CNKSR2 (connector enhancer of kinase suppressor of Ras 2)

2018-11-01 Affiliation

Identity

HGNC

CNKSR2

LOCATION

Xp22.12

LOCUSID

22866

ALIAS

CNK2,KSR2,MAGUIN,MRXSHG

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000149970	ENST00000279451	A0A2U3TZH5
ENSG00000149970	ENST00000379510	Q8WXI2
ENSG00000149970	ENST00000425654	Q8WXI2
ENSG00000149970	ENST00000543067	Q8WXI2
ENSG00000149970	ENST00000642359	Q8WXI2
ENSG00000149970	ENST00000642501	A0A2R8YE27
ENSG00000149970	ENST00000643156	A0A2R8Y604
ENSG00000149970	ENST00000643171	A0A2R8Y7K8
ENSG00000149970	ENST00000643220	A0A2R8Y5S6
ENSG00000149970	ENST00000643313	A0A2R8YE71
ENSG00000149970	ENST00000643841	A0A2R8YDB6
ENSG00000149970	ENST00000644095	A0A2R8YGJ7
ENSG00000149970	ENST00000644295	A0A2R8YED7
ENSG00000149970	ENST00000644585	A0A2R8Y7A1
ENSG00000149970	ENST00000644798	A0A2R8Y5R2
ENSG00000149970	ENST00000645074	A0A2R8YFM1
ENSG00000149970	ENST00000645245	A0A2R8Y700
ENSG00000149970	ENST00000645791	A0A2R8Y622
ENSG00000149970	ENST00000646697	A0A2R8YE65

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
RAF/MAP kinase cascade	REACTOME	R-HSA-5673001
MAP2K and MAPK activation	REACTOME	R-HSA-5674135
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated MAPK activation	REACTOME	R-HSA-2871796
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-2 signaling	REACTOME	R-HSA-451927
Interleukin receptor SHC signaling	REACTOME	R-HSA-912526
Interleukin-3, 5 and GM-CSF signaling	REACTOME	R-HSA-512988
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
GRB2 events in EGFR signaling	REACTOME	R-HSA-179812
SHC1 events in EGFR signaling	REACTOME	R-HSA-180336
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
SOS-mediated signalling	REACTOME	R-HSA-112412
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Signalling to ERKs	REACTOME	R-HSA-187687
Signalling to RAS	REACTOME	R-HSA-167044
Signalling to p38 via RIT and RIN	REACTOME	R-HSA-187706
Prolonged ERK activation events	REACTOME	R-HSA-169893
Frs2-mediated activation	REACTOME	R-HSA-170968
ARMS-mediated activation	REACTOME	R-HSA-170984
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by SCF-KIT	REACTOME	R-HSA-1433557
MAPK family signaling cascades	REACTOME	R-HSA-5683057
MAPK1/MAPK3 signaling	REACTOME	R-HSA-5684996
Signaling by GPCR	REACTOME	R-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Signaling by Leptin	REACTOME	R-HSA-2586552
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
RET signaling	REACTOME	R-HSA-8853659
Oncogenic MAPK signaling	REACTOME	R-HSA-6802957
Signaling by RAS mutants	REACTOME	R-HSA-6802949
Signaling by high-kinase activity BRAF mutants	REACTOME	R-HSA-6802948
Signaling by moderate kinase activity BRAF mutants	REACTOME	R-HSA-6802946
Paradoxical activation of RAF signaling by kinase inactive BRAF	REACTOME	R-HSA-6802955
Signaling by BRAF and RAF fusions	REACTOME	R-HSA-6802952

References

Pubmed ID	Year	Title	Citations
35053419	2022	Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders.	4
35053419	2022	Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders.	4
33591602	2021	Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.	1
33591602	2021	Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.	1
32197126	2020	Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).	7
32245427	2020	Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability.	4
33298018	2020	Psychomotor development and attention problems caused by a splicing variant of CNKSR2.	5
32197126	2020	Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).	7
32245427	2020	Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability.	4
33298018	2020	Psychomotor development and attention problems caused by a splicing variant of CNKSR2.	5
29534682	2018	Regulation of CNKSR2 protein stability by the HECT E3 ubiquitin ligase Smurf2, and its role in breast cancer progression.	8
29534682	2018	Regulation of CNKSR2 protein stability by the HECT E3 ubiquitin ligase Smurf2, and its role in breast cancer progression.	8
25754917	2015	CNKSR2 deletions: a novel cause of X-linked intellectual disability and seizures.	14
25754917	2015	CNKSR2 deletions: a novel cause of X-linked intellectual disability and seizures.	14
25223753	2014	Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.	24

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/favicon/js/css/lib/dataTables.bootstrap.min.css