CNKSR2 (connector enhancer of kinase suppressor of Ras 2)

2018-11-01  

Identity

HGNC
LOCATION
Xp22.12
LOCUSID
ALIAS
CNK2,KSR2,MAGUIN,MRXSHG
FUSION GENES

Other Information

Locus ID:

NCBI: 22866
MIM: 300724
HGNC: 19701
Ensembl: ENSG00000149970

Variants:

dbSNP: 22866
ClinVar: 22866
TCGA: ENSG00000149970
COSMIC: CNKSR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149970ENST00000279451A0A2U3TZH5
ENSG00000149970ENST00000379510Q8WXI2
ENSG00000149970ENST00000425654Q8WXI2
ENSG00000149970ENST00000543067Q8WXI2
ENSG00000149970ENST00000642359Q8WXI2
ENSG00000149970ENST00000642501A0A2R8YE27
ENSG00000149970ENST00000643156A0A2R8Y604
ENSG00000149970ENST00000643171A0A2R8Y7K8
ENSG00000149970ENST00000643220A0A2R8Y5S6
ENSG00000149970ENST00000643313A0A2R8YE71
ENSG00000149970ENST00000643841A0A2R8YDB6
ENSG00000149970ENST00000644095A0A2R8YGJ7
ENSG00000149970ENST00000644295A0A2R8YED7
ENSG00000149970ENST00000644585A0A2R8Y7A1
ENSG00000149970ENST00000644798A0A2R8Y5R2
ENSG00000149970ENST00000645074A0A2R8YFM1
ENSG00000149970ENST00000645245A0A2R8Y700
ENSG00000149970ENST00000645791A0A2R8Y622
ENSG00000149970ENST00000646697A0A2R8YE65

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
RAF/MAP kinase cascadeREACTOMER-HSA-5673001
MAP2K and MAPK activationREACTOMER-HSA-5674135
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated MAPK activationREACTOMER-HSA-2871796
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-2 signalingREACTOMER-HSA-451927
Interleukin receptor SHC signalingREACTOMER-HSA-912526
Interleukin-3, 5 and GM-CSF signalingREACTOMER-HSA-512988
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
GRB2 events in EGFR signalingREACTOMER-HSA-179812
SHC1 events in EGFR signalingREACTOMER-HSA-180336
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
SOS-mediated signallingREACTOMER-HSA-112412
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Signalling to RASREACTOMER-HSA-167044
Signalling to p38 via RIT and RINREACTOMER-HSA-187706
Prolonged ERK activation eventsREACTOMER-HSA-169893
Frs2-mediated activationREACTOMER-HSA-170968
ARMS-mediated activationREACTOMER-HSA-170984
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated cell proliferationREACTOMER-HSA-5218921
Signaling by SCF-KITREACTOMER-HSA-1433557
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK1/MAPK3 signalingREACTOMER-HSA-5684996
Signaling by GPCRREACTOMER-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Signaling by LeptinREACTOMER-HSA-2586552
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
RET signalingREACTOMER-HSA-8853659
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by RAS mutantsREACTOMER-HSA-6802949
Signaling by high-kinase activity BRAF mutantsREACTOMER-HSA-6802948
Signaling by moderate kinase activity BRAF mutantsREACTOMER-HSA-6802946
Paradoxical activation of RAF signaling by kinase inactive BRAFREACTOMER-HSA-6802955
Signaling by BRAF and RAF fusionsREACTOMER-HSA-6802952

References

Pubmed IDYearTitleCitations
182870312008CNK and HYP form a discrete dimer by their SAM domains to mediate RAF kinase signaling.14
145976742003Human homologue of Drosophila CNK interacts with Ras effector proteins Raf and Rlf.13
252237532014Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.13
257549172015CNKSR2 deletions: a novel cause of X-linked intellectual disability and seizures.5
295346822018Regulation of CNKSR2 protein stability by the HECT E3 ubiquitin ligase Smurf2, and its role in breast cancer progression.3
322454272020Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability.0

Citation

Dessen P

CNKSR2 (connector enhancer of kinase suppressor of Ras 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57650/cnksr2-(connector-enhancer-of-kinase-suppressor-of-ras-2)