CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2)

2016-10-01  

Identity

HGNC
LOCATION
22q12.3
LOCUSID
ALIAS
MRD10

Other Information

Locus ID:

NCBI: 10369
MIM: 602911
HGNC: 1406
Ensembl: ENSG00000166862

Variants:

dbSNP: 10369
ClinVar: 10369
TCGA: ENSG00000166862
COSMIC: CACNG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166862ENST00000300105Q9Y698

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
MAPK signaling pathwayKEGGhsa04010
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium ChannelsREACTOMER-HSA-112308
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Glutamate Binding, Activation of AMPA Receptors and Synaptic PlasticityREACTOMER-HSA-399721
Trafficking of AMPA receptorsREACTOMER-HSA-399719
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
LGI-ADAM interactionsREACTOMER-HSA-5682910
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892
Phase 2 - plateau phaseREACTOMER-HSA-5576893

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447199Bipolar DisorderDiseaseClinicalAnnotationassociatedPD18408563, 21047205
PA450243lithiumChemicalClinicalAnnotationassociatedPD18408563, 21047205

References

Pubmed IDYearTitleCitations
157581782005Stargazin reduces desensitization and slows deactivation of the AMPA-type glutamate receptors.105
195432812009Roles of stargazin and phosphorylation in the control of AMPA receptor subcellular distribution.54
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.46
206887802010Susceptibility to chronic pain following nerve injury is genetically affected by CACNG2.40
155674742004A novel action of stargazin as an enhancer of AMPA receptor activity.35
198053172009S-nitrosylation of stargazin regulates surface expression of AMPA-glutamate neurotransmitter receptors.31
167937682006Different domains of the AMPA receptor direct stargazin-mediated trafficking and stargazin-mediated modulation of kinetics.28
254225022014Stargazin promotes closure of the AMPA receptor ligand-binding domain.27
145054962003Human neuronal stargazin-like proteins, gamma2, gamma3 and gamma4; an investigation of their specific localization in human brain and their influence on CaV2.1 voltage-dependent calcium channels expressed in Xenopus oocytes.22
185716262008RASD2, MYH9, and CACNG2 genes at chromosome 22q12 associated with the subgroup of schizophrenia with non-deficit in sustained attention and executive function.21

Citation

Dessen P

CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55972/cacng2-(calcium-voltage-gated-channel-auxiliary-subunit-gamma-2)