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CACNG2 Gene

protein-coding   GIFtS: 59
GCID: GC22M036959

Calcium Channel, Voltage-Dependent, Gamma Subunit 2

  See CACNG2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calcium Channel, Voltage-Dependent, Gamma Subunit 21 2     MRD102 5
Neuronal Voltage-Gated Calcium Channel Gamma-2 Subunit2 3     stargazin2
Transmembrane AMPAR Regulatory Protein Gamma-22 3     Voltage-Dependent Calcium Channel Gamma-2 Subunit2
TARP Gamma-22 3     

External Ids:    HGNC: 14061   Entrez Gene: 103692   Ensembl: ENSG000001668627   OMIM: 6029115   UniProtKB: Q9Y6983   

Export aliases for CACNG2 gene to outside databases

Previous GC identifers: GC22M033574 GC22M035203 GC22M035284 GC22M019928


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include voltage-gated calcium channel activity and ionotropic glutamate receptor binding. An important paralog of this gene is CACNG4.

UniProtKB/Swiss-Prot: CCG2_HUMAN, Q9Y698
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 Wiki entry for CACNG2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the CACNG2 gene promoter:
         Bach1   AML1a   AP-1   ATF-2   RelA   Nkx2-5   AREB6   POU2F1   POU2F1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNG2 promoter sequence
   Search Chromatin IP Primers for CACNG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNG2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q13.1

CACNG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNG2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M036959:  view genomic region     (about GC identifiers)

Start:
36,956,916 bp from pter      End:
37,099,603 bp from pter
Size:
142,688 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CCG2_HUMAN, Q9Y698 (See protein sequence)
Recommended Name: Voltage-dependent calcium channel gamma-2 subunit  
Size: 323 amino acids; 35966 Da
Subunit: 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
Secondary accessions: Q2M1M1 Q5TGT3 Q9UGZ7

Explore the universe of human proteins at neXtProt for CACNG2: NX_Q9Y698

Explore proteomics data for CACNG2 at MOPED

Post-translational modifications: 

  • Phosphorylation of Thr-321 impairs interaction with DLG1 and DLG41
  • Glycosylation2 at Asn48
  • Modification sites at PhosphoSitePlus

  • See CACNG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006069.1  
    ENSEMBL proteins: 
     ENSP00000300105  
    Reactome Protein details: Q9Y698

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CACN: Calcium channel subunits

    3 InterPro protein domains:
     IPR005422 VDCC_g2su
     IPR008368 VDCC_gsu
     IPR004031 PMP22/EMP/MP20/Claudin

    Graphical View of Domain Structure for InterPro Entry Q9Y698

    ProtoNet protein and cluster: Q9Y698

    2 Blocks protein domains:
    IPB005422 Voltage-dependent calcium channel gamma-2 subunit signature
    IPB006187 Claudin family signature


    UniProtKB/Swiss-Prot: CCG2_HUMAN, Q9Y698
    Similarity: Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily


    Find genes that share domains with CACNG2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CCG2_HUMAN, Q9Y698
    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

         Genatlas biochemistry entry for CACNG2:
    calcium voltage-gated channel (VDCC),L type,dihydropyridine (DPH) sensitive,gamma regulatory subunit 2,neuronal

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005245voltage-gated calcium channel activity IEA--
    GO:0005515protein binding IPI--
    GO:0035255ionotropic glutamate receptor binding IEA--
         
    Find genes that share ontologies with CACNG2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CACNG2:
     Increased cell number in G1, a 

         7 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Cacng2):
     behavior/neurological  cellular  growth/size/body  hearing/vestibular/ear  mortality/aging 
     nervous system  reproductive system 

    Find genes that share phenotypes with CACNG2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cacng2tm1Mwa for CACNG2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CACNG2
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    SwitchGear 3'UTR luciferase reporter plasmidCACNG2 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CCG2_HUMAN, Q9Y698: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005891voltage-gated calcium channel complex IEA--
    GO:0016021integral component of membrane ----
    GO:0030666endocytic vesicle membrane TAS--
    GO:0032281alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex ISS--

    Find genes that share ontologies with CACNG2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CACNG2 About   (see all 24)  
    See pathways by source

    SuperPathContained pathways About
    1DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression0.44
    Caspase Cascade0.36
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.31
    nNOS Signaling in Skeletal Muscle0.37
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels0.00
    2Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    3TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    Fc-EpsilonRI Pathway0.49
    TCR Signaling0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    5Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72


    Find genes that share SuperPaths with CACNG2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CACNG2 (see all 36)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 Cell Signaling Technology (CST) Pathway for CACNG2
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for CACNG2
        Transcription CREB pathway

    1 BioSystems Pathway for CACNG2
        Arrhythmogenic right ventricular cardiomyopathy

    2 Reactome Pathways for CACNG2
        Trafficking of AMPA receptors
    Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels


    Selected Kegg Pathways  (Kegg details for CACNG2) (see all 7):
        MAPK signaling pathway
    Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Oxytocin signaling pathway
    Hypertrophic cardiomyopathy (HCM)

        Pathway & Disease-focused RT2 Profiler PCR Array including CACNG2: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CACNG2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CACNG2 (Q9Y6983 ENSP000003001054) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRIN1Q055863, ENSP000003606164I2D: score=2 STRING: ENSP00000360616
    CAMK2AQ9UQM73, ENSP000003814124I2D: score=1 STRING: ENSP00000381412
    GRIA2P422623, ENSP000002644264I2D: score=1 STRING: ENSP00000264426
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    GRIA1P422613, ENSP000002859004I2D: score=2 STRING: ENSP00000285900
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    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS10221464
    GO:0007268synaptic transmission TAS--
    GO:0007528neuromuscular junction development IEA--
    GO:0019226transmission of nerve impulse IEA--
    GO:0042391regulation of membrane potential ----

    Find genes that share ontologies with CACNG2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CACNG2 (CCG2)

    1 HMDB Compound for CACNG2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    5 Novoseek inferred chemical compound relationships for CACNG2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid 71.1 2 16791853 (1), 12771129 (1)
    glutamate 63.4 15 16093395 (3), 15758178 (3), 16919685 (2), 19942860 (1) (see all 9)
    kainate 47.8 3 16093395 (3)
    nmda 22.3 4 15473971 (1), 12552131 (1), 14529713 (1)
    calcium 18.2 9 11443534 (1), 11313431 (1), 14505496 (1), 18408563 (1) (see all 7)

    1 PharmGKB related drug/compound annotation for CACNG2 gene    About this table
    Drug/compound PharmGKB Annotation
    lithiumCA  



    Find genes that share compounds with CACNG2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CACNG2 gene: 
    NM_006078.3  

    Unigene Cluster for CACNG2:

    Calcium channel, voltage-dependent, gamma subunit 2
    Hs.146766  [show with all ESTs]
    Unigene Representative Sequence: NM_006078
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300105(uc003aps.2) ENST00000480002
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    Additional mRNA sequence: 

    AF096322.1 AK123431.1 BC069612.1 BC112297.1 BC112299.1 CR456414.1 

    4 DOTS entries:

    DT.75185026  DT.100022519  DT.120630519  DT.100741684 

    23 AceView cDNA sequences:

    CR456414 AF096322 BU584768 BF516270 BM663981 BC069612 NM_006078 AI912567 
    BF205359 BU584741 BU584313 BI919073 BU584413 BU584727 AI680925 BE670632 
    BU584412 AI693801 AI911218 BE222518 BF363869 AW273230 AF064850 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CACNG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CACNG2 Expression
    About this image

    CACNG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.146766

    UniProtKB/Swiss-Prot: CCG2_HUMAN, Q9Y698
    Tissue specificity: Brain

        Pathway & Disease-focused RT2 Profiler PCR Array including CACNG2: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CACNG2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacng21 , 5 calcium channel, voltage-dependent, gamma subunit 21, 5 93.91(n)1
    98.76(a)1
      15 (36.92 cM)5
    123001  NM_007583.21  NP_031609.11 
     779917485 
    chicken
    (Gallus gallus)
    Aves CACNG21 calcium channel, voltage-dependent, gamma subunit 2 90.82(n)
    98.14(a)
      427909  XM_425482.3  XP_425482.2 
    lizard
    (Anolis carolinensis)
    Reptilia CACNG26
    calcium channel, voltage-dependent, gamma subunit ...
    95(a)
    1 ↔ 1
    5(22277684-22446240)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.133272 Transcribed sequence with moderate similarity to protein more 82.17(n)    BX729615.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc642002 hypothetical protein MGC64200 81.15(n)   393614  BC057439.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CACNG2 gene
    CACNG42  CACNG72  CACNG52  CACNG82  CACNG32  
    3 SIMAP similar genes for CACNG2 using alignment to 1 protein entry:     CCG2_HUMAN:
    CACNG3    CACNG4    CACNG8

    Find genes that share paralogs with CACNG2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CACNG2 (see all 3327)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0665994
    Mental retardation, autosomal dominant 10 (MRD10)4--see VAR_0665992 V L mis40--------
    rs1382547651,2
    --20877927(+) AAGGAA/CGTCAT 1 -- ds50010--------
    rs1430406921,2
    --20877943(+) CTGTCC/TTCAAA 1 -- ds50010--------
    rs792717861,2
    F--20878003(+) TTGGAG/ATGTGA 1 -- ds50011Minor allele frequency- A:0.10WA 118
    rs1461673141,2
    C--20878119(+) GGAGGC/TGTGCA 1 -- ds50010--------
    rs121586051,2
    C,F--20878134(+) TCCCTA/TAAGGA 1 -- ds50013Minor allele frequency- T:0.05NA WA 240
    rs754158891,2
    F--20878160(+) TCATGA/GTCTAG 1 -- ds50011Minor allele frequency- G:0.05WA 118
    rs121586421,2
    H--20878196(+) AGCATC/TTAAAC 1 -- ds50014Minor allele frequency- T:0.00NS EA 380
    rs1128855411,2
    C,F--20878254(+) GCCAGG/CAGTTG 1 -- ds50011Minor allele frequency- C:0.50NA 2
    rs351120671,2
    C--20878303(+) CTATAT/-AAAAA 1 -- ut311Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for CACNG2 (36956916 - 37099603 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CACNG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724196CNV Deletion23290073
    esv2724197CNV Deletion23290073
    esv989250CNV Deletion20482838
    esv2562734CNV Insertion19546169
    nsv915008CNV Loss21882294
    nsv9901CNV Gain18304495
    nsv520497CNV Gain19592680
    nsv9900CNV Gain18304495
    dgv1402e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): CACNG2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CACNG2
    DNA2.0 Custom Variant and Variant Library Synthesis for CACNG2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602911   
    OMIM disorders: 614256  
    UniProtKB/Swiss-Prot: CCG2_HUMAN, Q9Y698
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 2 diseases for CACNG2:    
    About MalaCards
    mental retardation, autosomal dominant 10    schizophrenia


    Find genes that share disorders with CACNG2           About GenesLikeMe

    2 Novoseek inferred disease relationships for CACNG2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy 25.4 1 18565486 (1)
    schizophrenia 16.1 9 18408563 (3), 16983646 (1)

    Genetic Association Database (GAD): CACNG2
    Human Genome Epidemiology (HuGE) Navigator: CACNG2 (5 documents)

    Export disorders for CACNG2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CACNG2 gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with CACNG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Stargazin involvement with bipolar disorder and response to lithium treatment. (PubMed id 18408563)1, 4, 9 Silberberg G....Navon R. (Pharmacogenet. Genomics 2008)
    2. Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications. (PubMed id 10221464)1, 2, 9 Black J.L. III and Lennon V.A. (Mayo Clin. Proc. 1999)
    3. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (Eur. J. Hum. Genet. 2009)
    4. RASD2, MYH9, and CACNG2 genes at chromosome 22q12 associated with the subgroup of schizophrenia with non-deficit in sustained attention and executive function. (PubMed id 18571626)1, 4 Liu Y.L....Hwu H.G. (Biol. Psychiatry 2008)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    8. S-nitrosylation of stargazin regulates surface expression of AMPA-glutamate neurotransmitter receptors. (PubMed id 19805317)1, 9 Selvakumar B....Snyder S.H. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    9. Stargazin reduces desensitization and slows deactivation of the AMPA-type glutamate receptors. (PubMed id 15758178)1, 9 Priel A....Stern-Bach Y. (J. Neurosci. 2005)
    10. 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. (PubMed id 17483093)1, 9 KAPrber C....Hollmann M. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10369 HGNC: 1406 AceView: CACNG2 Ensembl:ENSG00000166862 euGenes: HUgn10369
    ECgene: CACNG2 Kegg: 10369 H-InvDB: CACNG2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CACNG2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CACNG2 gene:
    Search GeneIP for patents involving CACNG2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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