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284086 NEK8

284086

NEK8

NIMA related kinase 8

protein-coding

Homo sapiens

基因描述

Type Description
Definition NIMA related kinase 8

研究结论

Date Results Publications
2017-06-24 10:40:00 NEK8 plays a critical role in replication fork stability through its regulation of the DNA repair and replication fork protection protein RAD51. 27892797
2016-12-24 11:45:00 The mutations: c.2069_2070insC variant (p.Ter693LeufsTer86), and a c.1043C>T variant (p.Thr348Met) in RCC1 domain of NEK8 in two brothers with cardiac, renal, and hepatic anomalies 26697755
2016-08-13 10:54:00 our study demonstrates that NEK8 human mutations cause major organ developmental defects due to altered ciliogenesis and cell differentiation/proliferation through deregulation of the Hippo pathway 26967905
2015-05-09 12:19:00 NEK8 may be a new target gene of HIFs; pVHL can down-regulate NEK8 via HIFs to maintain the primary cilia structure in human renal cancer cells 25451921
2014-01-04 12:24:00 NEK8 is essential for organ development and that the complete loss of NEK8 perturbs multiple signalling pathways resulting in a severe early embryonic phenotype. 23418306

名称对应

Type IDs
Synonymous JCK, NEK12A, NPHP9, RHPD2
Gene
UniProtKB-ID: NEK8_HUMAN
UniprotKB: Q86SG6
UniParc: UPI000004B820
EMBL: BC113705, AL833909, CH471159, AY242354, AC010761, AY267371, BC112240
Ensembl: ENSG00000160602
KO: hsa:284086
Nucleutide sequences
EMBL-CDS: EAW51136.1, CAD38765.1, AAI13706.1, AAI12241.1, AAP04006.1, AAO88243.1
Ensembl_TRS: ENST00000268766
Protein sequencees
Ensembl_PRO: ENSP00000268766
RefSeq: NP_835464.1
Others
UniRef100: UniRef100_Q86SG6
UniRef90: UniRef90_Q86SG6
UniRef50: UniRef50_Q86SG6
UniGene: Hs.448468
CCDS: CCDS32597.1

全选

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研究热度

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