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22866 CNKSR2

22866

CNKSR2

connector enhancer of kinase suppressor of Ras 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition connector enhancer of kinase suppressor of Ras 2

研究结论

Date Results Publications
2021-01-09 13:27:00 Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES). 32197126
2020-05-09 13:48:00 This study enhances our knowledge of the CNKSR2 gene mutation spectrum and provides further information about the phenotypic characteristics of X-linked syndromic intellectual disability. 32245427
2018-09-01 10:25:00 High CNKSR2 expression is associated with breast cancer progression. 29534682
2016-03-19 10:11:00 CNKSR2 deletions: a novel cause of X-linked intellectual disability and seizures. 25754917
2014-12-27 11:20:00 This study describes the phenotype of CNKSR2 deficiency and its involvement in systems underlying common neurological 25223753

名称对应

Type IDs
Synonymous CNK2, KSR2, MAGUIN, MRXSHG
Gene
UniProtKB-ID: CNKR2_HUMAN, A0A2R8Y622_HUMAN, A0A2U3TZH5_HUMAN, A0A2R8Y7A1_HUMAN, B3KPN2_HUMAN, A0A2R8Y700_HUMAN
UniprotKB: Q8WXI2, A0A2R8Y622, A0A2U3TZH5, A0A2R8Y7A1, B3KPN2, A0A2R8Y700
UniParc: UPI0000212497, UPI0000070D72, UPI000013DBCE, UPI0008412435, UPI00004E0082, UPI000387AE8A, UPI00017A6E18, UPI0000418AFA, UPI0000072B5D
EMBL: CH471074, AL807781, AF418269, AL772392, BC126121, AB020709, AL928874, BC136289, AK294728, AK056549, BC143839, AF418270
Ensembl: ENSG00000149970
KO: hsa:22866
Nucleutide sequences
EMBL-CDS: BAG57875.1, AAL60502.1, BAA74925.2, EAW98977.1, AAL60503.1, AAI26122.1, AAI43840.1, AAI36290.1, BAG51744.1
Ensembl_TRS: ENST00000642359, ENST00000543067, ENST00000379510, ENST00000425654, ENST00000645791, ENST00000279451, ENST00000644585, ENST00000645245
Protein sequencees
Ensembl_PRO: ENSP00000444633, ENSP00000496709, ENSP00000397906, ENSP00000368824, ENSP00000494906, ENSP00000279451, ENSP00000495954, ENSP00000495695
RefSeq: XP_016884847.1, NP_001317699.1, XP_011543773.1, XP_011543774.1, NP_001162119.1, NP_001317700.1, NP_001162120.1, NP_001317702.1, NP_055742.2, NP_001317701.1, NP_001162118.1
Others
UniRef100: UniRef100_A0A2R8Y700, UniRef100_Q8WXI2, UniRef100_A0A2R8Y7A1, UniRef100_A0A2U3TZH5
UniRef90: UniRef90_Q8WXI2
UniRef50: UniRef50_Q8WXI2
UniGene: Hs.555917
CCDS: CCDS55389.1, CCDS55387.1, CCDS14198.1, CCDS55388.1

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