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Protein Coding Gene : Cacng2 calcium channel, voltage-dependent, gamma subunit 2

Primary Identifier  MGI:1316660 Organism  mouse, laboratory
Chromosome  15 NCBI Gene Number  12300
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables voltage-gated calcium channel activity. Involved in neurotransmitter receptor internalization; postsynaptic neurotransmitter receptor diffusion trapping; and protein localization to organelle. Acts upstream of or within several processes, including membrane hyperpolarization; neuromuscular junction development; and transmission of nerve impulse. Located in somatodendritic compartment. Part of AMPA glutamate receptor complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and postsynaptic density membrane. Is expressed in several structures, including brain; genitourinary system; ileum; spinal cord; and trigeminal nerve. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 10. Orthologous to human CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2).
PHENOTYPE: Homozygotes for mutant alleles show growth retardation, movement anomalies including ataxic gait, tremor and head tossing, and neocortical spike-wave seizures. [provided by MGI curators]
  • synonyms:
  • MGI:1925228,
  • expressed sequence AW060990,
  • B930041E13Rik,
  • stargazin,
  • MGI:2146187,
  • waggler,
  • RIKEN cDNA B230105C07 gene,
  • MGI:98432,
  • TARP gamma 2,
  • RIKEN cDNA B930041E13 gene,
  • MGD-MRK-15425,
  • stg,
  • calcium channel, voltage-dependent, gamma subunit 2,
  • wag,
  • AW060990,
  • B230105C07Rik,
  • MGD-MRK-14624,
  • stargazer,
  • Cacng2

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

4 Involved In Mutations

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0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

8 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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