Cask Gene Summary [Mouse]
Enables neurexin family protein binding activity. Involved in regulation of synaptic vesicle exocytosis. Acts upstream of or within several processes, including calcium ion import; positive regulation of calcium ion import; and positive regulation of transcription by RNA polymerase II. Located in several cellular components, including basolateral plasma membrane; cell-cell junction; and cytosol. Is active in Schaffer collateral - CA1 synapse. Colocalizes with basement membrane. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in FG syndrome and syndromic X-linked intellectual disability Najm type. Orthologous to human CASK (calcium/calmodulin dependent serine protein kinase). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cask |
| Official Name | calcium/calmodulin-dependent serine protein kinase (MAGUK family) [Source:MGI Symbol;Acc:MGI:1309489] |
| Ensembl ID | ENSMUSG00000031012 |
| Bio databases IDs | |
| Aliases | calcium/calmodulin-dependent serine protein kinase (MAGUK family) |
| Synonyms | CAGH39, calcium/calmodulin dependent serine protein kinase, CAMGUK, CMG, DXPri1, DXRib1, FGS4, hCASK, LIN-2, LOC100910506, MICPCH, mLin-2, MRXSNA, Pals3, TNRC8 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cask often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- protein serine/threonine kinase
- Protein kinase (unclassified specificity)
- Protein tyrosine and serine/threonine kinase
- protein kinase C binding
- canonical PDZ domain
- calmodulin dependent protein kinase domain
- protein binding
- PDZ domain
- Protein kinase domain
- PDZ-domain binding
- Src Homology 3 domain superfamily
- L27 domain
- kinase
- guanylate kinase
- Serine/Threonine protein kinases, catalytic domain
- Veli/LIN-7 binding domain
- binding protein
- Protein Kinases, catalytic domain
- NK
- guanylate kinase-like domain
- neurexin binding
- CaM kinase-like domain
- Tyrosine kinase, catalytic domain
Pathways
Biological processes and signaling networks where the Cask gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- tumorigenesis
- fg syndrome type 4
- hereditary disorder
- cerebellar hypoplasia or atrophy, epilepsy, and global developmental delay
- neurodevelopmental disorder
- mental retardation and microcephaly with pontine and cerebellar hypoplasia
- developmental disorder
- syndromic X-linked mental retardation
- mental retardation
- X-linked mental retardation with nystagmus
role in cell
- proliferation
- cell death
- survival
- adhesion
- morphology
- morphogenesis
- neural network activity
- neurite outgrowth in
- synaptic transmission in
- exocytosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- synaptic plasma membrane fractions
- nuclear fraction
- soluble fraction
- postsynaptic density (PSD) fractions
- membrane fraction
- detergent resistant lipid raft fraction
- glutaminergic synapse
- organelle
- Cytoplasm
- presynaptic regions
- cilia
- perinuclear region
- postsynaptic region
- cellular membrane
- actin cytoskeleton
- Nucleus
- vesicles
- intercellular junctions
- cell-cell contacts
- cytosol
- stereocilia
- basolateral cell surfaces
- presynaptic membrane
- synaptic membrane
- basolateral membrane
- basal membrane
- sinusoidal membrane
- lateral plasma membrane
- nucleoli
- nuclear matrix
- nuclear lamina
- synapse
- pedicels
- stereocilia bundles
- membrane rafts
- cellular protrusions
- membrane processes
- perikaryon
- axons
- dendrites
- axon terminals
- basement membrane
- apical processes
- detergent-soluble fraction
- synaptosomal fractions
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cask gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of wound healing
- calcium ion import
- regulation of neurotransmitter secretion
- negative regulation of cellular response to growth factor stimulus
- GDP metabolic process
- protein localization
- cell adhesion
- GMP metabolic process
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of calcium ion import
- negative regulation of keratinocyte proliferation
- negative regulation of cell-matrix adhesion
- regulation of synaptic vesicle exocytosis
- establishment of localization in cell
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- nucleolus
- nuclear lamina
- plasma membrane
- basement membrane
- cell-cell junction
- focal adhesion
- cytoplasm
- actin cytoskeleton
- cytosol
- vesicle
- nuclear matrix
- cilium membrane
- basolateral plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- calmodulin binding
- protein binding
- neurexin family protein binding
- guanylate kinase activity
- protein serine/threonine kinase activity
- receptor binding