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Aliases for CACNG2 Gene

Aliases for CACNG2 Gene

  • Calcium Channel, Voltage-Dependent, Gamma Subunit 2 2 3
  • Neuronal Voltage-Gated Calcium Channel Gamma-2 Subunit 3 4
  • Transmembrane AMPAR Regulatory Protein Gamma-2 3 4
  • TARP Gamma-2 3 4
  • MRD10 3 6
  • Voltage-Dependent Calcium Channel Gamma-2 Subunit 3
  • Stargazin 3

External Ids for CACNG2 Gene

Summaries for CACNG2 Gene

Entrez Gene Summary for CACNG2 Gene

  • The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]

GeneCards Summary for CACNG2 Gene

CACNG2 (Calcium Channel, Voltage-Dependent, Gamma Subunit 2) is a Protein Coding gene. Diseases associated with CACNG2 include mental retardation, autosomal dominant 10 and schizophrenia. Among its related pathways are MAPK signaling pathway and ERK Signaling. GO annotations related to this gene include voltage-gated calcium channel activity and ionotropic glutamate receptor binding. An important paralog of this gene is CACNG3.

UniProtKB/Swiss-Prot for CACNG2 Gene

  • Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.

Gene Wiki entry for CACNG2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNG2 Gene

Genomics for CACNG2 Gene

Genomic Location for CACNG2 Gene

Start:
36,560,869 bp from pter
End:
36,703,558 bp from pter
Size:
142,690 bases
Orientation:
Minus strand

Genomic View for CACNG2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CACNG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNG2 Gene

Regulatory Elements for CACNG2 Gene

Proteins for CACNG2 Gene

  • Protein details for CACNG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y698-CCG2_HUMAN
    Recommended name:
    Voltage-dependent calcium channel gamma-2 subunit
    Protein Accession:
    Q9Y698
    Secondary Accessions:
    • Q2M1M1
    • Q5TGT3
    • Q9UGZ7

    Protein attributes for CACNG2 Gene

    Size:
    323 amino acids
    Molecular mass:
    35966 Da
    Quaternary structure:
    • The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Interacts with the PDZ domains of DLG4/PSD-95 and DLG1/SAP97. May interact with GOPC (By similarity). Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8 (By similarity). Interacts with GRIA1.

neXtProt entry for CACNG2 Gene

Proteomics data for CACNG2 Gene at MOPED

Post-translational modifications for CACNG2 Gene

  • Phosphorylation of Thr-321 impairs interaction with DLG1 and DLG4
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn48

Other Protein References for CACNG2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CACNG2 Gene

Domains for CACNG2 Gene

Gene Families for CACNG2 Gene

HGNC:
  • CACN :Calcium channel subunits

UniProtKB/Swiss-Prot:

CCG2_HUMAN
Family:
  • Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.:
    • Q9Y698
genes like me logo Genes that share domains with CACNG2: view

Function for CACNG2 Gene

Molecular function for CACNG2 Gene

GENATLAS Biochemistry: calcium voltage-gated channel (VDCC),L type,dihydropyridine (DPH) sensitive,gamma regulatory subunit 2,neuronal
UniProtKB/Swiss-Prot Function: Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.

Gene Ontology (GO) - Molecular Function for CACNG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity IEA --
GO:0005515 protein binding IPI 20805473
GO:0035255 ionotropic glutamate receptor binding IEA --
genes like me logo Genes that share ontologies with CACNG2: view
genes like me logo Genes that share phenotypes with CACNG2: view

Animal Models for CACNG2 Gene

MGI Knock Outs for CACNG2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CACNG2 Gene

Localization for CACNG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNG2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNG2 Gene COMPARTMENTS Subcellular localization image for CACNG2 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for CACNG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005891 voltage-gated calcium channel complex IEA --
GO:0016021 integral component of membrane --
GO:0030666 endocytic vesicle membrane TAS --
GO:0032281 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex ISS --
genes like me logo Genes that share ontologies with CACNG2: view

Pathways for CACNG2 Gene

genes like me logo Genes that share pathways with CACNG2: view

Gene Ontology (GO) - Biological Process for CACNG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 10221464
GO:0007268 synaptic transmission TAS --
GO:0007528 neuromuscular junction development IEA --
GO:0019226 transmission of nerve impulse IEA --
GO:0042391 regulation of membrane potential --
genes like me logo Genes that share ontologies with CACNG2: view

Compounds for CACNG2 Gene

(1) HMDB Compounds for CACNG2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(5) Novoseek inferred chemical compound relationships for CACNG2 Gene

Compound -log(P) Hits PubMed IDs
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid 71.1 2
glutamate 63.4 14
kainate 47.8 3
nmda 22.3 3
calcium 18.2 7

(1) PharmGKB related drug/compound annotations for CACNG2 Gene

Drug/compound Annotation
lithium CA
genes like me logo Genes that share compounds with CACNG2: view

Transcripts for CACNG2 Gene

mRNA/cDNA for CACNG2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CACNG2 Gene

Calcium channel, voltage-dependent, gamma subunit 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CACNG2 Gene

No ASD Table

Relevant External Links for CACNG2 Gene

GeneLoc Exon Structure for
CACNG2
ECgene alternative splicing isoforms for
CACNG2

Expression for CACNG2 Gene

mRNA expression in normal human tissues for CACNG2 Gene

mRNA differential expression in normal tissues according to GTEx for CACNG2 Gene

This gene is overexpressed in Brain - Cerebellum (9.4), Brain - Cerebellar Hemisphere (9.0), Brain - Frontal Cortex (BA9) (6.1), Brain - Cortex (6.0), and Brain - Anterior cingulate cortex (BA24) (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CACNG2 Gene

SOURCE GeneReport for Unigene cluster for CACNG2 Gene Hs.146766

mRNA Expression by UniProt/SwissProt for CACNG2 Gene

Q9Y698-CCG2_HUMAN
Tissue specificity: Brain
genes like me logo Genes that share expressions with CACNG2: view

Orthologs for CACNG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACNG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNG2 36
  • 99.48 (n)
  • 99.22 (a)
CACNG2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACNG2 36
  • 96.9 (n)
  • 100 (a)
CACNG2 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNG2 36
  • 97.32 (n)
  • 100 (a)
CACNG2 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacng2 36
  • 93.91 (n)
  • 98.76 (a)
Cacng2 16
Cacng2 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CACNG2 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNG2 37
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacng2 36
  • 93.29 (n)
  • 98.45 (a)
chicken
(Gallus gallus)
Aves CACNG2 36
  • 90.82 (n)
  • 98.14 (a)
CACNG2 37
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNG2 37
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacng2 36
  • 82.76 (n)
  • 95.95 (a)
Str.13327 36
zebrafish
(Danio rerio)
Actinopterygii cacng2a 36
  • 79.02 (n)
  • 90.03 (a)
cacng2a 37
  • 89 (a)
OneToMany
cacng2b 37
  • 84 (a)
OneToMany
zgc64200 36
Species with no ortholog for CACNG2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CACNG2 Gene

ENSEMBL:
Gene Tree for CACNG2 (if available)
TreeFam:
Gene Tree for CACNG2 (if available)

Paralogs for CACNG2 Gene

Paralogs for CACNG2 Gene

Selected SIMAP similar genes for CACNG2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CACNG2: view

Variants for CACNG2 Gene

Sequence variations from dbSNP and Humsavar for CACNG2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs131825 -- 36,650,714(-) agtga(C/G)acccc intron-variant
rs131826 -- 36,645,358(-) gggtt(C/T)cactg intron-variant
rs131827 -- 36,632,470(-) GAGAG(-/AG)GAGAG intron-variant
rs131828 -- 36,631,737(-) AAAAA(-/A)GAGTT intron-variant
rs131829 -- 36,631,420(-) ACTGC(C/T)GACAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNG2 Gene

Variant ID Type Subtype PubMed ID
nsv520497 CNV Gain 19592680
dgv1402e1 CNV Complex 17122850
nsv9900 CNV Gain 18304495
nsv9901 CNV Gain 18304495
esv2724196 CNV Deletion 23290073
esv989250 CNV Deletion 20482838
esv2724197 CNV Deletion 23290073
esv2562734 CNV Insertion 19546169
nsv915008 CNV Loss 21882294

Relevant External Links for CACNG2 Gene

HapMap Linkage Disequilibrium report
CACNG2
Human Gene Mutation Database (HGMD)
CACNG2

Disorders for CACNG2 Gene

(1) OMIM Diseases for CACNG2 Gene (602911)

UniProtKB/Swiss-Prot

CCG2_HUMAN
  • Mental retardation, autosomal dominant 10 (MRD10) [MIM:614256]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21376300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for CACNG2 Gene

Disease -log(P) Hits PubMed IDs
epilepsy 25.4 1
schizophrenia 16.1 4

Relevant External Links for CACNG2

Genetic Association Database (GAD)
CACNG2
Human Genome Epidemiology (HuGE) Navigator
CACNG2
genes like me logo Genes that share disorders with CACNG2: view

Publications for CACNG2 Gene

  1. Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications. (PMID: 10221464) Black J.L. III … Lennon V.A. (Mayo Clin. Proc. 1999) 3 4 23
  2. Stargazin involvement with bipolar disorder and response to lithium treatment. (PMID: 18408563) Silberberg G. … Navon R. (Pharmacogenet. Genomics 2008) 3 23 49
  3. Dynamic interaction of stargazin-like TARPs with cycling AMPA receptors at synapses. (PMID: 15001777) Tomita S. … Bredt D.S. (Science 2004) 3 23
  4. Stargazin interaction with alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors is critically dependent on the amino acid at the narrow constriction of the ion channel. (PMID: 17483093) KAPrber C. … Hollmann M. (J. Biol. Chem. 2007) 3 23
  5. Direct interactions between PSD-95 and stargazin control synaptic AMPA receptor number. (PMID: 12359873) Schnell E. … Nicoll R.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 23

Products for CACNG2 Gene

Sources for CACNG2 Gene

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