Identity
HGNC
LOCATION
Xp11.4
LOCUSID
ALIAS
CAGH39,CAMGUK,CMG,FGS4,LIN2,MICPCH,MRXSNA,TNRC8,hCASK
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: 8573
MIM: 300172
HGNC: 1497
Ensembl: ENSG00000147044
Variants:
dbSNP: 8573
ClinVar: 8573
TCGA: ENSG00000147044
COSMIC: CASK
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38670634 | 2024 | Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein. | 0 |
| 38670634 | 2024 | Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein. | 0 |
| 36754160 | 2023 | Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating α-synuclein in Parkinson's disease. | 1 |
| 37628707 | 2023 | Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein. | 2 |
| 36754160 | 2023 | Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating α-synuclein in Parkinson's disease. | 1 |
| 37628707 | 2023 | Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein. | 2 |
| 35281599 | 2022 | Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families. | 3 |
| 35670295 | 2022 | Pathogenic variants in CASK: Expanding the genotype-phenotype correlations. | 5 |
| 36168867 | 2022 | Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders. | 2 |
| 35281599 | 2022 | Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families. | 3 |
| 35670295 | 2022 | Pathogenic variants in CASK: Expanding the genotype-phenotype correlations. | 5 |
| 36168867 | 2022 | Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders. | 2 |
| 33090494 | 2021 | Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization. | 12 |
| 33548214 | 2021 | CASK regulates Notch pathway and functions as a tumor promoter in pancreatic cancer. | 7 |
| 33629417 | 2021 | Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females. | 1 |
Citation
Dessen P
CASK (calcium/calmodulin dependent serine protein kinase)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43194/cask-(calcium-calmodulin-dependent-serine-protein-kinase)
