CASK

Peripheral plasma membrane protein CASK is a is_associated_with::protein that in humans is encoded by the CASK is_associated_with::gene. This gene is also known by several other names: CMG 2 (CAMGUK protein 2), calcium/calmodulin-dependent serine protein kinase 3 and membrane-associated guanylate kinase 2.

Gene
This gene is located on the short arm of the is_associated_with::X chromosome (Xp11.4). It is 404,253 bases in length and lies on the Crick (minus) strand. The encoded protein has 926 amino acids with a predicted molecular weight of 105,123 Daltons.

Function
This protein is a multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. It interacts with the transcription factor is_associated_with::TBR1 and binds to several cell-surface proteins including is_associated_with::amyloid precursor protein, is_associated_with::neurexins and is_associated_with::syndecans.

Clinical importance
This gene has been implicated in is_associated_with::X-linked mental retardation, including specifically is_associated_with::mental retardation and microcephaly with pontine and cerebellar hypoplasia.

Interactions
CASK has been shown to interact with:
 * is_associated_with::KCNJ4
 * is_associated_with::APBA1
 * is_associated_with::ATP2B4
 * is_associated_with::CINAP and is_associated_with::TBR1
 * is_associated_with::DLG1
 * is_associated_with::DLG4
 * is_associated_with::F11 receptor
 * is_associated_with::ID1
 * is_associated_with::KCNJ12
 * is_associated_with::LIN7A
 * is_associated_with::Nephrin
 * is_associated_with::Parkin (ligase)
 * is_associated_with::RPH3A
 * is_associated_with::SDC2