CASK (calcium/calmodulin dependent serine protein kinase)

2006-10-01  

Identity

HGNC
CASK
LOCATION
Xp11.4
LOCUSID
8573
ALIAS
CAGH39,CAMGUK,CMG,FGS4,LIN2,MICPCH,MRXSNA,TNRC8,hCASK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8573
MIM: 300172
HGNC: 1497
Ensembl: ENSG00000147044

Variants:

dbSNP: 8573
ClinVar: 8573
TCGA: ENSG00000147044
COSMIC: CASK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147044ENST00000378154O14936
ENSG00000147044ENST00000378158A0A2U3TZM1
ENSG00000147044ENST00000378163O14936
ENSG00000147044ENST00000378166A0A2U3TZM4
ENSG00000147044ENST00000378168Q5JS79
ENSG00000147044ENST00000378179Q5JS72
ENSG00000147044ENST00000421587O14936
ENSG00000147044ENST00000442742A0A2U3TZN6
ENSG00000147044ENST00000486402A0A2R8Y6D8
ENSG00000147044ENST00000642361A0A2R8YGH2
ENSG00000147044ENST00000643043A0A2R8Y3B3
ENSG00000147044ENST00000643733A0A2R8Y7X6
ENSG00000147044ENST00000643831A0A2R8YEJ7
ENSG00000147044ENST00000644219A0A2R8YE77
ENSG00000147044ENST00000644347O14936
ENSG00000147044ENST00000644770A0A2R8Y4K4
ENSG00000147044ENST00000645566O14936
ENSG00000147044ENST00000645986A0A2R8YEK3
ENSG00000147044ENST00000646087A0A2R8Y6F8
ENSG00000147044ENST00000646120A0A2R8YFN5
ENSG00000147044ENST00000647118A0A2R8Y472

Expression (GTEx)

0
5
10
15
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

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676
Cell-Cell communicationREACTOMER-HSA-1500931
Nephrin interactionsREACTOMER-HSA-373753
Extracellular matrix organizationREACTOMER-HSA-1474244
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171
Syndecan interactionsREACTOMER-HSA-3000170
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil

References

Pubmed IDYearTitleCitations
386706342024Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.0
386706342024Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.0
367541602023Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating α-synuclein in Parkinson's disease.1
376287072023Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.2
367541602023Calcium/calmodulin-dependent serine protein kinase exacerbates mitochondrial calcium uniporter-related mitochondrial calcium overload by phosphorylating α-synuclein in Parkinson's disease.1
376287072023Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.2
352815992022Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.3
356702952022Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.5
361688672022Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.2
352815992022Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.3
356702952022Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.5
361688672022Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.2
330904942021Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.12
335482142021CASK regulates Notch pathway and functions as a tumor promoter in pancreatic cancer.7
336294172021Microcephaly, 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/case-report-explorer/favicon/apple-touch-icon.png