The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit

Nat Genet. 1998 Aug;19(4):340-7. doi: 10.1038/1228.


Stargazer mice have spike-wave seizures characteristic of absence epilepsy, with accompanying defects in the cerebellum and inner ear. We describe here a novel gene, Cacng2, whose expression is disrupted in two stargazer alleles. It encodes a 36-kD protein (stargazin) with structural similarity to the gamma subunit of skeletal muscle voltage-gated calcium (Ca2+) channels. Stargazin is brain-specific and, like other neuronal Ca2+-channel subunits, is enriched in synaptic plasma membranes. In vitro, stargazin increases steady-state inactivation of alpha1 class A Ca2+ channels. The anticipated effect in stargazer mutants, inappropriate Ca2+ entry, may contribute to their more pronounced seizure phenotype compared with other mouse absence models with Ca2+-channel defects. The discovery that the stargazer gene encodes a gamma subunit completes the identification of the major subunit types for neuronal Ca2+ channels, namely alpha1, alpha2delta, beta and gamma, providing a new opportunity to understand how these channels function in the mammalian brain and how they may be targeted in the treatment of neuroexcitability disorders.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Brain Chemistry
  • Calcium Channels / analysis
  • Calcium Channels / genetics*
  • Calcium Channels / physiology
  • Cell Line
  • Cloning, Molecular
  • Cricetinae
  • Epilepsy, Absence / genetics*
  • Gene Expression Regulation
  • Genes / genetics*
  • Mice
  • Mice, Neurologic Mutants
  • Molecular Sequence Data
  • Neurons / chemistry*
  • Neurons / physiology
  • Organ Specificity
  • Patch-Clamp Techniques
  • RNA, Messenger / analysis
  • Restriction Mapping
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Synaptic Membranes / chemistry


  • Cacng2 protein, mouse
  • Calcium Channels
  • RNA, Messenger

Associated data

  • GENBANK/AF077739
  • GENBANK/Y09453