Puneet Varma (Editor)

CASK

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Species
  
Entrez
  
8573

Human
  
Ensembl
  
ENSG00000147044

CASK

Aliases
  
CASK, CAGH39, CAMGUK, CMG, FGS4, LIN2, MICPCH, MRXSNA, TNRC8, calcium/calmodulin-dependent serine protein kinase (MAGUK family), calcium/calmodulin dependent serine protein kinase

External IDs
  
MGI: 1309489 HomoloGene: 2736 GeneCards: CASK

Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK 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.

Contents

Gene

This gene is located on the short arm of the 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 TBR1 and binds to several cell-surface proteins including amyloid precursor protein, neurexins and syndecans.

Clinical importance

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

Interactions

CASK has been shown to interact with:

  • KCNJ4
  • APBA1
  • ATP2B4
  • CINAP and TBR1
  • DLG1
  • DLG4
  • F11 receptor
  • ID1
  • KCNJ12
  • LIN7A
  • Nephrin
  • Parkin (ligase)
  • RPH3A
  • SDC2
  • References

    CASK Wikipedia


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