Identity
HGNC
LOCATION
Xp22.12
LOCUSID
ALIAS
CNK2,KSR2,MAGUIN,MRXSHG
FUSION GENES
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
Expression (GTEx)
Pathways
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/cancer-prone-explorer/
