Aliases for CASK Gene
External Ids for CASK Gene
Previous HGNC Symbols for CASK Gene
Previous GeneCards Identifiers for CASK Gene
This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
GeneCards Summary for CASK Gene
CASK (Calcium/Calmodulin Dependent Serine Protein Kinase) is a Protein Coding gene. Diseases associated with CASK include Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia and Fg Syndrome 4. Among its related pathways are MET promotes cell motility and Protein-protein interactions at synapses. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MPP1.
UniProtKB/Swiss-Prot Summary for CASK Gene
Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. Component of the LIN-10-LIN-2-LIN-7 complex, which associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity).