Ensembl_PRO: ENSP00000316842
RefSeq: NP_787071.3
Others
UniRef100: UniRef100_Q8N196
UniRef90: UniRef90_Q8N196
UniRef50: UniRef50_Q8N196
UniGene: Hs.43314
CCDS: CCDS12673.1

全选

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研究热度

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