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Aliases for CACNG2 Gene

Aliases for CACNG2 Gene

  • Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2 2 3
  • Calcium Channel, Voltage-Dependent, Gamma Subunit 2 2 3 5
  • Neuronal Voltage-Gated Calcium Channel Gamma-2 Subunit 3 4
  • Transmembrane AMPAR Regulatory Protein Gamma-2 3 4
  • TARP Gamma-2 3 4
  • Stargazin 3
  • MRD10 3

External Ids for CACNG2 Gene

Previous GeneCards Identifiers for CACNG2 Gene

  • GC22M033574
  • GC22M035203
  • GC22M035284
  • GC22M036959
  • GC22M019928

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 Voltage-Gated Channel Auxiliary Subunit Gamma 2) is a Protein Coding gene. Diseases associated with CACNG2 include mental retardation, autosomal dominant 10 and autosomal dominant non-syndromic intellectual disability. Among its related pathways are Transmission across Chemical Synapses and Cardiac conduction. GO annotations related to this gene include voltage-gated calcium channel activity and ionotropic glutamate receptor binding. An important paralog of this gene is CACNG5.

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

Regulatory Elements for CACNG2 Gene

Genomic Location for CACNG2 Gene

Chromosome:
22
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

Genes around CACNG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Glycosylation at Asn 48
  • Modification sites at PhosphoSitePlus

Other Protein References for CACNG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CACNG2 (Stargazin)

No data available for DME Specific Peptides for CACNG2 Gene

Domains & Families for CACNG2 Gene

Gene Families for CACNG2 Gene

Suggested Antigen Peptide Sequences for CACNG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y698

UniProtKB/Swiss-Prot:

CCG2_HUMAN :
  • Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
Family:
  • Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.
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:0005515 protein binding IEA,IPI 20805473
genes like me logo Genes that share ontologies with CACNG2: view
genes like me logo Genes that share phenotypes with CACNG2: view

Human Phenotype Ontology for CACNG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CACNG2 Gene

MGI Knock Outs for CACNG2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CACNG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005891 voltage-gated calcium channel complex IEA --
GO:0032281 AMPA glutamate receptor complex IEA,ISS --
genes like me logo Genes that share ontologies with CACNG2: view

Pathways & Interactions 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:0050877 neurological system process IEA --
GO:0051899 membrane depolarization IEA,TAS --
GO:0070588 calcium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CACNG2: view

No data available for SIGNOR curated interactions for CACNG2 Gene

Drugs & Compounds for CACNG2 Gene

(6) Drugs for CACNG2 Gene - From: Novoseek, ApexBio, PharmGKB, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target 1839
Lithium Approved Pharma 0
Aniracetam Experimental Pharma Positive, Allosteric regulator Nootropic drug for senile dementia 0
calcium Nutra 0

(2) Additional Compounds for CACNG2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for CACNG2 Gene

Compound Action Cas Number
Aniracetam Nootropic drug for senile dementia 72432-10-1
genes like me logo Genes that share compounds with CACNG2: view

Transcripts for CACNG2 Gene

mRNA/cDNA for CACNG2 Gene

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 (x9.4), Brain - Cerebellar Hemisphere (x9.0), Brain - Frontal Cortex (BA9) (x6.1), Brain - Cortex (x6.0), and Brain - Anterior cingulate cortex (BA24) (x4.6).

Protein differential expression in normal tissues from HIPED for CACNG2 Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CACNG2: view

Protein tissue co-expression partners for CACNG2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CACNG2 Gene

Orthologs for CACNG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACNG2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CACNG2 35
  • 96.9 (n)
  • 100 (a)
CACNG2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CACNG2 35
  • 97.32 (n)
  • 100 (a)
CACNG2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacng2 35
  • 93.91 (n)
  • 98.76 (a)
Cacng2 16
Cacng2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CACNG2 35
  • 99.48 (n)
  • 99.22 (a)
CACNG2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacng2 35
  • 93.29 (n)
  • 98.45 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNG2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNG2 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves CACNG2 35
  • 90.82 (n)
  • 98.14 (a)
CACNG2 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNG2 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacng2 35
  • 82.76 (n)
  • 95.95 (a)
Str.13327 35
zebrafish
(Danio rerio)
Actinopterygii cacng2a 35
  • 79.02 (n)
  • 90.03 (a)
zgc64200 35
cacng2a 36
  • 89 (a)
OneToMany
cacng2b 36
  • 84 (a)
OneToMany
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

(3) 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
VAR_066599 Mental retardation, autosomal dominant 10 (MRD10)
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/AA/AAA)GAGTT 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

Variation tolerance for CACNG2 Gene

Residual Variation Intolerance Score: 43.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 17.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNG2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNG2 Gene

Disorders for CACNG2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CACNG2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 10
  • mrd10
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for CACNG2

Genetic Association Database (GAD)
CACNG2
Human Genome Epidemiology (HuGE) Navigator
CACNG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNG2
genes like me logo Genes that share disorders with CACNG2: view

No data available for Genatlas for CACNG2 Gene

Publications for CACNG2 Gene

  1. Stargazin involvement with bipolar disorder and response to lithium treatment. (PMID: 18408563) Silberberg G. … Navon R. (Pharmacogenet. Genomics 2008) 3 23 48 67
  2. TARPs differentially decorate AMPA receptors to specify neuropharmacology. (PMID: 20219255) Kato A.S. … Bredt D.S. (Trends Neurosci. 2010) 3 23
  3. S-nitrosylation of stargazin regulates surface expression of AMPA-glutamate neurotransmitter receptors. (PMID: 19805317) Selvakumar B. … Snyder S.H. (Proc. Natl. Acad. Sci. U.S.A. 2009) 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. Stargazin reduces desensitization and slows deactivation of the AMPA-type glutamate receptors. (PMID: 15758178) Priel A. … Stern-Bach Y. (J. Neurosci. 2005) 3 23

Products for CACNG2 Gene

Sources for CACNG2 Gene

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