Type | Description |
---|---|
Definition | connector enhancer of kinase suppressor of Ras 2 |
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 |
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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